메뉴 건너뛰기




Volumn 28, Issue 9, 2013, Pages 1184-1199

"Atypical" atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide

Author keywords

Atypical parkinsonism; Corticobasal degeneration; Genetic; Multiple system atrophy; Progressive supranuclear palsy; PSP look alikes

Indexed keywords

ADENOSINE TRIPHOSPHATE; ALGLUCERASE; ATAXIN 3; ATP13A PROTEIN; CHENODEOXYCHOLIC ACID; CHITOTRIOSIDASE; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTEROL; DNA DIRECTED DNA POLYMERASE GAMMA; DOPAMINE TRANSPORTER; DYNACTIN; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN 1; FUSED IN SARCOMA PROTEIN; GLUCOSYLCERAMIDASE; GLYCOLIPID; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMIGLUCERASE; IOFLUPANE I 123; LEUCINE RICH REPEAT KINASE 2; LEVODOPA; MIGLUSTAT; MITOCHONDRIAL DNA; PRESENILIN; PRESENILIN 1; PRION PROTEIN; PROGRANULIN; TAR DNA BINDING PROTEIN; TAU PROTEIN; UNCLASSIFIED DRUG;

EID: 84883559967     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25509     Document Type: Article
Times cited : (98)

References (210)
  • 1
    • 0038147327 scopus 로고    scopus 로고
    • Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders
    • Litvan I, Bhatia KP, Burn DJ, et al. Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord 2003;18:467-486.
    • (2003) Mov Disord , vol.18 , pp. 467-486
    • Litvan, I.1    Bhatia, K.P.2    Burn, D.J.3
  • 2
    • 0029967196 scopus 로고    scopus 로고
    • Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study
    • Litvan I, Mangone CA, McKee A, et al. Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. J Neurol Neurosurg Psychiatry 1996;60:615-620.
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 615-620
    • Litvan, I.1    Mangone, C.A.2    McKee, A.3
  • 3
    • 52449086856 scopus 로고    scopus 로고
    • Second consensus statement on the diagnosis of multiple system atrophy
    • Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-676.
    • (2008) Neurology , vol.71 , pp. 670-676
    • Gilman, S.1    Wenning, G.K.2    Low, P.A.3
  • 4
    • 77954362718 scopus 로고    scopus 로고
    • Does corticobasal degeneration exist? A clinicopathological re-evaluation
    • Ling H, O'Sullivan SS, Holton JL, et al. Does corticobasal degeneration exist? A clinicopathological re-evaluation. Brain 2010;133(Pt 7):2045-2057.
    • (2010) Brain , vol.133 , Issue.PART 7 , pp. 2045-2057
    • Ling, H.1    O'Sullivan, S.S.2    Holton, J.L.3
  • 6
    • 60249088182 scopus 로고    scopus 로고
    • Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges
    • Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol 2009;8:270-279.
    • (2009) Lancet Neurol , vol.8 , pp. 270-279
    • Williams, D.R.1    Lees, A.J.2
  • 7
    • 20444436764 scopus 로고    scopus 로고
    • Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
    • Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 2005;128(Pt 6):1247-1258.
    • (2005) Brain , vol.128 , Issue.PART 6 , pp. 1247-1258
    • Williams, D.R.1    de Silva, R.2    Paviour, D.C.3
  • 9
    • 0032827163 scopus 로고    scopus 로고
    • Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study
    • Wenning GK, Scherfler C, Granata R, et al. Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study. J Neurol Neurosurg Psychiatry 1999;67:620-623.
    • (1999) J Neurol Neurosurg Psychiatry , vol.67 , pp. 620-623
    • Wenning, G.K.1    Scherfler, C.2    Granata, R.3
  • 11
    • 84876332892 scopus 로고    scopus 로고
    • The natural history of multiple system atrophy: a prospective European cohort study
    • Wenning GK, Geser F, Krismer F, et al. The natural history of multiple system atrophy: a prospective European cohort study. Lancet Neurol 2013;12:264-274.
    • (2013) Lancet Neurol , vol.12 , pp. 264-274
    • Wenning, G.K.1    Geser, F.2    Krismer, F.3
  • 12
  • 13
    • 84874019770 scopus 로고    scopus 로고
    • Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
    • Lindquist S, Duno M, Batbayli M, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013;83:279-283.
    • (2013) Clin Genet , vol.83 , pp. 279-283
    • Lindquist, S.1    Duno, M.2    Batbayli, M.3
  • 14
    • 84863999288 scopus 로고    scopus 로고
    • C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
    • O'Dowd S, Curtin D, Waite AJ, et al. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Mov Disord 2012;27:1072-1074.
    • (2012) Mov Disord , vol.27 , pp. 1072-1074
    • O'Dowd, S.1    Curtin, D.2    Waite, A.J.3
  • 15
    • 0028298816 scopus 로고
    • Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
    • Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994;89:347-352.
    • (1994) Acta Neurol Scand , vol.89 , pp. 347-352
    • Najim al-Din, A.S.1    Wriekat, A.2    Mubaidin, A.3    Dasouki, M.4    Hiari, M.5
  • 16
    • 77951841861 scopus 로고    scopus 로고
    • Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure
    • Newsway V, Fish M, Rohrer JD, et al. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord 2010;25:767-770.
    • (2010) Mov Disord , vol.25 , pp. 767-770
    • Newsway, V.1    Fish, M.2    Rohrer, J.D.3
  • 17
    • 77952973586 scopus 로고    scopus 로고
    • Rational therapeutic approaches to progressive supranuclear palsy
    • Stamelou M, de Silva R, Arias-Carrion O, et al. Rational therapeutic approaches to progressive supranuclear palsy. Brain 2010;133(Pt 6):1578-1590.
    • (2010) Brain , vol.133 , Issue.PART 6 , pp. 1578-1590
    • Stamelou, M.1    de Silva, R.2    Arias-Carrion, O.3
  • 18
    • 77953512439 scopus 로고    scopus 로고
    • Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
    • Paisan-Ruiz C, Guevara R, Federoff M, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 2010;25:1791-1800.
    • (2010) Mov Disord , vol.25 , pp. 1791-1800
    • Paisan-Ruiz, C.1    Guevara, R.2    Federoff, M.3
  • 19
    • 84855962257 scopus 로고    scopus 로고
    • Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations
    • Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012;27:42-53.
    • (2012) Mov Disord , vol.27 , pp. 42-53
    • Schneider, S.A.1    Hardy, J.2    Bhatia, K.P.3
  • 20
    • 70450194705 scopus 로고    scopus 로고
    • Hereditary parkinsonism: Parkinson disease look-alikes-an algorithm for clinicians to "PARK" genes and beyond
    • Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes-an algorithm for clinicians to "PARK" genes and beyond. Mov Disord 2009;24:2042-2058.
    • (2009) Mov Disord , vol.24 , pp. 2042-2058
    • Klein, C.1    Schneider, S.A.2    Lang, A.E.3
  • 21
    • 67651156095 scopus 로고    scopus 로고
    • Complicated recessive dystonia parkinsonism syndromes
    • Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009;24:490-499.
    • (2009) Mov Disord , vol.24 , pp. 490-499
    • Schneider, S.A.1    Bhatia, K.P.2    Hardy, J.3
  • 24
    • 33645729013 scopus 로고    scopus 로고
    • Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP
    • Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology 2006;66:41-48.
    • (2006) Neurology , vol.66 , pp. 41-48
    • Josephs, K.A.1    Petersen, R.C.2    Knopman, D.S.3
  • 26
    • 0037465718 scopus 로고    scopus 로고
    • Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study
    • Nath U, Ben-Shlomo Y, Thomson RG, Lees AJ, Burn DJ. Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. Neurology 2003;60:910-916.
    • (2003) Neurology , vol.60 , pp. 910-916
    • Nath, U.1    Ben-Shlomo, Y.2    Thomson, R.G.3    Lees, A.J.4    Burn, D.J.5
  • 27
    • 24944566320 scopus 로고    scopus 로고
    • Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors
    • Papapetropoulos S, Gonzalez J, Mash DC. Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. Eur Neurol 2005;54:1-9.
    • (2005) Eur Neurol , vol.54 , pp. 1-9
    • Papapetropoulos, S.1    Gonzalez, J.2    Mash, D.C.3
  • 28
    • 80051535251 scopus 로고    scopus 로고
    • Clinicopathological correlations in corticobasal degeneration
    • Lee SE, Rabinovici GD, Mayo MC, et al. Clinicopathological correlations in corticobasal degeneration. Ann Neurol 2011;70:327-340.
    • (2011) Ann Neurol , vol.70 , pp. 327-340
    • Lee, S.E.1    Rabinovici, G.D.2    Mayo, M.C.3
  • 29
    • 84861717261 scopus 로고    scopus 로고
    • Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases
    • Stamelou M, Alonso-Canovas A, Bhatia KP. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord 2012;27:696-702.
    • (2012) Mov Disord , vol.27 , pp. 696-702
    • Stamelou, M.1    Alonso-Canovas, A.2    Bhatia, K.P.3
  • 30
    • 61849183707 scopus 로고    scopus 로고
    • How do patients with parkinsonism present? A clinicopathological study
    • Williams DR, Lees AJ. How do patients with parkinsonism present? A clinicopathological study. Intern Med J 2009;39:7-12.
    • (2009) Intern Med J , vol.39 , pp. 7-12
    • Williams, D.R.1    Lees, A.J.2
  • 31
    • 84873639356 scopus 로고    scopus 로고
    • Criteria for the diagnosis of corticobasal degeneration
    • Armstrong MJ, Litvan I, Lang AE, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 2013;80:496-503.
    • (2013) Neurology , vol.80 , pp. 496-503
    • Armstrong, M.J.1    Litvan, I.2    Lang, A.E.3
  • 32
    • 80855162337 scopus 로고    scopus 로고
    • Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome
    • Kouri N, Murray ME, Hassan A, et al. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain 2011;134(Pt 11):3264-3275.
    • (2011) Brain , vol.134 , Issue.PART 11 , pp. 3264-3275
    • Kouri, N.1    Murray, M.E.2    Hassan, A.3
  • 33
    • 79955076348 scopus 로고    scopus 로고
    • Hypodipsia discriminates progressive supranuclear palsy from other parkinsonian syndromes
    • Stamelou M, Christ H, Reuss A, Oertel W, Hoglinger G. Hypodipsia discriminates progressive supranuclear palsy from other parkinsonian syndromes. Mov Disord 2011;26:901-905.
    • (2011) Mov Disord , vol.26 , pp. 901-905
    • Stamelou, M.1    Christ, H.2    Reuss, A.3    Oertel, W.4    Hoglinger, G.5
  • 34
    • 84860176025 scopus 로고    scopus 로고
    • Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease
    • Ling H, Massey LA, Lees AJ, Brown P, Day BL. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. Brain 2012;135(Pt 4):1141-1153.
    • (2012) Brain , vol.135 , Issue.PART 4 , pp. 1141-1153
    • Ling, H.1    Massey, L.A.2    Lees, A.J.3    Brown, P.4    Day, B.L.5
  • 35
    • 84871768775 scopus 로고    scopus 로고
    • Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy
    • Massey LA, Micallef C, Paviour DC, et al. Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Mov Disord 2012;27:1754-1762.
    • (2012) Mov Disord , vol.27 , pp. 1754-1762
    • Massey, L.A.1    Micallef, C.2    Paviour, D.C.3
  • 36
    • 77649138106 scopus 로고    scopus 로고
    • What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)?
    • Williams DR, Lees AJ. What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)? Mov Disord 2010;25:357-362.
    • (2010) Mov Disord , vol.25 , pp. 357-362
    • Williams, D.R.1    Lees, A.J.2
  • 37
    • 84877630721 scopus 로고    scopus 로고
    • The differential diagnosis of Huntington's disease-like syndromes: "red flags" for the clinician
    • [Epub Sep 19. DOI:10.1136/jnnp-2012-302532].
    • Martino D, Stamelou M, Bhatia KP. The differential diagnosis of Huntington's disease-like syndromes: "red flags" for the clinician. J Neurol Neurosurg Psychiatry (in press) [Epub 2012 Sep 19. DOI:10.1136/jnnp-2012-302532].
    • (2012) J Neurol Neurosurg Psychiatry
    • Martino, D.1    Stamelou, M.2    Bhatia, K.P.3
  • 40
    • 80855123673 scopus 로고    scopus 로고
    • Parkinsonism and frontotemporal dementia: the clinical overlap
    • Espay AJ, Litvan I. Parkinsonism and frontotemporal dementia: the clinical overlap. J Mol Neurosci 2011;45:343-349.
    • (2011) J Mol Neurosci , vol.45 , pp. 343-349
    • Espay, A.J.1    Litvan, I.2
  • 41
    • 81855185515 scopus 로고    scopus 로고
    • Phenotypic signatures of genetic frontotemporal dementia
    • Rohrer JD, Warren JD. Phenotypic signatures of genetic frontotemporal dementia. Curr Opin Neurol 2011;24:542-549.
    • (2011) Curr Opin Neurol , vol.24 , pp. 542-549
    • Rohrer, J.D.1    Warren, J.D.2
  • 42
    • 0038353463 scopus 로고    scopus 로고
    • Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
    • Morris HR, Osaki Y, Holton J, et al. Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 2003;61:102-104.
    • (2003) Neurology , vol.61 , pp. 102-104
    • Morris, H.R.1    Osaki, Y.2    Holton, J.3
  • 43
    • 79951493266 scopus 로고    scopus 로고
    • An algorithm for genetic testing of frontotemporal lobar degeneration
    • Goldman JS, Rademakers R, Huey ED, et al. An algorithm for genetic testing of frontotemporal lobar degeneration. Neurology 2011;76:475-483.
    • (2011) Neurology , vol.76 , pp. 475-483
    • Goldman, J.S.1    Rademakers, R.2    Huey, E.D.3
  • 44
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000;123(Pt 5):880-893.
    • (2000) Brain , vol.123 , Issue.PART 5 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3
  • 45
    • 0035134195 scopus 로고    scopus 로고
    • Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    • Pastor P, Pastor E, Carnero C, et al. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 2001;49:263-267.
    • (2001) Ann Neurol , vol.49 , pp. 263-267
    • Pastor, P.1    Pastor, E.2    Carnero, C.3
  • 46
    • 0036771837 scopus 로고    scopus 로고
    • An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
    • Poorkaj P, Muma NA, Zhukareva V, et al. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002;52:511-516.
    • (2002) Ann Neurol , vol.52 , pp. 511-516
    • Poorkaj, P.1    Muma, N.A.2    Zhukareva, V.3
  • 47
    • 10744228528 scopus 로고    scopus 로고
    • Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
    • Rossi G, Gasparoli E, Pasquali C, et al. Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. Ann Neurol 2004;55:448.
    • (2004) Ann Neurol , vol.55 , pp. 448
    • Rossi, G.1    Gasparoli, E.2    Pasquali, C.3
  • 48
    • 25144460507 scopus 로고    scopus 로고
    • A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy
    • Ros R, Thobois S, Streichenberger N, et al. A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. Arch Neurol 2005;62:1444-1450.
    • (2005) Arch Neurol , vol.62 , pp. 1444-1450
    • Ros, R.1    Thobois, S.2    Streichenberger, N.3
  • 49
    • 0033059975 scopus 로고    scopus 로고
    • Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau
    • Bugiani O, Murrell JR, Giaccone G, et al. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999;58:667-677.
    • (1999) J Neuropathol Exp Neurol , vol.58 , pp. 667-677
    • Bugiani, O.1    Murrell, J.R.2    Giaccone, G.3
  • 50
    • 29144449788 scopus 로고    scopus 로고
    • Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability
    • Casseron W, Azulay JP, Guedj E, Gastaut JL, Pouget J. Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability. J Neurol 2005;252:1546-1548.
    • (2005) J Neurol , vol.252 , pp. 1546-1548
    • Casseron, W.1    Azulay, J.P.2    Guedj, E.3    Gastaut, J.L.4    Pouget, J.5
  • 51
    • 33847194237 scopus 로고    scopus 로고
    • Hereditary frontotemporal dementia caused by Tau gene mutations
    • van Swieten J, Spillantini MG. Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 2007;17:63-73.
    • (2007) Brain Pathol , vol.17 , pp. 63-73
    • van Swieten, J.1    Spillantini, M.G.2
  • 52
    • 52449099214 scopus 로고    scopus 로고
    • The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
    • Rossi G, Marelli C, Farina L, et al. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov Disord 2008;23:892-895.
    • (2008) Mov Disord , vol.23 , pp. 892-895
    • Rossi, G.1    Marelli, C.2    Farina, L.3
  • 54
    • 79953879390 scopus 로고    scopus 로고
    • Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
    • Chen-Plotkin AS, Martinez-Lage M, Sleiman PM, et al. Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011;68:488-497.
    • (2011) Arch Neurol , vol.68 , pp. 488-497
    • Chen-Plotkin, A.S.1    Martinez-Lage, M.2    Sleiman, P.M.3
  • 55
    • 77649192195 scopus 로고    scopus 로고
    • Brain progranulin expression in GRN-associated frontotemporal lobar degeneration
    • Chen-Plotkin AS, Xiao J, Geser F, et al. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Acta Neuropathol 2010;119:111-122.
    • (2010) Acta Neuropathol , vol.119 , pp. 111-122
    • Chen-Plotkin, A.S.1    Xiao, J.2    Geser, F.3
  • 56
    • 64849103956 scopus 로고    scopus 로고
    • Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
    • Finch N, Baker M, Crook R, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 2009;132(Pt 3):583-591.
    • (2009) Brain , vol.132 , Issue.PART 3 , pp. 583-591
    • Finch, N.1    Baker, M.2    Crook, R.3
  • 58
    • 42249085980 scopus 로고    scopus 로고
    • Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
    • Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 2008;65:460-464.
    • (2008) Arch Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 59
    • 84893829440 scopus 로고    scopus 로고
    • MAPT-related disorders
    • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Seattle, WA: University of Washington, Seattle; 1993- (first posted November 7, 2000; updated October 26, 2010). Available at: Accessed April 24
    • van Swieten JC, Rosso SM, Heutink P. MAPT-related disorders. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted November 7, 2000; updated October 26, 2010). Available at: http://www.ncbi.nlm.nih.gov/books/NBK1505/. Accessed April 24, 2013.
    • (2013) GeneReviews™
    • van Swieten, J.C.1    Rosso, S.M.2    Heutink, P.3
  • 60
    • 67649103652 scopus 로고    scopus 로고
    • Pattern of behavioral disturbances in corticobasal degeneration syndrome and progressive supranuclear palsy
    • Borroni B, Alberici A, Agosti C, Cosseddu M, Padovani A. Pattern of behavioral disturbances in corticobasal degeneration syndrome and progressive supranuclear palsy. Int Psychogeriatr 2009;21:463-468.
    • (2009) Int Psychogeriatr , vol.21 , pp. 463-468
    • Borroni, B.1    Alberici, A.2    Agosti, C.3    Cosseddu, M.4    Padovani, A.5
  • 62
    • 74149085458 scopus 로고    scopus 로고
    • Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy
    • Kertesz A, McMonagle P. Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy. J Neurol Sci 2010;289(1-2):138-143.
    • (2010) J Neurol Sci , vol.289 , Issue.1-2 , pp. 138-143
    • Kertesz, A.1    McMonagle, P.2
  • 63
    • 77955064399 scopus 로고    scopus 로고
    • In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS
    • Knake S, Belke M, Menzler K, et al. In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS. Mov Disord 2010;25:1232-1238.
    • (2010) Mov Disord , vol.25 , pp. 1232-1238
    • Knake, S.1    Belke, M.2    Menzler, K.3
  • 64
    • 79953832904 scopus 로고    scopus 로고
    • Magnetic resonance imaging in progressive supranuclear palsy
    • Stamelou M, Knake S, Oertel WH, Hoglinger GU. Magnetic resonance imaging in progressive supranuclear palsy. J Neurol 2011;258:549-558.
    • (2011) J Neurol , vol.258 , pp. 549-558
    • Stamelou, M.1    Knake, S.2    Oertel, W.H.3    Hoglinger, G.U.4
  • 65
    • 39749141572 scopus 로고    scopus 로고
    • A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
    • Beck J, Rohrer JD, Campbell T, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain 2008;131(Pt 3):706-720.
    • (2008) Brain , vol.131 , Issue.PART 3 , pp. 706-720
    • Beck, J.1    Rohrer, J.D.2    Campbell, T.3
  • 66
    • 76149123541 scopus 로고    scopus 로고
    • The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
    • Yu CE, Bird TD, Bekris LM, et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010;67:161-170.
    • (2010) Arch Neurol , vol.67 , pp. 161-170
    • Yu, C.E.1    Bird, T.D.2    Bekris, L.M.3
  • 68
    • 84857588946 scopus 로고    scopus 로고
    • Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
    • Whitwell JL, Weigand SD, Boeve BF, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain 2012;135(Pt 3):794-806.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 794-806
    • Whitwell, J.L.1    Weigand, S.D.2    Boeve, B.F.3
  • 69
    • 84858620858 scopus 로고    scopus 로고
    • C9orf72 repeat expansions in patients with ALS and FTD
    • Rademakers R. C9orf72 repeat expansions in patients with ALS and FTD. Lancet Neurol 2012;11:297-298.
    • (2012) Lancet Neurol , vol.11 , pp. 297-298
    • Rademakers, R.1
  • 70
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
    • Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11:323-330.
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3
  • 71
    • 84857517997 scopus 로고    scopus 로고
    • Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
    • Mahoney CJ, Beck J, Rohrer JD, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 2012;135(Pt 3):736-750.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 736-750
    • Mahoney, C.J.1    Beck, J.2    Rohrer, J.D.3
  • 72
    • 84863393788 scopus 로고    scopus 로고
    • Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    • Boeve BF, Boylan KB, Graff-Radford NR, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012;135(Pt 3):765-783.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 765-783
    • Boeve, B.F.1    Boylan, K.B.2    Graff-Radford, N.R.3
  • 73
    • 84857522741 scopus 로고    scopus 로고
    • Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    • Chio A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012;135(Pt 3):784-793.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 784-793
    • Chio, A.1    Borghero, G.2    Restagno, G.3
  • 74
    • 84857054634 scopus 로고    scopus 로고
    • Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    • Cooper-Knock J, Hewitt C, Highley JR, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135(Pt 3):751-764.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 751-764
    • Cooper-Knock, J.1    Hewitt, C.2    Highley, J.R.3
  • 75
    • 84857612209 scopus 로고    scopus 로고
    • Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat
    • Hodges J. Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. Brain 2012;135(Pt 3):652-655.
    • (2012) Brain , vol.135 , Issue.PART 3 , pp. 652-655
    • Hodges, J.1
  • 76
    • 67649470543 scopus 로고    scopus 로고
    • Characterization of DCTN1 genetic variability in neurodegeneration
    • Vilarino-Guell C, Wider C, Soto-Ortolaza AI, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology 2009;72:2024-2028.
    • (2009) Neurology , vol.72 , pp. 2024-2028
    • Vilarino-Guell, C.1    Wider, C.2    Soto-Ortolaza, A.I.3
  • 78
    • 77958152230 scopus 로고    scopus 로고
    • Autonomic failures in Perry syndrome with DCTN1 mutation
    • Ohshima S, Tsuboi Y, Yamamoto A, et al. Autonomic failures in Perry syndrome with DCTN1 mutation. Parkinsonism Relat Disord 2010;16:612-614.
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 612-614
    • Ohshima, S.1    Tsuboi, Y.2    Yamamoto, A.3
  • 80
    • 0025607841 scopus 로고
    • Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases
    • Perry TL, Wright JM, Berry K, Hansen S, Perry TL Jr. Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases. Neurology 1990;40:1882-1887.
    • (1990) Neurology , vol.40 , pp. 1882-1887
    • Perry, T.L.1    Wright, J.M.2    Berry, K.3    Hansen, S.4    Perry Jr., T.L.5
  • 81
    • 0018583305 scopus 로고
    • Familial fatal Parkinsonism with alveolar hypoventilation and mental depression
    • Purdy A, Hahn A, Barnett HJ, et al. Familial fatal Parkinsonism with alveolar hypoventilation and mental depression. Ann Neurol 1979;6:523-531.
    • (1979) Ann Neurol , vol.6 , pp. 523-531
    • Purdy, A.1    Hahn, A.2    Barnett, H.J.3
  • 82
    • 38149021478 scopus 로고    scopus 로고
    • Neurodegeneration involving putative respiratory neurons in Perry syndrome
    • Tsuboi Y, Dickson DW, Nabeshima K, et al. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol 2008;115:263-268.
    • (2008) Acta Neuropathol , vol.115 , pp. 263-268
    • Tsuboi, Y.1    Dickson, D.W.2    Nabeshima, K.3
  • 83
    • 0026599414 scopus 로고
    • [Familial parkinsonian syndrome with athymhormia and hypoventilation]
    • Paris. [French].
    • Lechevalier B, Schupp C, Fallet-Bianco C, et al. [Familial parkinsonian syndrome with athymhormia and hypoventilation]. Rev Neurol (Paris) 1992;148:39-46. [French].
    • (1992) Rev Neurol , vol.148 , pp. 39-46
    • Lechevalier, B.1    Schupp, C.2    Fallet-Bianco, C.3
  • 84
    • 0027491501 scopus 로고
    • Familial parkinsonism with depression: a clinicopathological study
    • Bhatia KP, Daniel SE, Marsden CD. Familial parkinsonism with depression: a clinicopathological study. Ann Neurol 1993;34:842-847.
    • (1993) Ann Neurol , vol.34 , pp. 842-847
    • Bhatia, K.P.1    Daniel, S.E.2    Marsden, C.D.3
  • 86
    • 38349106754 scopus 로고    scopus 로고
    • Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)-a literature review
    • Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)-a literature review. Parkinsonism Relat Disord 2008;14:1-7.
    • (2008) Parkinsonism Relat Disord , vol.14 , pp. 1-7
    • Wider, C.1    Wszolek, Z.K.2
  • 87
    • 77956853710 scopus 로고    scopus 로고
    • Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
    • Behrens MI, Bruggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010;25:1929-1937.
    • (2010) Mov Disord , vol.25 , pp. 1929-1937
    • Behrens, M.I.1    Bruggemann, N.2    Chana, P.3
  • 88
    • 84862332594 scopus 로고    scopus 로고
    • Syndromes of neurodegeneration with brain iron accumulation
    • Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 2012;19:57-66.
    • (2012) Semin Pediatr Neurol , vol.19 , pp. 57-66
    • Schneider, S.A.1    Bhatia, K.P.2
  • 89
    • 84861723960 scopus 로고    scopus 로고
    • Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
    • Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012;21:2646-2650.
    • (2012) Hum Mol Genet , vol.21 , pp. 2646-2650
    • Bras, J.1    Verloes, A.2    Schneider, S.A.3    Mole, S.E.4    Guerreiro, R.J.5
  • 90
    • 27844571985 scopus 로고    scopus 로고
    • Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
    • Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005;20:1264-1271.
    • (2005) Mov Disord , vol.20 , pp. 1264-1271
    • Williams, D.R.1    Hadeed, A.2    al-Din, A.S.3    Wreikat, A.L.4    Lees, A.J.5
  • 91
    • 78349233855 scopus 로고    scopus 로고
    • Eye movement disorders in ATP13A2 mutation carriers (PARK9)
    • Machner B, Sprenger A, Behrens MI, et al. Eye movement disorders in ATP13A2 mutation carriers (PARK9). Mov Disord 2010;25:2687-2689.
    • (2010) Mov Disord , vol.25 , pp. 2687-2689
    • Machner, B.1    Sprenger, A.2    Behrens, M.I.3
  • 92
    • 70450161985 scopus 로고    scopus 로고
    • ATP13A2 variants in early-onset Parkinson's disease patients and controls
    • Djarmati A, Hagenah J, Reetz K, et al. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009;24:2104-2111.
    • (2009) Mov Disord , vol.24 , pp. 2104-2111
    • Djarmati, A.1    Hagenah, J.2    Reetz, K.3
  • 93
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006;38:1184-1191.
    • (2006) Nat Genet , vol.38 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3
  • 94
    • 79960836347 scopus 로고    scopus 로고
    • Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
    • Park JS, Mehta P, Cooper AA, et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat 2011;32:956-964.
    • (2011) Hum Mutat , vol.32 , pp. 956-964
    • Park, J.S.1    Mehta, P.2    Cooper, A.A.3
  • 95
    • 77953338445 scopus 로고    scopus 로고
    • ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
    • Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord 2010;25:979-984.
    • (2010) Mov Disord , vol.25 , pp. 979-984
    • Schneider, S.A.1    Paisan-Ruiz, C.2    Quinn, N.P.3
  • 96
    • 42949158787 scopus 로고    scopus 로고
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
    • * and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008;70:1614-1619.
    • (2008) Neurology , vol.70 , pp. 1614-1619
    • McNeill, A.1    Birchall, D.2    Hayflick, S.J.3
  • 97
    • 84858285794 scopus 로고    scopus 로고
    • Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy
    • Boelmans K, Holst B, Hackius M, et al. Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy. Mov Disord 2012;27:421-427.
    • (2012) Mov Disord , vol.27 , pp. 421-427
    • Boelmans, K.1    Holst, B.2    Hackius, M.3
  • 98
    • 84863146124 scopus 로고    scopus 로고
    • Different iron-deposition patterns of multiple system atrophy with predominant parkinsonism and idiopathetic Parkinson diseases demonstrated by phase-corrected susceptibility-weighted imaging
    • Wang Y, Butros SR, Shuai X, et al. Different iron-deposition patterns of multiple system atrophy with predominant parkinsonism and idiopathetic Parkinson diseases demonstrated by phase-corrected susceptibility-weighted imaging. AJNR Am J Neuroradiol 2012;33:266-273.
    • (2012) AJNR Am J Neuroradiol , vol.33 , pp. 266-273
    • Wang, Y.1    Butros, S.R.2    Shuai, X.3
  • 99
    • 67650345396 scopus 로고    scopus 로고
    • Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits
    • Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology 2009;72:1083-1086.
    • (2009) Neurology , vol.72 , pp. 1083-1086
    • Abel, L.A.1    Walterfang, M.2    Fietz, M.3    Bowman, E.A.4    Velakoulis, D.5
  • 100
    • 33845910402 scopus 로고    scopus 로고
    • The adult form of Niemann-Pick disease type C
    • Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007;130(Pt 1):120-133.
    • (2007) Brain , vol.130 , Issue.PART 1 , pp. 120-133
    • Sevin, M.1    Lesca, G.2    Baumann, N.3
  • 101
    • 70349742377 scopus 로고    scopus 로고
    • Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
    • Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab 2009;98:250-254.
    • (2009) Mol Genet Metab , vol.98 , pp. 250-254
    • Wraith, J.E.1    Guffon, N.2    Rohrbach, M.3
  • 102
    • 67849098806 scopus 로고    scopus 로고
    • Recommendations on the diagnosis and management of Niemann-Pick disease type C
    • Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98(1-2):152-165.
    • (2009) Mol Genet Metab , vol.98 , Issue.1-2 , pp. 152-165
    • Wraith, J.E.1    Baumgartner, M.R.2    Bembi, B.3
  • 104
    • 77649338413 scopus 로고    scopus 로고
    • Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial
    • Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab 2010;99:351-357.
    • (2010) Mol Genet Metab , vol.99 , pp. 351-357
    • Wraith, J.E.1    Vecchio, D.2    Jacklin, E.3
  • 105
    • 33846412228 scopus 로고    scopus 로고
    • The natural history of Niemann-Pick disease type C in the UK
    • Imrie J, Dasgupta S, Besley GT, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007;30:51-59.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 51-59
    • Imrie, J.1    Dasgupta, S.2    Besley, G.T.3
  • 106
    • 84863594896 scopus 로고    scopus 로고
    • Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
    • Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560-1567.
    • (2012) Neurology , vol.78 , pp. 1560-1567
    • Wijburg, F.A.1    Sedel, F.2    Pineda, M.3
  • 107
    • 84870601632 scopus 로고    scopus 로고
    • Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures
    • Abel LA, Bowman EA, Velakoulis D, et al. Saccadic eye movement characteristics in adult Niemann-Pick type C disease: relationships with disease severity and brain structural measures. PLoS One 2012;7:e50947.
    • (2012) PLoS One , vol.7
    • Abel, L.A.1    Bowman, E.A.2    Velakoulis, D.3
  • 108
    • 84856859751 scopus 로고    scopus 로고
    • Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C
    • Walterfang M, Macfarlane MD, Looi JC, et al. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. Eur J Neurol 2012;19:462-467.
    • (2012) Eur J Neurol , vol.19 , pp. 462-467
    • Walterfang, M.1    Macfarlane, M.D.2    Looi, J.C.3
  • 109
    • 0034848419 scopus 로고    scopus 로고
    • Gaucher disease and parkinsonism: a phenotypic and genotypic characterization
    • Tayebi N, Callahan M, Madike V, et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001;73:313-321.
    • (2001) Mol Genet Metab , vol.73 , pp. 313-321
    • Tayebi, N.1    Callahan, M.2    Madike, V.3
  • 110
    • 0038460778 scopus 로고    scopus 로고
    • Gaucher disease associated with parkinsonism: four further case reports
    • Varkonyi J, Rosenbaum H, Baumann N, et al. Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet A 2003;116A:348-351.
    • (2003) Am J Med Genet A , vol.116 A , pp. 348-351
    • Varkonyi, J.1    Rosenbaum, H.2    Baumann, N.3
  • 111
  • 112
    • 3242703423 scopus 로고    scopus 로고
    • Neuropathology provides clues to the pathophysiology of Gaucher disease
    • Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004;82:192-207.
    • (2004) Mol Genet Metab , vol.82 , pp. 192-207
    • Wong, K.1    Sidransky, E.2    Verma, A.3
  • 113
    • 70249092205 scopus 로고    scopus 로고
    • Recommendations on diagnosis, treatment, and monitoring for Gaucher disease
    • Martins AM, Valadares ER, Porta G, et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009;155(4 Suppl):S10-S18.
    • (2009) J Pediatr , vol.155 , Issue.4 SUPPL.
    • Martins, A.M.1    Valadares, E.R.2    Porta, G.3
  • 114
  • 115
    • 77954969061 scopus 로고    scopus 로고
    • Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review
    • Alonso-Canovas A, Katschnig P, Tucci A, et al. Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review. Mov Disord 2010;25:1506-1509.
    • (2010) Mov Disord , vol.25 , pp. 1506-1509
    • Alonso-Canovas, A.1    Katschnig, P.2    Tucci, A.3
  • 118
    • 79951980150 scopus 로고    scopus 로고
    • Visual signs and symptoms of progressive supranuclear palsy
    • Armstrong RA. Visual signs and symptoms of progressive supranuclear palsy. Clin Exp Optom 2011;94:150-160.
    • (2011) Clin Exp Optom , vol.94 , pp. 150-160
    • Armstrong, R.A.1
  • 119
    • 12444296116 scopus 로고    scopus 로고
    • Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
    • Tayebi N, Walker J, Stubblefield B, et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 2003;79:104-109.
    • (2003) Mol Genet Metab , vol.79 , pp. 104-109
  • 121
    • 84859423454 scopus 로고    scopus 로고
    • Hyposmia and cognitive impairment in Gaucher disease patients and carriers
    • McNeill A, Duran R, Proukakis C, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 2012;27:526-532.
    • (2012) Mov Disord , vol.27 , pp. 526-532
    • McNeill, A.1    Duran, R.2    Proukakis, C.3
  • 122
    • 69949134511 scopus 로고    scopus 로고
    • The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
    • DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009;24:1571-1578.
    • (2009) Mov Disord , vol.24 , pp. 1571-1578
    • DePaolo, J.1    Goker-Alpan, O.2    Samaddar, T.3    Lopez, G.4    Sidransky, E.5
  • 123
    • 45849136270 scopus 로고    scopus 로고
    • Non-neuronopathic" Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature
    • Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. "Non-neuronopathic" Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008;31:337-349.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 337-349
    • Biegstraaten, M.1    van Schaik, I.N.2    Aerts, J.M.3    Hollak, C.E.4
  • 125
    • 0028923339 scopus 로고
    • Supranuclear eye movement dysfunction in mitochondrial myopathy with tRNA(LEU) mutation
    • Gupta SR, Brigell M, Gujrati M, Lee JM. Supranuclear eye movement dysfunction in mitochondrial myopathy with tRNA(LEU) mutation. J Neuroophthalmol 1995;15:20-25.
    • (1995) J Neuroophthalmol , vol.15 , pp. 20-25
    • Gupta, S.R.1    Brigell, M.2    Gujrati, M.3    Lee, J.M.4
  • 126
    • 0028292344 scopus 로고
    • [Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]
    • Hara K, Yamamoto M, Anegawa T, Sakuta R, Nakamura M. [Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. Rinsho Shinkeigaku 1994;34:361-365.
    • (1994) Rinsho Shinkeigaku , vol.34 , pp. 361-365
    • Hara, K.1    Yamamoto, M.2    Anegawa, T.3    Sakuta, R.4    Nakamura, M.5
  • 128
    • 0026662717 scopus 로고
    • Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy
    • Bertoni JM, Brown P, Goldfarb LG, Rubenstein R, Gajdusek DC. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. JAMA 1992;268:2413-2415.
    • (1992) JAMA , vol.268 , pp. 2413-2415
    • Bertoni, J.M.1    Brown, P.2    Goldfarb, L.G.3    Rubenstein, R.4    Gajdusek, D.C.5
  • 130
    • 0344837282 scopus 로고    scopus 로고
    • A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy
    • Shimamura M, Uyama E, Hirano T, et al. A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy. Intern Med 2003;42:195-198.
    • (2003) Intern Med , vol.42 , pp. 195-198
    • Shimamura, M.1    Uyama, E.2    Hirano, T.3
  • 131
    • 84859341110 scopus 로고    scopus 로고
    • Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy
    • Matej R, Kovacs GG, Johanidesova S, et al. Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy. Mov Disord 2012;27:476-479.
    • (2012) Mov Disord , vol.27 , pp. 476-479
    • Matej, R.1    Kovacs, G.G.2    Johanidesova, S.3
  • 132
    • 78651257339 scopus 로고    scopus 로고
    • Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy
    • Kovacs GG, Seguin J, Quadrio I, et al. Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 2011;121:39-57.
    • (2011) Acta Neuropathol , vol.121 , pp. 39-57
    • Kovacs, G.G.1    Seguin, J.2    Quadrio, I.3
  • 133
    • 34047199059 scopus 로고    scopus 로고
    • Novel prion protein gene mutation presenting with subacute PSP-like syndrome
    • Rowe DB, Lewis V, Needham M, et al. Novel prion protein gene mutation presenting with subacute PSP-like syndrome. Neurology 2007;68:868-870.
    • (2007) Neurology , vol.68 , pp. 868-870
    • Rowe, D.B.1    Lewis, V.2    Needham, M.3
  • 134
    • 84874285484 scopus 로고    scopus 로고
    • Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene
    • Breithaupt M, Romero C, Kallenberg K, et al. Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene. Alzheimer Dis Assoc Disord 2013;27:87-90.
    • (2013) Alzheimer Dis Assoc Disord , vol.27 , pp. 87-90
    • Breithaupt, M.1    Romero, C.2    Kallenberg, K.3
  • 135
    • 38949174973 scopus 로고    scopus 로고
    • A novel deletion in progranulin gene is associated with FTDP-17 and CBS
    • Benussi L, Binetti G, Sina E, et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 2008;29:427-435.
    • (2008) Neurobiol Aging , vol.29 , pp. 427-435
    • Benussi, L.1    Binetti, G.2    Sina, E.3
  • 136
    • 60949099072 scopus 로고    scopus 로고
    • Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
    • Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 2009;33:379-385.
    • (2009) Neurobiol Dis , vol.33 , pp. 379-385
    • Benussi, L.1    Ghidoni, R.2    Pegoiani, E.3    Moretti, D.V.4    Zanetti, O.5    Binetti, G.6
  • 137
    • 33750576831 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study
    • Boeve BF, Baker M, Dickson DW, et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain 2006;129(Pt 11):3103-3114.
    • (2006) Brain , vol.129 , Issue.PART 11 , pp. 3103-3114
    • Boeve, B.F.1    Baker, M.2    Dickson, D.W.3
  • 138
    • 84860390154 scopus 로고    scopus 로고
    • Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation
    • Dopper EG, Seelaar H, Chiu WZ, et al. Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. J Mol Neurosci 2011;45:354-358.
    • (2011) J Mol Neurosci , vol.45 , pp. 354-358
    • Dopper, E.G.1    Seelaar, H.2    Chiu, W.Z.3
  • 139
    • 51449107701 scopus 로고    scopus 로고
    • Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases
    • Guerreiro RJ, Santana I, Bras JM, et al. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord 2008;23:1269-1273.
    • (2008) Mov Disord , vol.23 , pp. 1269-1273
    • Guerreiro, R.J.1    Santana, I.2    Bras, J.M.3
  • 140
    • 62349102691 scopus 로고    scopus 로고
    • Prominent phenotypic variability associated with mutations in Progranulin
    • Kelley BJ, Haidar W, Boeve BF, et al. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiol Aging 2009;30:739-751.
    • (2009) Neurobiol Aging , vol.30 , pp. 739-751
    • Kelley, B.J.1    Haidar, W.2    Boeve, B.F.3
  • 141
    • 79952595988 scopus 로고    scopus 로고
    • Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia
    • Passov V, Gavrilova RH, Strand E, Cerhan JH, Josephs KA. Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia. Arch Neurol 2011;68:376-380.
    • (2011) Arch Neurol , vol.68 , pp. 376-380
    • Passov, V.1    Gavrilova, R.H.2    Strand, E.3    Cerhan, J.H.4    Josephs, K.A.5
  • 142
    • 34548633862 scopus 로고    scopus 로고
    • Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative
    • Rademakers R, Baker M, Gass J, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007;6:857-868.
    • (2007) Lancet Neurol , vol.6 , pp. 857-868
    • Rademakers, R.1    Baker, M.2    Gass, J.3
  • 143
    • 70449377606 scopus 로고    scopus 로고
    • Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation
    • Rohrer JD, Beck J, Warren JD, et al. Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation. J Neurol Neurosurg Psychiatry 2009;80:1297-1298.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 1297-1298
    • Rohrer, J.D.1    Beck, J.2    Warren, J.D.3
  • 144
    • 34948898536 scopus 로고    scopus 로고
    • Corticobasal syndrome associated with the A9D Progranulin mutation
    • Spina S, Murrell JR, Huey ED, et al. Corticobasal syndrome associated with the A9D Progranulin mutation. J Neuropathol Exp Neurol 2007;66:892-900.
    • (2007) J Neuropathol Exp Neurol , vol.66 , pp. 892-900
    • Spina, S.1    Murrell, J.R.2    Huey, E.D.3
  • 145
    • 51449089054 scopus 로고    scopus 로고
    • Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    • van Swieten JC, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 2008;7:965-974.
    • (2008) Lancet Neurol , vol.7 , pp. 965-974
    • van Swieten, J.C.1    Heutink, P.2
  • 146
    • 39749135522 scopus 로고    scopus 로고
    • Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
    • Le Ber I, Camuzat A, Hannequin D, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 2008;131(Pt 3):732-746.
    • (2008) Brain , vol.131 , Issue.PART 3 , pp. 732-746
    • Le Ber, I.1    Camuzat, A.2    Hannequin, D.3
  • 147
    • 42949138769 scopus 로고    scopus 로고
    • Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings
    • Lopez de Munain A, Alzualde A, Gorostidi A, et al. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry 2008;63:946-952.
    • (2008) Biol Psychiatry , vol.63 , pp. 946-952
    • Lopez de Munain, A.1    Alzualde, A.2    Gorostidi, A.3
  • 148
    • 84861130735 scopus 로고    scopus 로고
    • Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
    • Herdewyn S, Zhao H, Moisse M, et al. Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet 2012;21:2412-2419.
    • (2012) Hum Mol Genet , vol.21 , pp. 2412-2419
    • Herdewyn, S.1    Zhao, H.2    Moisse, M.3
  • 149
    • 34848906841 scopus 로고    scopus 로고
    • Focal cortical presentations of Alzheimer's disease
    • Alladi S, Xuereb J, Bak T, et al. Focal cortical presentations of Alzheimer's disease. Brain 2007;130(Pt 10):2636-2645.
    • (2007) Brain , vol.130 , Issue.PART 10 , pp. 2636-2645
    • Alladi, S.1    Xuereb, J.2    Bak, T.3
  • 152
    • 80054946555 scopus 로고    scopus 로고
    • The corticobasal syndrome-Alzheimer's disease conundrum
    • Hassan A, Whitwell JL, Josephs KA. The corticobasal syndrome-Alzheimer's disease conundrum. Expert Rev Neurother 2011;11:1569-1578.
    • (2011) Expert Rev Neurother , vol.11 , pp. 1569-1578
    • Hassan, A.1    Whitwell, J.L.2    Josephs, K.A.3
  • 153
    • 77955060966 scopus 로고    scopus 로고
    • Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease
    • Josephs KA, Whitwell JL, Boeve BF, et al. Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease. Mov Disord 2010;25:1246-1252.
    • (2010) Mov Disord , vol.25 , pp. 1246-1252
    • Josephs, K.A.1    Whitwell, J.L.2    Boeve, B.F.3
  • 154
    • 0036526144 scopus 로고    scopus 로고
    • Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration
    • Lleo A, Rey MJ, Castellvi M, Ferrer I, Blesa R. Asymmetric myoclonic parietal syndrome in a patient with Alzheimer's disease mimicking corticobasal degeneration. Neurologia 2002;17:223-226.
    • (2002) Neurologia , vol.17 , pp. 223-226
    • Lleo, A.1    Rey, M.J.2    Castellvi, M.3    Ferrer, I.4    Blesa, R.5
  • 155
    • 37349008473 scopus 로고    scopus 로고
    • Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis
    • Boeve BF. Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis. Alzheimer Dis Assoc Disord 2007;21:S31-S38.
    • (2007) Alzheimer Dis Assoc Disord , vol.21
    • Boeve, B.F.1
  • 156
    • 79960817329 scopus 로고    scopus 로고
    • A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features
    • Gallo M, Marcello N, Curcio SA, et al. A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. J Alzheimers Dis 2011;25:425-431.
    • (2011) J Alzheimers Dis , vol.25 , pp. 425-431
    • Gallo, M.1    Marcello, N.2    Curcio, S.A.3
  • 157
    • 32844465332 scopus 로고    scopus 로고
    • Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
    • Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 2006;253:139-158.
    • (2006) J Neurol , vol.253 , pp. 139-158
    • Larner, A.J.1    Doran, M.2
  • 158
    • 84859987906 scopus 로고    scopus 로고
    • Saccade abnormalities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer disease
    • Boxer AL, Garbutt S, Seeley WW, et al. Saccade abnormalities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer disease. Arch Neurol 2012;69:509-517.
    • (2012) Arch Neurol , vol.69 , pp. 509-517
    • Boxer, A.L.1    Garbutt, S.2    Seeley, W.W.3
  • 159
    • 79960145969 scopus 로고    scopus 로고
    • Presenilin-2 gene mutation presenting as Lewy body dementia?
    • Raciti L, Nicoletti A, Le Pira F, et al. Presenilin-2 gene mutation presenting as Lewy body dementia? Neurol Sci 2011;32:533-534.
    • (2011) Neurol Sci , vol.32 , pp. 533-534
    • Raciti, L.1    Nicoletti, A.2    Le Pira, F.3
  • 160
    • 77952304021 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge
    • Bjorkhem I, Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun 2010;396:46-49.
    • (2010) Biochem Biophys Res Commun , vol.396 , pp. 46-49
    • Bjorkhem, I.1    Hansson, M.2
  • 161
    • 84871723310 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis
    • Pagon RA, Bird TD, Dolan CR, GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted July 16, 2003; updated October 20, 2011). Available at: Accessed April 24
    • Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews™. Seattle, WA: University of Washington, Seattle; 1993- (first posted July 16, 2003; updated October 20, 2011). Available at: http://www.ncbi.nlm.nih.gov/books/NBK1409/. Accessed April 24, 2013.
    • (2013)
    • Federico, A.1    Dotti, M.T.2    Gallus, G.N.3
  • 162
    • 79961166408 scopus 로고    scopus 로고
    • [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]
    • Pilo de la Fuente B, Sobrido MJ, Giros M, et al. [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. Neurologia 2011;26:397-404.
    • (2011) Neurologia , vol.26 , pp. 397-404
    • Pilo de la Fuente, B.1    Sobrido, M.J.2    Giros, M.3
  • 163
    • 80052806070 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
    • Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. Eur J Neurol 2011;18:1203-1211.
    • (2011) Eur J Neurol , vol.18 , pp. 1203-1211
    • Pilo-de-la-Fuente, B.1    Jimenez-Escrig, A.2    Lorenzo, J.R.3
  • 165
    • 0026133499 scopus 로고
    • Parkinsonism in cerebrotendinous xanthomatosis
    • Fujiyama J, Kuriyama M, Yoshidome H, et al. Parkinsonism in cerebrotendinous xanthomatosis. Jpn J Med 1991;30:189-192.
    • (1991) Jpn J Med , vol.30 , pp. 189-192
    • Fujiyama, J.1    Kuriyama, M.2    Yoshidome, H.3
  • 166
    • 0029932915 scopus 로고    scopus 로고
    • PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism
    • Kuwabara K, Hitoshi S, Nukina N, et al. PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism. J Neurol Sci 1996;138(1-2):145-149.
    • (1996) J Neurol Sci , vol.138 , Issue.1-2 , pp. 145-149
    • Kuwabara, K.1    Hitoshi, S.2    Nukina, N.3
  • 167
    • 84871793065 scopus 로고    scopus 로고
    • Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review
    • Rubio-Agusti I, Kojovic M, Edwards MJ, et al. Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review. Mov Disord 2012;27:1769-1774.
    • (2012) Mov Disord , vol.27 , pp. 1769-1774
    • Rubio-Agusti, I.1    Kojovic, M.2    Edwards, M.J.3
  • 168
    • 84655161937 scopus 로고    scopus 로고
    • Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis
    • Mignarri A, Falcini M, Vella A, et al. Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. Parkinsonism Relat Disord 2012;18:99-101.
    • (2012) Parkinsonism Relat Disord , vol.18 , pp. 99-101
    • Mignarri, A.1    Falcini, M.2    Vella, A.3
  • 170
    • 61449249843 scopus 로고    scopus 로고
    • Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration
    • O'Sullivan SS, Burn DJ, Holton JL, Lees AJ. Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration. Mov Disord 2008;23:2424-2426.
    • (2008) Mov Disord , vol.23 , pp. 2424-2426
    • O'Sullivan, S.S.1    Burn, D.J.2    Holton, J.L.3    Lees, A.J.4
  • 171
    • 8844253982 scopus 로고    scopus 로고
    • Enzyme-replacement therapy for metabolic storage disorders
    • Brady RO, Schiffmann R. Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol 2004;3:752-756.
    • (2004) Lancet Neurol , vol.3 , pp. 752-756
    • Brady, R.O.1    Schiffmann, R.2
  • 172
    • 0032851678 scopus 로고    scopus 로고
    • Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene
    • Mallucci GR, Campbell TA, Dickinson A, et al. Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. Brain 1999;122 (Pt 10):1823-1837.
    • (1999) Brain , vol.122 , Issue.PART 10 , pp. 1823-1837
    • Mallucci, G.R.1    Campbell, T.A.2    Dickinson, A.3
  • 173
    • 23344450122 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome and movements disorders
    • Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movements disorders. Curr Opin Neurol 2005;18:393-398.
    • (2005) Curr Opin Neurol , vol.18 , pp. 393-398
    • Baba, Y.1    Uitti, R.J.2
  • 174
    • 36749009300 scopus 로고    scopus 로고
    • Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    • Quiz 2140
    • Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-2030, quiz 2140.
    • (2007) Mov Disord , vol.22 , pp. 2018-2030
    • Berry-Kravis, E.1    Abrams, L.2    Coffey, S.M.3
  • 175
    • 84863195737 scopus 로고    scopus 로고
    • Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
    • Tassone F, Greco CM, Hunsaker MR, et al. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav 2012;11:577-585.
    • (2012) Genes Brain Behav , vol.11 , pp. 577-585
    • Tassone, F.1    Greco, C.M.2    Hunsaker, M.R.3
  • 176
    • 30344473617 scopus 로고    scopus 로고
    • Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006;129(Pt 1):243-255.
    • (2006) Brain , vol.129 , Issue.PART 1 , pp. 243-255
    • Greco, C.M.1    Berman, R.F.2    Martin, R.M.3
  • 177
    • 84871320088 scopus 로고    scopus 로고
    • FXTAS: new insights and the need for revised diagnostic criteria
    • Apartis E, Blancher A, Meissner WG, et al. FXTAS: new insights and the need for revised diagnostic criteria. Neurology 2012;79:1898-1907.
    • (2012) Neurology , vol.79 , pp. 1898-1907
    • Apartis, E.1    Blancher, A.2    Meissner, W.G.3
  • 178
    • 43049129705 scopus 로고    scopus 로고
    • A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
    • Aguilar D, Sigford KE, Soontarapornchai K, et al. A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. Am J Med Genet A 2008;146A:629-635.
    • (2008) Am J Med Genet A , vol.146 A , pp. 629-635
    • Aguilar, D.1    Sigford, K.E.2    Soontarapornchai, K.3
  • 179
    • 47849090388 scopus 로고    scopus 로고
    • Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
    • Hagerman RJ, Hall DA, Coffey S, et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging 2008;3:251-262.
    • (2008) Clin Interv Aging , vol.3 , pp. 251-262
    • Hagerman, R.J.1    Hall, D.A.2    Coffey, S.3
  • 180
    • 23444442557 scopus 로고    scopus 로고
    • The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
    • Kamm C, Healy DG, Quinn NP, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005;128(Pt 8):1855-1860.
    • (2005) Brain , vol.128 , Issue.PART 8 , pp. 1855-1860
    • Kamm, C.1    Healy, D.G.2    Quinn, N.P.3
  • 181
    • 0035353759 scopus 로고    scopus 로고
    • Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA)
    • Burk K, Skalej M, Dichgans J. Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA). Mov Disord 2001;16:535.
    • (2001) Mov Disord , vol.16 , pp. 535
    • Burk, K.1    Skalej, M.2    Dichgans, J.3
  • 182
    • 79955410753 scopus 로고    scopus 로고
    • A hot cross bun sign from diffusion tensor imaging and tractography perspective
    • Loh KB, Rahmat K, Lim SY, Ramli N. A hot cross bun sign from diffusion tensor imaging and tractography perspective. Neurol India 2011;59:266-269.
    • (2011) Neurol India , vol.59 , pp. 266-269
    • Loh, K.B.1    Rahmat, K.2    Lim, S.Y.3    Ramli, N.4
  • 183
    • 72149105869 scopus 로고    scopus 로고
    • Hot cross bun sign in a patient with SCA-2
    • Marrannes J, Mulleners E. Hot cross bun sign in a patient with SCA-2. JBR-BTR 2009;92:263.
    • (2009) JBR-BTR , vol.92 , pp. 263
    • Marrannes, J.1    Mulleners, E.2
  • 184
    • 67651171531 scopus 로고    scopus 로고
    • Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome
    • Healy DG, Bressman S, Dickson J, et al. Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome. Mov Disord 2009;24:1245-1247.
    • (2009) Mov Disord , vol.24 , pp. 1245-1247
    • Healy, D.G.1    Bressman, S.2    Dickson, J.3
  • 185
    • 0034807133 scopus 로고    scopus 로고
    • Hot cross bun" sign in a patient with parkinsonism secondary to presumed vasculitis
    • Muqit MM, Mort D, Miskiel KA, Shakir RA. "Hot cross bun" sign in a patient with parkinsonism secondary to presumed vasculitis. J Neurol Neurosurg Psychiatry 2001;71:565-566.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 565-566
    • Muqit, M.M.1    Mort, D.2    Miskiel, K.A.3    Shakir, R.A.4
  • 186
    • 79955391810 scopus 로고    scopus 로고
    • Hot cross bun" sign in HIV-related progressive multifocal leukoencephalopathy
    • Yadav R, Ramdas M, Karthik N, et al. "Hot cross bun" sign in HIV-related progressive multifocal leukoencephalopathy. Neurol India 2011;59:293-294.
    • (2011) Neurol India , vol.59 , pp. 293-294
    • Yadav, R.1    Ramdas, M.2    Karthik, N.3
  • 188
    • 33645736493 scopus 로고    scopus 로고
    • Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers
    • Ceravolo R, Antonini A, Volterrani D, et al. Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers. Neurology 2005;65:1971-1973.
    • (2005) Neurology , vol.65 , pp. 1971-1973
    • Ceravolo, R.1    Antonini, A.2    Volterrani, D.3
  • 189
    • 77958153723 scopus 로고    scopus 로고
    • FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients
    • Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010;16:608-611.
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 608-611
    • Hall, D.A.1    Jennings, D.2    Seibyl, J.3    Tassone, F.4    Marek, K.5
  • 190
    • 84883164047 scopus 로고    scopus 로고
    • Early abnormalities in 123I-ioflupane (DaTSCAN) imaging in the fragile X-associated tremor ataxia syndrome (FXTAS)
    • A case report. [Epub 2012 Oct 18. DOI: 10.1007/s10072-012-1223-6].
    • Madeo G, Alemseged F, Di Pietro B, Schillaci O, Pisani A. Early abnormalities in 123I-ioflupane (DaTSCAN) imaging in the fragile X-associated tremor ataxia syndrome (FXTAS): a case report. Neurol Sci (in press) [Epub 2012 Oct 18. DOI: 10.1007/s10072-012-1223-6].
    • Neurol Sci
    • Madeo, G.1    Alemseged, F.2    Di Pietro, B.3    Schillaci, O.4    Pisani, A.5
  • 191
    • 38549133867 scopus 로고    scopus 로고
    • MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome
    • Scaglione C, Ginestroni A, Vella A, et al. MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. J Neurol 2008;255:144-146.
    • (2008) J Neurol , vol.255 , pp. 144-146
    • Scaglione, C.1    Ginestroni, A.2    Vella, A.3
  • 192
    • 65849514220 scopus 로고    scopus 로고
    • SCA3: neurological features, pathogenesis and animal models
    • Riess O, Rub U, Pastore A, Bauer P, Schols L. SCA3: neurological features, pathogenesis and animal models. Cerebellum 2008;7:125-137.
    • (2008) Cerebellum , vol.7 , pp. 125-137
    • Riess, O.1    Rub, U.2    Pastore, A.3    Bauer, P.4    Schols, L.5
  • 193
    • 0033772440 scopus 로고    scopus 로고
    • Extrapyramidal motor signs in degenerative ataxias
    • Schols L, Peters S, Szymanski S, et al. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000;57:1495-1500.
    • (2000) Arch Neurol , vol.57 , pp. 1495-1500
    • Schols, L.1    Peters, S.2    Szymanski, S.3
  • 194
    • 84859006164 scopus 로고    scopus 로고
    • Spinocerebellar ataxia: a rational approach to aetiological diagnosis
    • Degardin A, Dobbelaere D, Vuillaume I, et al. Spinocerebellar ataxia: a rational approach to aetiological diagnosis. Cerebellum 2012;11:289-299.
    • (2012) Cerebellum , vol.11 , pp. 289-299
    • Degardin, A.1    Dobbelaere, D.2    Vuillaume, I.3
  • 195
    • 67449136057 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism
    • Kim JY, Kim SY, Kim JM, et al. Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. Neurology 2009;72:1385-1389.
    • (2009) Neurology , vol.72 , pp. 1385-1389
    • Kim, J.Y.1    Kim, S.Y.2    Kim, J.M.3
  • 197
    • 84892365103 scopus 로고    scopus 로고
    • Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation
    • [Epub 2013 Feb 15. DOI:10.1007/s12311-013-0458-y].
    • Takazaki KA, D'Abreu A, Nucci A, Lopes-Cendes I, França MC Jr. Dysautonomia is frequent in Machado-Joseph disease: clinical and neurophysiological evaluation. Cerebellum (in press). [Epub 2013 Feb 15. DOI:10.1007/s12311-013-0458-y].
    • Cerebellum
    • Takazaki, K.A.1    D'Abreu, A.2    Nucci, A.3    Lopes-Cendes, I.4    França Jr., M.C.5
  • 198
    • 67949101791 scopus 로고    scopus 로고
    • Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3)
    • Koyama Y, Asahina M, Honma K, Arai K, Hattori T. Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3). Cerebellum 2009;8:130-136.
    • (2009) Cerebellum , vol.8 , pp. 130-136
    • Koyama, Y.1    Asahina, M.2    Honma, K.3    Arai, K.4    Hattori, T.5
  • 199
    • 1442280313 scopus 로고    scopus 로고
    • Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism
    • Varrone A, Salvatore E, De Michele G, et al. Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism. Ann Neurol 2004;55:426-430.
    • (2004) Ann Neurol , vol.55 , pp. 426-430
    • Varrone, A.1    Salvatore, E.2    De Michele, G.3
  • 200
    • 0034043492 scopus 로고    scopus 로고
    • Decreased dopamine transporter binding in Machado-Joseph disease
    • Yen TC, Lu CS, Tzen KY, et al. Decreased dopamine transporter binding in Machado-Joseph disease. J Nucl Med 2000;41:994-998.
    • (2000) J Nucl Med , vol.41 , pp. 994-998
    • Yen, T.C.1    Lu, C.S.2    Tzen, K.Y.3
  • 201
    • 77952561333 scopus 로고    scopus 로고
    • The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6
    • Kim JM, Lee JY, Kim HJ, et al. The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6. J Neurol Neurosurg Psychiatry 2010;81:529-532.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 529-532
    • Kim, J.M.1    Lee, J.Y.2    Kim, H.J.3
  • 202
    • 0036238233 scopus 로고    scopus 로고
    • The aetiology of sporadic adult-onset ataxia
    • Abele M, Burk K, Schols L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125(Pt 5):961-968.
    • (2002) Brain , vol.125 , Issue.PART 5 , pp. 961-968
    • Abele, M.1    Burk, K.2    Schols, L.3
  • 203
    • 27744518721 scopus 로고    scopus 로고
    • Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
    • Khan NL, Giunti P, Sweeney MG, et al. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord 2005;20:1115-1119.
    • (2005) Mov Disord , vol.20 , pp. 1115-1119
    • Khan, N.L.1    Giunti, P.2    Sweeney, M.G.3
  • 204
    • 84864005111 scopus 로고    scopus 로고
    • SCA6 presenting with young-onset parkinsonism without ataxia
    • Yun JY, Kim JM, Kim HJ, Kim YE, Jeon BS. SCA6 presenting with young-onset parkinsonism without ataxia. Mov Disord 2012;27:1067-1068.
    • (2012) Mov Disord , vol.27 , pp. 1067-1068
    • Yun, J.Y.1    Kim, J.M.2    Kim, H.J.3    Kim, Y.E.4    Jeon, B.S.5
  • 206
    • 79954989631 scopus 로고    scopus 로고
    • Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
    • Mehta AR, Fox SH, Tarnopolsky M, Yoon G. Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. Mov Disord 2011;26:753-755.
    • (2011) Mov Disord , vol.26 , pp. 753-755
    • Mehta, A.R.1    Fox, S.H.2    Tarnopolsky, M.3    Yoon, G.4
  • 207
    • 58849122658 scopus 로고    scopus 로고
    • Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study
    • Bensimon G, Ludolph A, Agid Y, Vidailhet M, Payan C, Leigh PN. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS study. Brain 2009;132(Pt 1):156-171.
    • (2009) Brain , vol.132 , Issue.PART 1 , pp. 156-171
    • Bensimon, G.1    Ludolph, A.2    Agid, Y.3    Vidailhet, M.4    Payan, C.5    Leigh, P.N.6
  • 208
    • 78349241725 scopus 로고    scopus 로고
    • Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry
    • Kollensperger M, Geser F, Ndayisaba JP, et al. Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry. Mov Disord 2010;25:2604-2612.
    • (2010) Mov Disord , vol.25 , pp. 2604-2612
    • Kollensperger, M.1    Geser, F.2    Ndayisaba, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.