메뉴 건너뛰기




Volumn 12, Issue 3, 2016, Pages 175-185

Parkinsonism, movement disorders and genetics in frontotemporal dementia

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; PROGRANULIN; PROTEIN CHMP2B; RNA BINDING PROTEIN; TAR DNA BINDING PROTEIN; TAU PROTEIN; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

EID: 84959337230     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2016.14     Document Type: Review
Times cited : (100)

References (157)
  • 1
    • 56149118607 scopus 로고    scopus 로고
    • Incidence of early-onset dementias in cambridgeshire United Kingdom
    • Mercy L., Hodges J. R., Dawson K., Barker R. A., & Brayne C. Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology 71, 1496-1499 (2008
    • (2008) Neurology , vol.71 , pp. 1496-1499
    • Mercy, L.1    Hodges, J.R.2    Dawson, K.3    Barker, R.A.4    Brayne, C.5
  • 2
    • 84887844492 scopus 로고    scopus 로고
    • Frontotemporal dementia
    • Perry D. C., & Miller B. L. Frontotemporal dementia. Semin. Neurol. 33, 336-341 (2013
    • (2013) Semin. Neurol , vol.33 , pp. 336-341
    • Perry, D.C.1    Miller, B.L.2
  • 3
    • 84865839732 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: Epidemiology, pathology, diagnosis and management
    • Seltman R. E., & Matthews B. R. Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management. CNS Drugs 26, 841-870 (2012
    • (2012) CNS Drugs , vol.26 , pp. 841-870
    • Seltman, R.E.1    Matthews, B.R.2
  • 4
    • 84890544979 scopus 로고    scopus 로고
    • Deciphering logopenic primary progressive aphasia: A clinical, imaging and biomarker investigation
    • Teichmann M., et al. Deciphering logopenic primary progressive aphasia: a clinical, imaging and biomarker investigation. Brain 136, 3474-3488 (2013
    • (2013) Brain , vol.136 , pp. 3474-3488
    • Teichmann, M.1
  • 5
    • 80855131515 scopus 로고    scopus 로고
    • Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism
    • Fujioka S., & Wszolek Z. K. Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism. J. Mol. Neurosci. 45, 359-365 (2011
    • (2011) J. Mol. Neurosci , vol.45 , pp. 359-365
    • Fujioka, S.1    Wszolek, Z.K.2
  • 6
    • 84906314231 scopus 로고    scopus 로고
    • Parkinsonian syndrome in familial frontotemporal dementia
    • Siuda J., Fujioka S., & Wszolek Z. K. Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat. Disord. 20, 957-964 (2014
    • (2014) Parkinsonism Relat. Disord , vol.20 , pp. 957-964
    • Siuda, J.1    Fujioka, S.2    Wszolek, Z.K.3
  • 7
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
    • Neary D., et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51, 1546-1554 (1998
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1
  • 8
    • 80052938441 scopus 로고    scopus 로고
    • Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
    • Rascovsky K., et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134, 2456-2477 (2011
    • (2011) Brain , vol.134 , pp. 2456-2477
    • Rascovsky, K.1
  • 9
    • 0028223015 scopus 로고
    • Clinical and neuropathological criteria for frontotemporal dementia
    • The Lund and Manchester groups
    • The Lund and Manchester groups. Clinical and neuropathological criteria for frontotemporal dementia. J. Neurol. Neurosurg. Psychiatry 57, 416-418 (1994
    • (1994) J. Neurol. Neurosurg. Psychiatry , vol.57 , pp. 416-418
  • 10
    • 34547137360 scopus 로고    scopus 로고
    • Extrapyramidal signs, primitive reflexes and incontinence in fronto-temporal dementia
    • Diehl-Schmid J., et al. Extrapyramidal signs, primitive reflexes and incontinence in fronto-temporal dementia. Eur. J. Neurol. 14, 860-864 (2007
    • (2007) Eur. J. Neurol , vol.14 , pp. 860-864
    • Diehl-Schmid, J.1
  • 11
    • 34447536213 scopus 로고    scopus 로고
    • Extrapyramidal symptoms in frontotemporal dementia: Prevalence and clinical correlations
    • Padovani A., Agosti C., Premi E., Bellelli G., & Borroni B. Extrapyramidal symptoms in frontotemporal dementia: prevalence and clinical correlations. Neurosci. Lett. 422, 39-42 (2007
    • (2007) Neurosci. Lett , vol.422 , pp. 39-42
    • Padovani, A.1    Agosti, C.2    Premi, E.3    Bellelli, G.4    Borroni, B.5
  • 12
    • 77954362718 scopus 로고    scopus 로고
    • Does corticobasal degeneration exist? A clinicopathological re evaluation
    • Ling H., et al. Does corticobasal degeneration exist? A clinicopathological re evaluation. Brain 133, 2045-2057 (2010
    • (2010) Brain , vol.133 , pp. 2045-2057
    • Ling, H.1
  • 13
    • 84883559967 scopus 로고    scopus 로고
    • Atypical' atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy - A diagnostic guide
    • Stamelou M., Quinn N. P., & Bhatia K. P. 'Atypical' atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy - a diagnostic guide. Mov. Disord. 28, 1184-1199 (2013
    • (2013) Mov. Disord , vol.28 , pp. 1184-1199
    • Stamelou, M.1    Quinn, N.P.2    Bhatia, K.P.3
  • 14
    • 84918581460 scopus 로고    scopus 로고
    • The phenotypic spectrum of progressive supranuclear palsy: A retrospective multicenter study of 100 definite cases
    • Respondek G., et al. The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases. Mov. Disord. 29, 1758-1766 (2014
    • (2014) Mov. Disord , vol.29 , pp. 1758-1766
    • Respondek, G.1
  • 15
    • 84873639356 scopus 로고    scopus 로고
    • Criteria for the diagnosis of corticobasal degeneration
    • Armstrong M. J., et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 80, 496-503 (2013
    • (2013) Neurology , vol.80 , pp. 496-503
    • Armstrong, M.J.1
  • 16
    • 84857997213 scopus 로고    scopus 로고
    • Diagnostic criteria for corticobasal syndrome: A comparative study
    • Mathew R., Bak T. H., & Hodges J. R. Diagnostic criteria for corticobasal syndrome: a comparative study. J. Neurol. Neurosurg. Psychiatry 83, 405-410 (2012
    • (2012) J. Neurol. Neurosurg. Psychiatry , vol.83 , pp. 405-410
    • Mathew, R.1    Bak, T.H.2    Hodges, J.R.3
  • 18
    • 20444436764 scopus 로고    scopus 로고
    • Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
    • Williams D. R., et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 128, 1247-1258 (2005
    • (2005) Brain , vol.128 , pp. 1247-1258
    • Williams, D.R.1
  • 19
    • 0030977392 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
    • Foster N. L., et al. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann. Neurol. 41, 706-715 (1997
    • (1997) Ann. Neurol , vol.41 , pp. 706-715
    • Foster, N.L.1
  • 20
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5 splice-site mutations in tau with the inherited dementia FTDP 17
    • Hutton M., et al. Association of missense and 5 splice-site mutations in tau with the inherited dementia FTDP 17. Nature 393, 702-705 (1998
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1
  • 21
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919 (2006
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1
  • 22
    • 60049091402 scopus 로고    scopus 로고
    • Tauopathies with parkinsonism: Clinical spectrum, neuropathologic basis, biological markers, and treatment options
    • Ludolph A. C., et al. Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur. J. Neurol. 16, 297-309 (2009
    • (2009) Eur. J. Neurol , vol.16 , pp. 297-309
    • Ludolph, A.C.1
  • 23
    • 76149123541 scopus 로고    scopus 로고
    • The spectrum of mutations in progranulin: A collaborative study screening 545 cases of neurodegeneration
    • Yu C. E., et al. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch. Neurol. 67, 161-170 (2010
    • (2010) Arch. Neurol , vol.67 , pp. 161-170
    • Yu, C.E.1
  • 24
    • 51449089054 scopus 로고    scopus 로고
    • Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    • van Swieten J. C., & Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol. 7, 965-974 (2008
    • (2008) Lancet Neurol , vol.7 , pp. 965-974
    • Van Swieten, J.C.1    Heutink, P.2
  • 25
    • 42249085980 scopus 로고    scopus 로고
    • Refining frontotemporal dementia with parkinsonism linked to chromosome 17: Introducing FTDP 17 (MAPT) and FTDP 17 (PGRN
    • Boeve B. F., & Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP 17 (MAPT) and FTDP 17 (PGRN). Arch. Neurol. 65, 460-464 (2008
    • (2008) Arch. Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 26
    • 70449365115 scopus 로고    scopus 로고
    • The heritability and genetics of frontotemporal lobar degeneration
    • Rohrer J. D., et al. The heritability and genetics of frontotemporal lobar degeneration. Neurology 73, 1451-1456 (2009
    • (2009) Neurology , vol.73 , pp. 1451-1456
    • Rohrer, J.D.1
  • 27
    • 0034624917 scopus 로고    scopus 로고
    • Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene
    • Arima K., et al. Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 54, 1787-1795 (2000
    • (2000) Neurology , vol.54 , pp. 1787-1795
    • Arima, K.1
  • 28
    • 0033546987 scopus 로고    scopus 로고
    • A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration
    • Yasuda M., et al. A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. Neurology 53, 864-868 (1999
    • (1999) Neurology , vol.53 , pp. 864-868
    • Yasuda, M.1
  • 29
    • 0036205905 scopus 로고    scopus 로고
    • Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
    • Pickering-Brown S. M., et al. Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain 125, 732-751 (2002
    • (2002) Brain , vol.125 , pp. 732-751
    • Pickering-Brown, S.M.1
  • 30
    • 42549148803 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17 in a young Australian patient with the G389R Tau mutation
    • Bermingham N., Cowie T. F., Paine M., Storey E., & McLean C. Frontotemporal dementia and parkinsonism linked to chromosome 17 in a young Australian patient with the G389R Tau mutation. Neuropathol. Appl. Neurobiol. 34, 366-370 (2008
    • (2008) Neuropathol. Appl. Neurobiol , vol.34 , pp. 366-370
    • Bermingham, N.1    Cowie, T.F.2    Paine, M.3    Storey, E.4    McLean, C.5
  • 31
    • 52449099214 scopus 로고    scopus 로고
    • The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
    • Rossi G., et al. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Mov. Disord. 23, 892-895 (2008
    • (2008) Mov. Disord , vol.23 , pp. 892-895
    • Rossi, G.1
  • 32
    • 84945194766 scopus 로고    scopus 로고
    • A novel tau mutation in exon 12, p.Q336H, causes hereditary pick disease
    • Tacik P., et al. A novel tau mutation in exon 12, p.Q336H, causes hereditary pick disease. J. Neuropathol. Exp. Neurol. 74, 1042-1052 (2015
    • (2015) J. Neuropathol. Exp. Neurol , vol.74 , pp. 1042-1052
    • Tacik, P.1
  • 33
    • 84937818139 scopus 로고    scopus 로고
    • A novel tau mutation p.K317N, causes globular glial tauopathy
    • Tacik P., et al. A novel tau mutation p.K317N, causes globular glial tauopathy. Acta Neuropathol. 130, 199-214 (2015
    • (2015) Acta Neuropathol , vol.130 , pp. 199-214
    • Tacik, P.1
  • 34
    • 84892682478 scopus 로고    scopus 로고
    • Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R
    • Chaunu M. P., et al. Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R. J. Alzheimers Dis. 37, 769-776 (2013
    • (2013) J. Alzheimers Dis , vol.37 , pp. 769-776
    • Chaunu, M.P.1
  • 35
    • 0038796582 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family
    • Lossos A., et al. Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. J. Neurol. 250, 733-740 (2003
    • (2003) J. Neurol , vol.250 , pp. 733-740
    • Lossos, A.1
  • 36
    • 0032724611 scopus 로고    scopus 로고
    • FTDP 17: An early phenotype with parkinsonism and epileptic seizures caused by a novel mutation
    • Sperfeld A. D., et al. FTDP 17: an early phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann. Neurol. 46, 708-715 (1999
    • (1999) Ann. Neurol , vol.46 , pp. 708-715
    • Sperfeld, A.D.1
  • 37
    • 0038147249 scopus 로고    scopus 로고
    • Phenotypic presentation of frontotemporal dementia with parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin
    • Werber E., Klein C., Grünfeld J., & Rabey J. M. Phenotypic presentation of frontotemporal dementia with parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin. Mov. Disord. 18, 595-598 (2003
    • (2003) Mov. Disord , vol.18 , pp. 595-598
    • Werber, E.1    Klein, C.2    Grünfeld, J.3    Rabey, J.M.4
  • 38
    • 20144386619 scopus 로고    scopus 로고
    • Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation
    • Boeve B. F., et al. Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 128, 752-772 (2005
    • (2005) Brain , vol.128 , pp. 752-772
    • Boeve, B.F.1
  • 39
    • 38349113827 scopus 로고    scopus 로고
    • The tau S305S mutation causes frontotemporal dementia with parkinsonism
    • Skoglund L., et al. The tau S305S mutation causes frontotemporal dementia with parkinsonism. Eur. J. Neurol. 15, 156-161 (2008
    • (2008) Eur. J. Neurol , vol.15 , pp. 156-161
    • Skoglund, L.1
  • 40
    • 0027948959 scopus 로고
    • Clinical characteristics of a family with chromosome 17 linked disinhibition-dementia- parkinsonism-amyotrophy complex
    • Lynch T., et al. Clinical characteristics of a family with chromosome 17 linked disinhibition-dementia- parkinsonism-amyotrophy complex. Neurology 44, 1878-1884 (1994
    • (1994) Neurology , vol.44 , pp. 1878-1884
    • Lynch, T.1
  • 41
    • 79953301545 scopus 로고    scopus 로고
    • Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome
    • Rohrer J. D., et al. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener. Dis. 8, 149-152 (2011
    • (2011) Neurodegener. Dis , vol.8 , pp. 149-152
    • Rohrer, J.D.1
  • 42
    • 84871512745 scopus 로고    scopus 로고
    • Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS
    • Ogaki K., et al. Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat. Disord. 19, 15-20 (2013
    • (2013) Parkinsonism Relat. Disord , vol.19 , pp. 15-20
    • Ogaki, K.1
  • 43
    • 37549052418 scopus 로고    scopus 로고
    • The tauopathy associated with mutation +3 in intron 10 of tau: Characterization of the MSTD family
    • Spina S., et al. The tauopathy associated with mutation +3 in intron 10 of tau: characterization of the MSTD family. Brain 131, 72-89 (2008
    • (2008) Brain , vol.131 , pp. 72-89
    • Spina, S.1
  • 44
    • 34347359543 scopus 로고    scopus 로고
    • Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
    • Baba Y., et al. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J. Neural Transm. (Vienna) 114, 947-950 (2007
    • (2007) J. Neural Transm. (Vienna , vol.114 , pp. 947-950
    • Baba, Y.1
  • 45
    • 84896813856 scopus 로고    scopus 로고
    • Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration
    • Kouri N., et al. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol. 127, 271-282 (2014
    • (2014) Acta Neuropathol , vol.127 , pp. 271-282
    • Kouri, N.1
  • 46
    • 62349102691 scopus 로고    scopus 로고
    • Prominent phenotypic variability associated with mutations in progranulin
    • Kelly B. J., et al. Prominent phenotypic variability associated with mutations in progranulin. Neurobiol. Aging 30, 739-751 (2009
    • (2009) Neurobiol. Aging , vol.30 , pp. 739-751
    • Kelly, B.J.1
  • 47
    • 39749135522 scopus 로고    scopus 로고
    • Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study
    • Le Ber I., et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 131, 732-746 (2008
    • (2008) Brain , vol.131 , pp. 732-746
    • Le Ber, I.1
  • 48
    • 34447098752 scopus 로고    scopus 로고
    • Clinicopathologic correlation in PGRN mutations
    • Davion S., et al. Clinicopathologic correlation in PGRN mutations. Neurology 69, 1113-1121 (2007
    • (2007) Neurology , vol.69 , pp. 1113-1121
    • Davion, S.1
  • 49
    • 33750576830 scopus 로고    scopus 로고
    • Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
    • Masellis M., et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 129, 3115-3123 (2006
    • (2006) Brain , vol.129 , pp. 3115-3123
    • Masellis, M.1
  • 50
    • 33846794448 scopus 로고    scopus 로고
    • Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations
    • Josephs K. A., et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. J. Neuropathol. Exp. Neurol. 66, 142-151 (2007
    • (2007) J. Neuropathol. Exp. Neurol , vol.66 , pp. 142-151
    • Josephs, K.A.1
  • 51
    • 34948898536 scopus 로고    scopus 로고
    • Corticobasal syndrome associated with the A9D progranulin mutation
    • Spina S., et al. Corticobasal syndrome associated with the A9D progranulin mutation. J. Neuropathol. Exp. Neurol. 66, 892-900 (2007
    • (2007) J. Neuropathol. Exp. Neurol , vol.66 , pp. 892-900
    • Spina, S.1
  • 52
    • 38949174973 scopus 로고    scopus 로고
    • A novel deletion in progranulin gene is associated with FTDP 17 and CBS
    • Benussi L., et al. A novel deletion in progranulin gene is associated with FTDP 17 and CBS. Neurobiol. Aging 29, 427-435 (2008
    • (2008) Neurobiol. Aging , vol.29 , pp. 427-435
    • Benussi, L.1
  • 53
    • 60949099072 scopus 로고    scopus 로고
    • Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
    • Benussi L., et al. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol. Dis. 33, 379-385 (2009
    • (2009) Neurobiol. Dis , vol.33 , pp. 379-385
    • Benussi, L.1
  • 54
    • 79955728557 scopus 로고    scopus 로고
    • Ftld-tdp with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: Broadening the clinical phenotype of tdp 43 proteinopathies a report of three cases
    • Rusina R., et al. FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP 43 proteinopathies. A report of three cases. BMC Neurol. 11, 50 (2011
    • (2011) BMC Neurol , vol.11 , pp. 50
    • Rusina, R.1
  • 55
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21 linked ALS-FTD
    • Renton A. E., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21 linked ALS-FTD. Neuron 72, 257-268 (2011
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1
  • 56
    • 84863229493 scopus 로고    scopus 로고
    • Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
    • Khan B. K., et al. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J. Neurol. Neurosurg. Psychiatry 83, 358-364 (2012
    • (2012) J. Neurol. Neurosurg. Psychiatry , vol.83 , pp. 358-364
    • Khan, B.K.1
  • 57
    • 84874835620 scopus 로고    scopus 로고
    • Distinct clinical characteristics of c9orf72 expansion carriers compared with grn mapt and nonmutation carriers in a flanders-belgian ftld cohort
    • Van Langenhove T., et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA Neurol. 70, 365-373 (2013
    • (2013) JAMA Neurol , vol.70 , pp. 365-373
    • Van Langenhove, T.1
  • 58
    • 84863393788 scopus 로고    scopus 로고
    • Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    • Boeve B. F., et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135, 765-783 (2012
    • (2012) Brain , vol.135 , pp. 765-783
    • Boeve, B.F.1
  • 59
    • 84863999288 scopus 로고    scopus 로고
    • C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
    • O'Dowd S., et al. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Mov. Disord. 27, 1072-1074 (2012
    • (2012) Mov. Disord , vol.27 , pp. 1072-1074
    • O'Dowd, S.1
  • 60
    • 84902203309 scopus 로고    scopus 로고
    • Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72
    • Goldman J. S., et al. Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72. JAMA Neurol. 71, 771-774 (2014
    • (2014) JAMA Neurol , vol.71 , pp. 771-774
    • Goldman, J.S.1
  • 61
    • 84884486165 scopus 로고    scopus 로고
    • C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study
    • Cooper-Knock J., et al. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology 81, 808-811 (2013
    • (2013) Neurology , vol.81 , pp. 808-811
    • Cooper-Knock, J.1
  • 62
    • 84874019770 scopus 로고    scopus 로고
    • Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
    • Lindquist S. G., et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin. Genet. 83, 279-283 (2013
    • (2013) Clin. Genet , vol.83 , pp. 279-283
    • Lindquist, S.G.1
  • 63
    • 84863393065 scopus 로고    scopus 로고
    • Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    • Snowden J. S., et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135, 693-708 (2012
    • (2012) Brain , vol.135 , pp. 693-708
    • Snowden, J.S.1
  • 64
    • 84875259352 scopus 로고    scopus 로고
    • Investigation of C9orf72 repeat expansions in Parkinson's disease
    • Daoud H., et al. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiol. Aging 34, 1710.e7-1710.e9 (2013
    • (2013) Neurobiol. Aging , vol.34 , pp. 1710e7-1710e9
    • Daoud, H.1
  • 65
    • 84873429885 scopus 로고    scopus 로고
    • Parkinson disease is not associated with C9ORF72 repeat expansions
    • Harms M. B., et al. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol. Aging 34, 1519.e1-1519.e2 (2013
    • (2013) Neurobiol. Aging , vol.34 , pp. 1519e1-1519e2
    • Harms, M.B.1
  • 66
    • 84871243649 scopus 로고    scopus 로고
    • Investigation of c9orf72 in 4 neurodegenerative disorders
    • Xi Z., et al. Investigation of c9orf72 in 4 neurodegenerative disorders. Arch. Neurol. 69, 1583-1590 (2012
    • (2012) Arch. Neurol , vol.69 , pp. 1583-1590
    • Xi, Z.1
  • 67
    • 84874318643 scopus 로고    scopus 로고
    • C9orf72 repeat expansions are a rare genetic cause of parkinsonism
    • Lesage S., et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136, 385-391 (2013
    • (2013) Brain , vol.136 , pp. 385-391
    • Lesage, S.1
  • 68
    • 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., et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 11, 323-330 (2012
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1
  • 69
    • 84892998754 scopus 로고    scopus 로고
    • C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease
    • Nuytemans K., et al. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann. Hum. Genet. 77, 351-363 (2013
    • (2013) Ann. Hum. Genet , vol.77 , pp. 351-363
    • Nuytemans, K.1
  • 70
    • 84875446755 scopus 로고    scopus 로고
    • No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden
    • Akimoto C., et al. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph. Lateral Scler. Frontotemporal Degener. 14, 26-29 (2013
    • (2013) Amyotroph. Lateral Scler. Frontotemporal Degener , vol.14 , pp. 26-29
    • Akimoto, C.1
  • 71
    • 84896699287 scopus 로고    scopus 로고
    • The widening spectrum of C9ORF72-related disease; Genotype/phenotype correlations and potential modifiers of clinical phenotype
    • Cooper-Knock J., Shaw P. J., & Kirby J. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol. 127, 333-345 (2014
    • (2014) Acta Neuropathol , vol.127 , pp. 333-345
    • Cooper-Knock, J.1    Shaw, P.J.2    Kirby, J.3
  • 72
    • 84878803626 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex
    • Dombroski B. A., et al. C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex. JAMA Neurol. 70, 742-745 (2013
    • (2013) JAMA Neurol , vol.70 , pp. 742-745
    • Dombroski, B.A.1
  • 73
    • 84867334338 scopus 로고    scopus 로고
    • Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: A peculiar phenotype?
    • Floris G., et al. Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J. Neurol. 259, 1749-1751 (2012
    • (2012) J. Neurol , vol.259 , pp. 1749-1751
    • Floris, G.1
  • 74
    • 84866170104 scopus 로고    scopus 로고
    • Psychosis C9ORF72 and dementia with Lewy bodies
    • Snowden J. S., et al. Psychosis, C9ORF72 and dementia with Lewy bodies. J. Neurol. Neurosurg. Psychiatry 83, 1031-1032 (2012
    • (2012) J. Neurol. Neurosurg. Psychiatry , vol.83 , pp. 1031-1032
    • Snowden, J.S.1
  • 76
    • 84867398911 scopus 로고    scopus 로고
    • Differentiation of frontotemporal dementia from dementia with Lewy bodies using FP CIT SPECT
    • Morgan S., et al. Differentiation of frontotemporal dementia from dementia with Lewy bodies using FP CIT SPECT. J. Neurol. Neurosurg. Psychiatry 83, 1063-1070 (2012
    • (2012) J. Neurol. Neurosurg. Psychiatry , vol.83 , pp. 1063-1070
    • Morgan, S.1
  • 77
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • Johnson J. O., et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857-864 (2010
    • (2010) Neuron , vol.68 , pp. 857-864
    • Johnson, J.O.1
  • 78
    • 84872370509 scopus 로고    scopus 로고
    • Phenotypic variability in three families with valosin-containing protein mutation
    • Spina S., et al. Phenotypic variability in three families with valosin-containing protein mutation. Eur. J. Neurol. 20, 251-258 (2013
    • (2013) Eur. J. Neurol , vol.20 , pp. 251-258
    • Spina, S.1
  • 79
    • 81355146761 scopus 로고    scopus 로고
    • Mutational analysis of the VCP gene in Parkinson's disease
    • Majounie E., et al. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol. Aging 33, 209.e1-209.e2 (2012
    • (2012) Neurobiol. Aging , vol.33 , pp. 209e1-209e2
    • Majounie, E.1
  • 80
    • 0037180476 scopus 로고    scopus 로고
    • Chromosome 3 linked frontotemporal dementia (FTD 3
    • Gydesen S., et al. Chromosome 3 linked frontotemporal dementia (FTD 3). Neurology 59, 1585-1594 (2002
    • (2002) Neurology , vol.59 , pp. 1585-1594
    • Gydesen, S.1
  • 81
    • 84902291718 scopus 로고    scopus 로고
    • The role of fus gene variants in neurodegenerative diseases
    • Deng H., Gao K., & Jankovic J. The role of FUS gene variants in neurodegenerative diseases. Nat. Rev. Neurol. 10, 337-348 (2014
    • (2014) Nat. Rev. Neurol , vol.10 , pp. 337-348
    • Deng, H.1    Gao, K.2    Jankovic, J.3
  • 82
    • 79956277415 scopus 로고    scopus 로고
    • Frontotemporal dementia caused by CHMP2B mutations
    • FReJA consortium
    • Isaacs A. M., Johannsen P., Holm I., & Nielsen J. E., & FReJA consortium. Frontotemporal dementia caused by CHMP2B mutations. Curr. Alzheimer Res. 8, 246-251 (2011
    • (2011) Curr. Alzheimer Res , vol.8 , pp. 246-251
    • Isaacs, A.M.1    Johannsen, P.2    Holm, I.3    Nielsen, J.E.4
  • 83
    • 77956357112 scopus 로고    scopus 로고
    • Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
    • Yan J., et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 75, 807-814 (2010
    • (2010) Neurology , vol.75 , pp. 807-814
    • Yan, J.1
  • 84
    • 77954459337 scopus 로고    scopus 로고
    • Frequency of ubiquitin and FUS-positive TDP 43 negative frontotemporal lobar degeneration
    • Seelaar H., et al. Frequency of ubiquitin and FUS-positive, TDP 43 negative frontotemporal lobar degeneration. J. Neurol. 257, 747-753 (2010
    • (2010) J. Neurol , vol.257 , pp. 747-753
    • Seelaar, H.1
  • 85
    • 77953848935 scopus 로고    scopus 로고
    • Caudate atrophy on MRI is a characteristic feature of FTLD-FUS
    • Josephs K. A., et al. Caudate atrophy on MRI is a characteristic feature of FTLD-FUS. Eur. J. Neurol. 17, 969-975 (2010
    • (2010) Eur. J. Neurol , vol.17 , pp. 969-975
    • Josephs, K.A.1
  • 86
    • 84861860140 scopus 로고    scopus 로고
    • Wide phenotypic spectrum of the TARDBP gene: Homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject
    • Mosca L., et al. Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. Neurobiol. Aging 33, 1846.e1-1846.e4 (2012
    • (2012) Neurobiol. Aging , vol.33 , pp. 1846e1-1846e4
    • Mosca, L.1
  • 87
    • 80052726999 scopus 로고    scopus 로고
    • Broadening the phenotype of TARDBP mutations: The TARDBP Ala 382Thr mutation and Parkinson's disease in Sardinia
    • Quadri M., et al. Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics 12, 203-209 (2011
    • (2011) Neurogenetics , vol.12 , pp. 203-209
    • Quadri, M.1
  • 88
    • 84874279387 scopus 로고    scopus 로고
    • Tardbp mutations in Parkinson's disease
    • Rayaprolu S., et al. TARDBP mutations in Parkinson's disease. Parkinsonism Relat. Disord. 19, 312-315 (2013
    • (2013) Parkinsonism Relat. Disord , vol.19 , pp. 312-315
    • Rayaprolu, S.1
  • 89
    • 82955235712 scopus 로고    scopus 로고
    • Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation
    • Fujita Y., Ikeda M., Yanagisawa T., Senoo Y., & Okamoto K. Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation. Neurology 77, 1427-1431 (2011
    • (2011) Neurology , vol.77 , pp. 1427-1431
    • Fujita, Y.1    Ikeda, M.2    Yanagisawa, T.3    Senoo, Y.4    Okamoto, K.5
  • 90
    • 80053633259 scopus 로고    scopus 로고
    • A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD
    • Borghero G., et al. A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD. Neurobiol. Aging 32, 2327.e1-2327.e5 (2011
    • (2011) Neurobiol. Aging , vol.32 , pp. 2327e1-2327e5
    • Borghero, G.1
  • 91
    • 79959877276 scopus 로고    scopus 로고
    • Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease
    • Espay A. J., et al. Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. J. Neurol. Neurosurg. Psychiatry 82, 751-753 (2011
    • (2011) J. Neurol. Neurosurg. Psychiatry , vol.82 , pp. 751-753
    • Espay, A.J.1
  • 92
    • 60549116330 scopus 로고    scopus 로고
    • No TARDBP mutations in a French Canadian population of patients with Parkinson disease
    • Kabashi E., et al. No TARDBP mutations in a French Canadian population of patients with Parkinson disease. Arch. Neurol. 66, 281-282 (2009
    • (2009) Arch. Neurol , vol.66 , pp. 281-282
    • Kabashi, E.1
  • 93
    • 80052636880 scopus 로고    scopus 로고
    • Mutational analysis of TARDBP in neurodegenerative diseases
    • Ticozzi N., et al. Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol. Aging 32, 2096-2099 (2011
    • (2011) Neurobiol. Aging , vol.32 , pp. 2096-2099
    • Ticozzi, N.1
  • 94
    • 14244268775 scopus 로고    scopus 로고
    • Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells 2
    • Takahashi K., Rochford C. D., & Neumann H. Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells 2. J. Exp. Med. 201, 647-657 (2005
    • (2005) J. Exp. Med , vol.201 , pp. 647-657
    • Takahashi, K.1    Rochford, C.D.2    Neumann, H.3
  • 95
    • 10744222733 scopus 로고    scopus 로고
    • Nasu-hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - Plosl): A dementia associated with bone cystic lesions from clinical to genetic and molecular aspects
    • Bianchin M. M., et al. Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Cell. Mol. Neurobiol. 24, 1-24 (2004
    • (2004) Cell. Mol. Neurobiol , vol.24 , pp. 1-24
    • Bianchin, M.M.1
  • 96
    • 84877618309 scopus 로고    scopus 로고
    • Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease
    • Giraldo M., et al. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease. Neurobiol. Aging 34, 2077.e11-2077.e18 (2013
    • (2013) Neurobiol. Aging , vol.34 , pp. 2077e11-2077e18
    • Giraldo, M.1
  • 97
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease
    • Guerreiro R., et al. TREM2 variants in Alzheimer's disease. N. Engl. J. Med. 368, 117-127 (2013
    • (2013) N. Engl. J. Med , vol.368 , pp. 117-127
    • Guerreiro, R.1
  • 98
    • 84903776641 scopus 로고    scopus 로고
    • Homozygous TREM2 mutation in a family with atypical frontotemporal dementia
    • Le Ber I., et al. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol. Aging 35, 2419.e23-2419.e25 (2014
    • (2014) Neurobiol. Aging , vol.35 , pp. 2419e23-2419e25
    • Le Ber, I.1
  • 99
    • 84872586508 scopus 로고    scopus 로고
    • Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement
    • Guerreiro R. J., et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 70, 78-84 (2013
    • (2013) JAMA Neurol , vol.70 , pp. 78-84
    • Guerreiro, R.J.1
  • 100
    • 84879113935 scopus 로고    scopus 로고
    • TREM2 in neurodegeneration: Evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    • Rayaprolu S., et al. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol. Neurodegener. 8, 19 (2013
    • (2013) Mol. Neurodegener , vol.8 , pp. 19
    • Rayaprolu, S.1
  • 101
    • 2442684337 scopus 로고    scopus 로고
    • Α internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease
    • Cairns N. J., et al. α internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease. Am. J. Pathol. 164, 2153-2161 (2004
    • (2004) Am. J. Pathol , vol.164 , pp. 2153-2161
    • Cairns, N.J.1
  • 102
    • 7044262166 scopus 로고    scopus 로고
    • Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease
    • Cairns N. J., et al. Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology 63, 1376-1384 (2004
    • (2004) Neurology , vol.63 , pp. 1376-1384
    • Cairns, N.J.1
  • 103
    • 39049138492 scopus 로고    scopus 로고
    • Clinical and pathological heterogeneity of neuronal intermediate filament inclusion disease
    • Molina-Porcel L., et al. Clinical and pathological heterogeneity of neuronal intermediate filament inclusion disease. Arch. Neurol. 65, 272-275 (2008
    • (2008) Arch. Neurol , vol.65 , pp. 272-275
    • Molina-Porcel, L.1
  • 104
    • 84899803622 scopus 로고    scopus 로고
    • PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology
    • Wong T. H., et al. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Brain 137, 1361-1373 (2014
    • (2014) Brain , vol.137 , pp. 1361-1373
    • Wong, T.H.1
  • 105
    • 44449156493 scopus 로고    scopus 로고
    • The spectrum of recurrent thoughts and behaviors in frontotemporal dementia
    • Mendez M. F., & Shapira J. S. The spectrum of recurrent thoughts and behaviors in frontotemporal dementia. CNS Spectr. 13, 202-208 (2008
    • (2008) CNS Spectr , vol.13 , pp. 202-208
    • Mendez, M.F.1    Shapira, J.S.2
  • 106
    • 0036606508 scopus 로고    scopus 로고
    • The Stereotypy Rating Inventory for frontotemporal lobar degeneration
    • Shigenobu K., et al. The Stereotypy Rating Inventory for frontotemporal lobar degeneration. Psychiatry Res. 110, 175-187 (2002
    • (2002) Psychiatry Res , vol.110 , pp. 175-187
    • Shigenobu, K.1
  • 107
    • 67651165348 scopus 로고    scopus 로고
    • The clinical spectrum of stereotypies in frontotemporal lobar degeneration
    • Mateen F. J., & Josephs K. A. The clinical spectrum of stereotypies in frontotemporal lobar degeneration. Mov. Disord. 24, 1237-1240 (2009
    • (2009) Mov. Disord , vol.24 , pp. 1237-1240
    • Mateen, F.J.1    Josephs, K.A.2
  • 108
    • 84959339758 scopus 로고    scopus 로고
    • 2nd edn Ch. 17 eds Fahn S., Jankovic J., & Hallett M.) Churchill Linvingstone
    • Jankovic J. in Principles and Practice of Movement Disorders 2nd edn Ch. 17 (eds Fahn S., Jankovic J., & Hallett M.) 380-388 (Churchill Linvingstone, 2011
    • (2011) Principles and Practice of Movement Disorders , pp. 380-388
    • Jankovic, J.1
  • 109
    • 84856955951 scopus 로고    scopus 로고
    • Stereotypies a critical appraisal and suggestion of a clinically useful definition
    • Edwards M. J., Lang A. E., & Bhatia K. P. Stereotypies: a critical appraisal and suggestion of a clinically useful definition. Mov. Disord. 27, 179-185 (2012
    • (2012) Mov. Disord , vol.27 , pp. 179-185
    • Edwards, M.J.1    Lang, A.E.2    Bhatia, K.P.3
  • 111
    • 84868209185 scopus 로고    scopus 로고
    • Stereotypic behaviors in degenerative dementias
    • Prioni S., et al. Stereotypic behaviors in degenerative dementias. J. Neurol. 259, 2452-2459 (2012
    • (2012) J. Neurol , vol.259 , pp. 2452-2459
    • Prioni, S.1
  • 112
    • 0030897664 scopus 로고    scopus 로고
    • A study of the Lund-Manchester research criteria for frontotemporal dementia: Clinical and single-photon emission CT correlations
    • Miller B. L., et al. A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology 48, 937-942 (1997
    • (1997) Neurology , vol.48 , pp. 937-942
    • Miller, B.L.1
  • 113
    • 0033910501 scopus 로고    scopus 로고
    • Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease?
    • Bozeat S., Gregory C. A., Ralph M. A., & Hodges J. R. Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease? J. Neurol. Neurosurg. Psychiatry 69, 178-186 (2000
    • (2000) J. Neurol. Neurosurg. Psychiatry , vol.69 , pp. 178-186
    • Bozeat, S.1    Gregory, C.A.2    Ralph, M.A.3    Hodges, J.R.4
  • 114
    • 0141860012 scopus 로고    scopus 로고
    • A study of stereotypic behaviours in Alzheimer's disease and frontal and temporal variant frontotemporal dementia
    • Nyatsanza S., et al. A study of stereotypic behaviours in Alzheimer's disease and frontal and temporal variant frontotemporal dementia. J. Neurol. Neurosurg. Psychiatry 74, 1398-1402 (2003
    • (2003) J. Neurol. Neurosurg. Psychiatry , vol.74 , pp. 1398-1402
    • Nyatsanza, S.1
  • 115
    • 0035086145 scopus 로고    scopus 로고
    • Distinct behavioural profiles in frontotemporal dementia and semantic dementia
    • Snowden J. S., et al. Distinct behavioural profiles in frontotemporal dementia and semantic dementia. J. Neurol. Neurosurg. Psychiatry 70, 323-332 (2001
    • (2001) J. Neurol. Neurosurg. Psychiatry , vol.70 , pp. 323-332
    • Snowden, J.S.1
  • 116
    • 1542510050 scopus 로고    scopus 로고
    • Efficacy of fluvoxamine as a treatment for behavioral symptoms in frontotemporal lobar degeneration patients
    • Ikeda M., et al. Efficacy of fluvoxamine as a treatment for behavioral symptoms in frontotemporal lobar degeneration patients. Dement. Geriatr. Cogn. Disord. 17, 117-121 (2004
    • (2004) Dement. Geriatr. Cogn. Disord , vol.17 , pp. 117-121
    • Ikeda, M.1
  • 117
    • 84865113205 scopus 로고    scopus 로고
    • Tetrabenazine treatment for stereotypies and tics associated with dementia
    • Ondo W. G. Tetrabenazine treatment for stereotypies and tics associated with dementia. J. Neuropsychiatry Clin. Neurosci. 24, 208-214 (2012
    • (2012) J. Neuropsychiatry Clin. Neurosci , vol.24 , pp. 208-214
    • Ondo, W.G.1
  • 118
    • 80054893761 scopus 로고    scopus 로고
    • Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders
    • Jankovic J., & Clarence-Smith K. Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. Expert Rev. Neurother. 11, 1509-1523 (2011
    • (2011) Expert Rev. Neurother , vol.11 , pp. 1509-1523
    • Jankovic, J.1    Clarence-Smith, K.2
  • 119
    • 77952423318 scopus 로고    scopus 로고
    • Behavioral variant of frontotemporal dementia mimicking Huntington's disease
    • Nielsen T. R., Bruhn P., Nielsen J. E., & Hjermind L. E. Behavioral variant of frontotemporal dementia mimicking Huntington's disease. Int. Psychogeriatr. 22, 674-677 (2010
    • (2010) Int. Psychogeriatr , vol.22 , pp. 674-677
    • Nielsen, T.R.1    Bruhn, P.2    Nielsen, J.E.3    Hjermind, L.E.4
  • 120
    • 70350572209 scopus 로고    scopus 로고
    • TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
    • Kovacs G. G., et al. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov. Disord. 24, 1843-1847 (2009
    • (2009) Mov. Disord , vol.24 , pp. 1843-1847
    • Kovacs, G.G.1
  • 121
    • 51449084344 scopus 로고    scopus 로고
    • Progranulin gene mutation with an unusual clinical and neuropathologic presentation
    • Wider C., et al. Progranulin gene mutation with an unusual clinical and neuropathologic presentation. Mov. Disord. 23, 1168-1173 (2008
    • (2008) Mov. Disord , vol.23 , pp. 1168-1173
    • Wider, C.1
  • 122
    • 84895768608 scopus 로고    scopus 로고
    • C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
    • Hensman Moss D. J., et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology 82, 292-299 (2014
    • (2014) Neurology , vol.82 , pp. 292-299
    • Hensman Moss, D.J.1
  • 123
    • 84873727091 scopus 로고    scopus 로고
    • Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome
    • Dejesus-Hernandez M., et al. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat. Disord. 19, 198-201 (2013
    • (2013) Parkinsonism Relat. Disord , vol.19 , pp. 198-201
    • Dejesus-Hernandez, M.1
  • 124
    • 0037334572 scopus 로고    scopus 로고
    • Myoclonus and neurodegenerative disease - What's in a name?
    • Caviness J. N. Myoclonus and neurodegenerative disease - what's in a name? Parkinsonism Relat. Disord. 9, 185-192 (2003
    • (2003) Parkinsonism Relat. Disord , vol.9 , pp. 185-192
    • Caviness, J.N.1
  • 125
    • 18444402765 scopus 로고    scopus 로고
    • A large calabrian kindred segregating frontotemporal dementia
    • Curcio S. A., et al. A large Calabrian kindred segregating frontotemporal dementia. J. Neurol. 249, 911-922 (2002
    • (2002) J. Neurol , vol.249 , pp. 911-922
    • Curcio, S.A.1
  • 126
    • 34447340657 scopus 로고    scopus 로고
    • Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation
    • Bruni A. C., et al. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology 69, 140-147 (2007
    • (2007) Neurology , vol.69 , pp. 140-147
    • Bruni, A.C.1
  • 127
    • 84878822906 scopus 로고    scopus 로고
    • Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP
    • Pail M., Matej R., Husarova I., & Rektorova I. Generalized myoclonus as a prominent symptom in a patient with FTLD-TDP. J. Neurol. 260, 1681-1683 (2013
    • (2013) J. Neurol , vol.260 , pp. 1681-1683
    • Pail, M.1    Matej, R.2    Husarova, I.3    Rektorova, I.4
  • 128
    • 0035297141 scopus 로고    scopus 로고
    • Dystonia in corticobasal degeneration
    • Vanek Z., & Jankovic J. Dystonia in corticobasal degeneration. Mov. Disord. 16, 252-257 (2001
    • (2001) Mov. Disord , vol.16 , pp. 252-257
    • Vanek, Z.1    Jankovic, J.2
  • 129
    • 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 K. P. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov. Disord. 27, 696-702 (2012
    • (2012) Mov. Disord , vol.27 , pp. 696-702
    • Stamelou, M.1    Alonso-Canovas, A.2    Bhatia, K.P.3
  • 130
    • 84864931903 scopus 로고    scopus 로고
    • Exome sequencing identifies FUS mutations as a cause of essential tremor
    • Merner N. D., et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am. J. Hum. Genet. 91, 313-319 (2012
    • (2012) Am. J. Hum. Genet , vol.91 , pp. 313-319
    • Merner, N.D.1
  • 131
    • 84872590599 scopus 로고    scopus 로고
    • F box only protein 7 gene in parkinsonian-pyramidal disease
    • Deng H., Liang H., & Jankovic J. F box only protein 7 gene in parkinsonian-pyramidal disease. JAMA Neurol. 70, 20-24 (2013
    • (2013) JAMA Neurol , vol.70 , pp. 20-24
    • Deng, H.1    Liang, H.2    Jankovic, J.3
  • 132
    • 84927114342 scopus 로고    scopus 로고
    • The impact of rare variants in FUS in essential tremor
    • Hopfner F., et al. The impact of rare variants in FUS in essential tremor. Mov. Disord. 30, 721-724 (2015
    • (2015) Mov. Disord , vol.30 , pp. 721-724
    • Hopfner, F.1
  • 133
    • 0031742412 scopus 로고    scopus 로고
    • Cerebral glucose metabolism in patients with frontotemporal dementia
    • Ishii K., et al. Cerebral glucose metabolism in patients with frontotemporal dementia. J. Nucl. Med. 39, 1875-1878 (1998
    • (1998) J. Nucl. Med , vol.39 , pp. 1875-1878
    • Ishii, K.1
  • 134
    • 15844431849 scopus 로고    scopus 로고
    • 18F-FDG PET findings in frontotemporal dementia: An SPM analysis of 29 patients
    • Jeong Y., et al. 18F-FDG PET findings in frontotemporal dementia: an SPM analysis of 29 patients. J. Nucl. Med. 46, 233-239 (2005
    • (2005) J. Nucl. Med , vol.46 , pp. 233-239
    • Jeong, Y.1
  • 135
    • 33751233233 scopus 로고    scopus 로고
    • Decline of cerebral glucose metabolism in frontotemporal dementia: A longitudinal 18F-FDG-PET-study
    • Diehl-Schmid J., et al. Decline of cerebral glucose metabolism in frontotemporal dementia: a longitudinal 18F-FDG-PET-study. Neurobiol. Aging 28, 42-50 (2007
    • (2007) Neurobiol. Aging , vol.28 , pp. 42-50
    • Diehl-Schmid, J.1
  • 136
    • 79954605057 scopus 로고    scopus 로고
    • Subcortical and deep cortical atrophy in frontotemporal lobar degeneration
    • Garibotto V., et al. Subcortical and deep cortical atrophy in frontotemporal lobar degeneration. Neurobiol. Aging 32, 875-884 (2011
    • (2011) Neurobiol. Aging , vol.32 , pp. 875-884
    • Garibotto, V.1
  • 137
    • 51649124463 scopus 로고    scopus 로고
    • Caudate nucleus volumes in frontotemporal lobar degeneration: Differential atrophy in subtypes
    • Looi J. C., et al. Caudate nucleus volumes in frontotemporal lobar degeneration: differential atrophy in subtypes. AJNR Am. J. Neuroradiol. 29, 1537-1543 (2008
    • (2008) AJNR Am. J. Neuroradiol , vol.29 , pp. 1537-1543
    • Looi, J.C.1
  • 138
    • 70349206042 scopus 로고    scopus 로고
    • Putaminal volume in frontotemporal lobar degeneration and Alzheimer disease: Differential volumes in dementia subtypes and controls
    • Looi J. C., et al. Putaminal volume in frontotemporal lobar degeneration and Alzheimer disease: differential volumes in dementia subtypes and controls. AJNR Am. J. Neuroradiol. 30, 1552-1560 (2009
    • (2009) AJNR Am. J. Neuroradiol , vol.30 , pp. 1552-1560
    • Looi, J.C.1
  • 139
    • 84874225352 scopus 로고    scopus 로고
    • Patterns of striatal degeneration in frontotemporal dementia
    • Halabi C., et al. Patterns of striatal degeneration in frontotemporal dementia. Alzheimer Dis. Assoc. Disord. 27, 74-83 (2013
    • (2013) Alzheimer Dis. Assoc. Disord , vol.27 , pp. 74-83
    • Halabi, C.1
  • 140
    • 0037188422 scopus 로고    scopus 로고
    • Striatal dopamine transporter and extrapyramidal symptoms in frontotemporal dementia
    • Rinne J. O., et al. Striatal dopamine transporter and extrapyramidal symptoms in frontotemporal dementia. Neurology 58, 1489-1493 (2002
    • (2002) Neurology , vol.58 , pp. 1489-1493
    • Rinne, J.O.1
  • 141
    • 34547216229 scopus 로고    scopus 로고
    • Evaluation of dopaminergic function in frontotemporal dementia using i FP CIT single photon emission computed tomography
    • Sedaghat F., et al. Evaluation of dopaminergic function in frontotemporal dementia using I FP CIT single photon emission computed tomography. Neurodegener. Dis. 4, 382-385 (2007
    • (2007) Neurodegener. Dis , vol.4 , pp. 382-385
    • Sedaghat, F.1
  • 142
    • 84890536503 scopus 로고    scopus 로고
    • Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism
    • Carecchio M., et al. Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism. J. Alzheimers Dis. 38, 747-752 (2014
    • (2014) J. Alzheimers Dis , vol.38 , pp. 747-752
    • Carecchio, M.1
  • 143
    • 57349172663 scopus 로고    scopus 로고
    • Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia
    • Ittner L. M., et al. Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia. Proc. Natl Acad. Sci. USA 105, 15997-16002 (2008
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 15997-16002
    • Ittner, L.M.1
  • 144
    • 0035116282 scopus 로고    scopus 로고
    • Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene
    • Pal P. K., et al. Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene). Parkinsonism Relat. Disord. 7, 81-88 (2001
    • (2001) Parkinsonism Relat. Disord , vol.7 , pp. 81-88
    • Pal, P.K.1
  • 145
    • 0021928065 scopus 로고
    • Longitudinal topography and interdigitation of corticostriatal projections in the rhesus monkey
    • Selemon L. D., & Goldman-Rakic P. S. Longitudinal topography and interdigitation of corticostriatal projections in the rhesus monkey. J. Neurosci. 5, 776-794 (1985
    • (1985) J. Neurosci , vol.5 , pp. 776-794
    • Selemon, L.D.1    Goldman-Rakic, P.S.2
  • 146
    • 0032877365 scopus 로고    scopus 로고
    • Kp1 expression of ghost pick bodies, amyloid p positive astrocytes and selective nigral degeneration in early onset picks disease
    • Kobayashi K., et al. KP1 expression of ghost Pick bodies, amyloid P positive astrocytes and selective nigral degeneration in early onset Picks disease. Clin. Neuropathol. 18, 240-249 (1999
    • (1999) Clin. Neuropathol , vol.18 , pp. 240-249
    • Kobayashi, K.1
  • 147
    • 34848899271 scopus 로고    scopus 로고
    • Binge eating is associated with right orbitofrontal-insular-striatal atrophy in frontotemporal dementia
    • Woolley J. D., et al. Binge eating is associated with right orbitofrontal-insular-striatal atrophy in frontotemporal dementia. Neurology 69, 1424-1433 (2007
    • (2007) Neurology , vol.69 , pp. 1424-1433
    • Woolley, J.D.1
  • 148
    • 53649096105 scopus 로고    scopus 로고
    • Anatomic correlates of stereotypies in frontotemporal lobar degeneration
    • Josephs K. A., Whitwell J. L., & Jack C. R. Jr. Anatomic correlates of stereotypies in frontotemporal lobar degeneration. Neurobiol. Aging. 29, 1859-1863 (2008
    • (2008) Neurobiol. Aging , vol.29 , pp. 1859-1863
    • Josephs, K.A.1    Whitwell, J.L.2    Jack, C.R.3
  • 150
    • 84881023960 scopus 로고    scopus 로고
    • Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
    • Gómez-Tortosa E., et al. Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy. Eur. J. Neurol. 20, 1319-1324 (2013
    • (2013) Eur. J. Neurol , vol.20 , pp. 1319-1324
    • Gómez-Tortosa, E.1
  • 151
    • 64849103956 scopus 로고    scopus 로고
    • Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
    • Finch N., et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 132, 583-591 (2009
    • (2009) Brain , vol.132 , pp. 583-591
    • Finch, N.1
  • 152
    • 84884975217 scopus 로고    scopus 로고
    • Genetics of frontotemporal lobar degeneration: An up date and diagnosis algorithm
    • Le Ber I. Genetics of frontotemporal lobar degeneration: an up date and diagnosis algorithm. Rev. Neurol. (Paris) 169, 811-819 (2013
    • (2013) Rev. Neurol. (Paris , vol.169 , pp. 811-819
    • Le Ber, I.1
  • 153
    • 84929676153 scopus 로고    scopus 로고
    • Cerebrospinal fluid biomarkers in familial forms of Alzheimer's disease and frontotemporal dementia
    • Rostgaard N., Waldemar G., Nielsen J. E., & Simonsen A. H. Cerebrospinal fluid biomarkers in familial forms of Alzheimer's disease and frontotemporal dementia. Dement. Geriatr. Cogn. Disord. 40, 54-62 (2015
    • (2015) Dement. Geriatr. Cogn. Disord , vol.40 , pp. 54-62
    • Rostgaard, N.1    Waldemar, G.2    Nielsen, J.E.3    Simonsen, A.H.4
  • 154
    • 84886583911 scopus 로고    scopus 로고
    • Exome sequencing in familial corticobasal degeneration
    • Fekete R., et al. Exome sequencing in familial corticobasal degeneration. Parkinsonism Relat. Disord. 19, 1049-1052 (2013
    • (2013) Parkinsonism Relat. Disord , vol.19 , pp. 1049-1052
    • Fekete, R.1
  • 156
    • 84931271049 scopus 로고    scopus 로고
    • Mapping neuroinflammation in frontotemporal dementia with molecular PET imaging
    • Zhang J. Mapping neuroinflammation in frontotemporal dementia with molecular PET imaging. J. Neuroinflamm. 12, 108 (2015
    • (2015) J. Neuroinflamm , vol.12 , pp. 108
    • Zhang, J.1
  • 157
    • 84945340060 scopus 로고    scopus 로고
    • Frontotemporal dementia
    • Bang J., Spina S., & Miller B. L. Frontotemporal dementia. Lancet 386, 1672-1682 (2015
    • (2015) Lancet , vol.386 , pp. 1672-1682
    • Bang, J.1    Spina, S.2    Miller, B.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.