메뉴 건너뛰기




Volumn 383, Issue 9919, 2014, Pages 828-840

Genetics of dementia

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; ENVIRONMENTAL FACTOR; FAMILY; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HIGH RISK PATIENT; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RISK FACTOR;

EID: 84896707237     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(13)60630-3     Document Type: Review
Times cited : (259)

References (144)
  • 1
    • 0031839545 scopus 로고    scopus 로고
    • Risk estimates of dementia by apolipoprotein e genotypes from a population-based incidence study: The Rotterdam Study
    • Slooter AJ, Cruts M, Kalmijn S, et al. Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study. Arch Neurol 1998; 55: 964-68.
    • (1998) Arch Neurol , vol.55 , pp. 964-968
    • Slooter, A.J.1    Cruts, M.2    Kalmijn, S.3
  • 3
    • 0015431711 scopus 로고
    • Genetic studies in relation of kuru. I. Cultural, historical, and demographic background
    • Gadjusek DC, Alpers M. Genetic studies in relation of kuru. I. Cultural, historical, and demographic background. Am J Hum Genet 1972; 24: S1-S38.
    • (1972) Am J Hum Genet , vol.24
    • Gadjusek, D.C.1    Alpers, M.2
  • 4
    • 24944561852 scopus 로고    scopus 로고
    • Genetic linkage studies
    • Teare DM, Barrett JH. Genetic linkage studies. Lancet 2005; 366: 1036-44.
    • (2005) Lancet , vol.366 , pp. 1036-1044
    • Teare, D.M.1    Barrett, J.H.2
  • 5
    • 84896711834 scopus 로고    scopus 로고
    • HGMIS, accessed April 26, 2012
    • HGMIS. Genetic disease information-pronto! http://www.ornl.gov/sci/ techresources/Human-Genome/medicine/assist.shtml (accessed April 26, 2012).
    • Genetic Disease Information-pronto!
  • 6
    • 58149387637 scopus 로고    scopus 로고
    • How to use an article about genetic association: A: Background concepts
    • Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association: A: background concepts. JAMA 2009; 301: 74-81.
    • (2009) JAMA , vol.301 , pp. 74-81
    • Attia, J.1    Ioannidis, J.P.2    Thakkinstian, A.3
  • 7
    • 65949099120 scopus 로고    scopus 로고
    • Genetic risk prediction-are we there yet?
    • Kraft P, Hunter DJ. Genetic risk prediction-are we there yet? N Engl J Med 2009; 360: 1701-03.
    • (2009) N Engl J Med , vol.360 , pp. 1701-1703
    • Kraft, P.1    Hunter, D.J.2
  • 8
    • 72949116790 scopus 로고    scopus 로고
    • Systematic review: Family history in risk assessment for common diseases
    • Wilson BJ, Qureshi N, Santaguida P, et al. Systematic review: family history in risk assessment for common diseases. Ann Intern Med 2009; 151: 878-85.
    • (2009) Ann Intern Med , vol.151 , pp. 878-885
    • Wilson, B.J.1    Qureshi, N.2    Santaguida, P.3
  • 9
    • 0031749155 scopus 로고    scopus 로고
    • Retrospective diagnosis of dementia using an informant interview based on the brief cognitive rating scale
    • Rockwood K, Howard K, Thomas VS, et al. Retrospective diagnosis of dementia using an informant interview based on the brief cognitive rating scale. Int Psychogeriatr 1998; 10: 53-60.
    • (1998) Int Psychogeriatr , vol.10 , pp. 53-60
    • Rockwood, K.1    Howard, K.2    Thomas, V.S.3
  • 10
    • 0029075243 scopus 로고
    • Frontotemporal dementia and Alzheimer's disease: Retrospective differentiation using information from informants
    • Barber R, Snowden JS, Craufurd D. Frontotemporal dementia and Alzheimer's disease: retrospective differentiation using information from informants. J Neurol Neurosurg Psychiatry 1995; 59: 61-70.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 61-70
    • Barber, R.1    Snowden, J.S.2    Craufurd, D.3
  • 11
    • 64149128171 scopus 로고    scopus 로고
    • Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: Clinicopathological series and review of cases
    • Velakoulis D, Walterfang M, Mocellin R, Pantelis C, McLean C. Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases. Br J Psychiatry 2009; 194: 298-305.
    • (2009) Br J Psychiatry , vol.194 , pp. 298-305
    • Velakoulis, D.1    Walterfang, M.2    Mocellin, R.3    Pantelis, C.4    McLean, C.5
  • 12
    • 84865529158 scopus 로고    scopus 로고
    • Clinical and biomarker changes in dominantly inherited Alzheimer's disease
    • Bateman RJ, Xiong C, Benzinger TL, et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012; 367: 795-804.
    • (2012) N Engl J Med , vol.367 , pp. 795-804
    • Bateman, R.J.1    Xiong, C.2    Benzinger, T.L.3
  • 14
    • 84873446143 scopus 로고    scopus 로고
    • University of Washington, accessed April 26, 2012
    • University of Washington. Genetests. http://www.ncbi.nlm.nih.gov/sites/ GeneTests/?db=GeneTests (accessed April 26, 2012).
    • Genetests
  • 15
    • 16644396131 scopus 로고    scopus 로고
    • Pathological and clinical heterogeneity of presenilin 1 gene mutations
    • Menendez M. Pathological and clinical heterogeneity of presenilin 1 gene mutations. J Alzheimers Dis 2004; 6: 475-82.
    • (2004) J Alzheimers Dis , vol.6 , pp. 475-482
    • Menendez, M.1
  • 16
    • 33947540910 scopus 로고    scopus 로고
    • Knowledge of and attitudes about Alzheimer disease genetics: Report of a pilot survey and two focus groups
    • Moscarillo TJ, Holt H, Perman M, et al. Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups. Community Genet 2007; 10: 97-102.
    • (2007) Community Genet , vol.10 , pp. 97-102
    • Moscarillo, T.J.1    Holt, H.2    Perman, M.3
  • 17
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
    • McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34: 939-44.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3    Katzman, R.4    Price, D.5    Stadlan, E.M.6
  • 18
    • 79956142378 scopus 로고    scopus 로고
    • The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
    • McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7: 263-69.
    • (2011) Alzheimers Dement , vol.7 , pp. 263-269
    • McKhann, G.M.1    Knopman, D.S.2    Chertkow, H.3
  • 19
    • 77952771512 scopus 로고    scopus 로고
    • Alzheimer's Disease International, London: Alzheimer's Disease International
    • Alzheimer's Disease International. World Alzheimer report. London: Alzheimer's Disease International, 2009.
    • (2009) World Alzheimer Report
  • 20
    • 79959193198 scopus 로고    scopus 로고
    • Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
    • Goldman JS, Hahn SE, Catania JW, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 2011; 13: 597-605.
    • (2011) Genet Med , vol.13 , pp. 597-605
    • Goldman, J.S.1    Hahn, S.E.2    Catania, J.W.3
  • 21
    • 26944475934 scopus 로고    scopus 로고
    • Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: An update
    • Raux G, Guyant-Marechal L, Martin C, et al. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet 2005; 42: 793-95.
    • (2005) J Med Genet , vol.42 , pp. 793-795
    • Raux, G.1    Guyant-Marechal, L.2    Martin, C.3
  • 22
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24-26.
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3
  • 23
    • 0033358671 scopus 로고    scopus 로고
    • Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
    • Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65: 664-70.
    • (1999) Am J Hum Genet , vol.65 , pp. 664-670
    • Campion, D.1    Dumanchin, C.2    Hannequin, D.3
  • 24
    • 0037469171 scopus 로고    scopus 로고
    • Early onset familial Alzheimer's disease: Mutation frequency in 31 families
    • Janssen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer's disease: mutation frequency in 31 families. Neurology 2003; 60: 235-39.
    • (2003) Neurology , vol.60 , pp. 235-239
    • Janssen, J.C.1    Beck, J.A.2    Campbell, T.A.3
  • 25
    • 10744221940 scopus 로고    scopus 로고
    • Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland
    • Zekanowski C, Styczynska M, Peplonska B, et al. Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. Exp Neurol 2003; 184: 991-96.
    • (2003) Exp Neurol , vol.184 , pp. 991-996
    • Zekanowski, C.1    Styczynska, M.2    Peplonska, B.3
  • 26
    • 0036845601 scopus 로고    scopus 로고
    • Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain
    • Lleo A, Blesa R, Queralt R, et al. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol 2002; 59: 1759-63.
    • (2002) Arch Neurol , vol.59 , pp. 1759-1763
    • Lleo, A.1    Blesa, R.2    Queralt, R.3
  • 27
    • 34249949113 scopus 로고    scopus 로고
    • Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation
    • Kauwe JS, Jacquart S, Chakraverty S, et al. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol 2007; 61: 446-53.
    • (2007) Ann Neurol , vol.61 , pp. 446-453
    • Kauwe, J.S.1    Jacquart, S.2    Chakraverty, S.3
  • 28
    • 84856541277 scopus 로고    scopus 로고
    • Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    • Cruchaga C, Haller G, Chakraverty S, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PloS One 2012; 7: e31039.
    • (2012) PloS One , vol.7
    • Cruchaga, C.1    Haller, G.2    Chakraverty, S.3
  • 30
    • 77951694945 scopus 로고    scopus 로고
    • Correlating familial Alzheimer's disease gene mutations with clinical phenotype
    • Ryan NS, Rossor MN. Correlating familial Alzheimer's disease gene mutations with clinical phenotype. Biomark Med 2010; 4: 99-112.
    • (2010) Biomark Med , vol.4 , pp. 99-112
    • Ryan, N.S.1    Rossor, M.N.2
  • 31
    • 0023109592 scopus 로고
    • Amyloid beta protein gene: CDNA, mRNA distribution, and genetic linkage near the Alzheimer locus
    • Tanzi RE, Gusella JF, Watkins PC, et al. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987; 235: 880-84.
    • (1987) Science , vol.235 , pp. 880-884
    • Tanzi, R.E.1    Gusella, J.F.2    Watkins, P.C.3
  • 32
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349: 704-06.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3
  • 33
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995; 375: 754-60.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3
  • 34
    • 0029101491 scopus 로고
    • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    • Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995; 376: 775-78.
    • (1995) Nature , vol.376 , pp. 775-778
    • Rogaev, E.I.1    Sherrington, R.2    Rogaeva, E.A.3
  • 35
    • 0029087026 scopus 로고
    • Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    • Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995; 269: 973-77.
    • (1995) Science , vol.269 , pp. 973-977
    • Levy-Lahad, E.1    Wasco, W.2    Poorkaj, P.3
  • 37
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson T, Atwal JK, Steinberg S, et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 2012; 488: 96-99.
    • (2012) Nature , vol.488 , pp. 96-99
    • Jonsson, T.1    Atwal, J.K.2    Steinberg, S.3
  • 38
    • 67651180986 scopus 로고    scopus 로고
    • The amyloid hypothesis for Alzheimer's disease: A critical reappraisal
    • Hardy J. The amyloid hypothesis for Alzheimer's disease: a critical reappraisal. J Neurochem 2009; 110: 1129-34.
    • (2009) J Neurochem , vol.110 , pp. 1129-1134
    • Hardy, J.1
  • 39
    • 78149488153 scopus 로고    scopus 로고
    • Amyloid-independent mechanisms in Alzheimer's disease pathogenesis
    • Pimplikar SW, Nixon RA, Robakis NK, Shen J, Tsai LH. Amyloid-independent mechanisms in Alzheimer's disease pathogenesis. J Neurosci 2010; 30: 14946-54.
    • (2010) J Neurosci , vol.30 , pp. 14946-14954
    • Pimplikar, S.W.1    Nixon, R.A.2    Robakis, N.K.3    Shen, J.4    Tsai, L.H.5
  • 40
    • 38049110977 scopus 로고    scopus 로고
    • Variable phenotype of Alzheimer's disease with spastic paraparesis
    • Karlstrom H, Brooks WS, Kwok JB, et al. Variable phenotype of Alzheimer's disease with spastic paraparesis. J Neurochem 2008; 104: 573-83.
    • (2008) J Neurochem , vol.104 , pp. 573-583
    • Karlstrom, H.1    Brooks, W.S.2    Kwok, J.B.3
  • 41
    • 0033774379 scopus 로고    scopus 로고
    • Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
    • Roks G, Van Harskamp F, De Koning I, et al. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain 2000; 123: 2130-40.
    • (2000) Brain , vol.123 , pp. 2130-2140
    • Roks, G.1    Van Harskamp, F.2    De Koning, I.3
  • 42
    • 77950815769 scopus 로고    scopus 로고
    • Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    • Jayadev S, Leverenz JB, Steinbart E, et al. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 2010; 133: 1143-54.
    • (2010) Brain , vol.133 , pp. 1143-1154
    • Jayadev, S.1    Leverenz, J.B.2    Steinbart, E.3
  • 43
    • 77950529014 scopus 로고    scopus 로고
    • Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
    • Guerreiro RJ, Baquero M, Blesa R, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 2010; 31: 725-31.
    • (2010) Neurobiol Aging , vol.31 , pp. 725-731
    • Guerreiro, R.J.1    Baquero, M.2    Blesa, R.3
  • 44
    • 0242310819 scopus 로고    scopus 로고
    • Alzheimer's disease
    • King RA, Rotter JI, eds, 2nd edn. Oxford: Oxford University Press
    • Pericak-Vance MA, Haines JL. Alzheimer's disease. In: King RA, Rotter JI, eds. The genetic basis of common diseases, 2nd edn. Oxford: Oxford University Press, 2002: 818-30.
    • (2002) The Genetic Basis of Common Diseases , pp. 818-830
    • Pericak-Vance, M.A.1    Haines, J.L.2
  • 45
    • 0028889485 scopus 로고
    • American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer's Disease: Statement on use of apolipoprotein e testing for Alzheimer's disease
    • Farrer LA, Brin MF, Elsas L, et al. American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer's Disease: statement on use of apolipoprotein E testing for Alzheimer's disease. JAMA 1995; 274: 1627-29.
    • (1995) JAMA , vol.274 , pp. 1627-1629
    • Farrer, L.A.1    Brin, M.F.2    Elsas, L.3
  • 46
    • 84856145841 scopus 로고    scopus 로고
    • Genetics of dementia
    • Paulson HL, Igo I. Genetics of dementia. Semin Neurol 2011; 31: 449-60.
    • (2011) Semin Neurol , vol.31 , pp. 449-460
    • Paulson, H.L.1    Igo, I.2
  • 48
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease
    • Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med 2013; 368: 117-27.
    • (2013) N Engl J Med , vol.368 , pp. 117-127
    • Guerreiro, R.1    Wojtas, A.2    Bras, J.3
  • 49
    • 84872088087 scopus 로고    scopus 로고
    • Variant of TREM2 associated with the risk of Alzheimer's disease
    • Jonsson T, Stefansson H, Steinberg S, et al. Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med 2013; 368: 107-16.
    • (2013) N Engl J Med , vol.368 , pp. 107-116
    • Jonsson, T.1    Stefansson, H.2    Steinberg, S.3
  • 51
    • 0037116658 scopus 로고    scopus 로고
    • Risk of dementia among white and African American relatives of patients with Alzheimer disease
    • Green RC, Cupples LA, Go R, et al. Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA 2002; 287: 329-36.
    • (2002) JAMA , vol.287 , pp. 329-336
    • Green, R.C.1    Cupples, L.A.2    Go, R.3
  • 52
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
    • Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998; 51: 1546-54.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3
  • 53
    • 37349044615 scopus 로고    scopus 로고
    • Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): Current limitations and future directions
    • Rascovsky K, Hodges JR, Kipps CM, et al. Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): current limitations and future directions. Alzheimer Dis Assoc Disord 2007; 21: S14-18.
    • (2007) Alzheimer Dis Assoc Disord , vol.21
    • Rascovsky, K.1    Hodges, J.R.2    Kipps, C.M.3
  • 55
    • 84858158074 scopus 로고    scopus 로고
    • Neuroimaging in frontotemporal lobar degeneration-predicting molecular pathology
    • Whitwell JL, Josephs KA. Neuroimaging in frontotemporal lobar degeneration-predicting molecular pathology. Nat Rev Neurol 2011; 8: 131-42.
    • (2011) Nat Rev Neurol , vol.8 , pp. 131-142
    • Whitwell, J.L.1    Josephs, K.A.2
  • 56
    • 4444248435 scopus 로고    scopus 로고
    • Clinicopathological correlates in frontotemporal dementia
    • Hodges JR, Davies RR, Xuereb JH, et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol 2004; 56: 399-406.
    • (2004) Ann Neurol , vol.56 , pp. 399-406
    • Hodges, J.R.1    Davies, R.R.2    Xuereb, J.H.3
  • 57
    • 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: 542-49.
    • (2011) Curr Opin Neurol , vol.24 , pp. 542-549
    • Rohrer, J.D.1    Warren, J.D.2
  • 58
    • 37349044615 scopus 로고    scopus 로고
    • Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): Current limitations and future directions
    • Rascovsky K, Hodges JR, Kipps CM, et al. Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): current limitations and future directions. Alzheimer Dis Assoc Disord 2007; 21: S14-18.
    • (2007) Alzheimer Dis Assoc Disord , vol.21
    • Rascovsky, K.1    Hodges, J.R.2    Kipps, C.M.3
  • 59
    • 78649632831 scopus 로고    scopus 로고
    • The logopenic variant of primary progressive aphasia
    • Henry ML, Gorno-Tempini ML. The logopenic variant of primary progressive aphasia. Curr Opin Neurol 2010; 23: 633-37.
    • (2010) Curr Opin Neurol , vol.23 , pp. 633-637
    • Henry, M.L.1    Gorno-Tempini, M.L.2
  • 61
    • 77649187519 scopus 로고    scopus 로고
    • Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: An update
    • Mackenzie IR, Neumann M, Bigio EH, et al. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 2010; 119: 1-4.
    • (2010) Acta Neuropathol , vol.119 , pp. 1-4
    • Mackenzie, I.R.1    Neumann, M.2    Bigio, E.H.3
  • 62
    • 74249101783 scopus 로고    scopus 로고
    • Semantic dementia: Demography, familial factors and survival in a consecutive series of 100 cases
    • Hodges JR, Mitchell J, Dawson K, et al. Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases. Brain 2010; 133: 300-06.
    • (2010) Brain , vol.133 , pp. 300-306
    • Hodges, J.R.1    Mitchell, J.2    Dawson, K.3
  • 63
    • 77956850818 scopus 로고    scopus 로고
    • TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
    • Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 2010; 9: 995-1007.
    • (2010) Lancet Neurol , vol.9 , pp. 995-1007
    • Mackenzie, I.R.1    Rademakers, R.2    Neumann, M.3
  • 64
    • 78649846412 scopus 로고    scopus 로고
    • Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology
    • author reply e9
    • Loy CT, McCusker E, Kril JJ, et al. Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology. Brain 2010; 133: e158; author reply e9.
    • (2010) Brain , vol.133
    • Loy, C.T.1    McCusker, E.2    Kril, J.J.3
  • 66
    • 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: 736-50.
    • (2012) Brain , vol.135 , pp. 736-750
    • Mahoney, C.J.1    Beck, J.2    Rohrer, J.D.3
  • 67
    • 70449365115 scopus 로고    scopus 로고
    • The heritability and genetics of frontotemporal lobar degeneration
    • Rohrer JD, Guerreiro R, Vandrovcova J, et al. The heritability and genetics of frontotemporal lobar degeneration. Neurology 2009; 73: 1451-56.
    • (2009) Neurology , vol.73 , pp. 1451-1456
    • Rohrer, J.D.1    Guerreiro, R.2    Vandrovcova, J.3
  • 68
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-05.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 69
    • 10944241542 scopus 로고    scopus 로고
    • Tau alteration and neuronal degeneration in tauopathies: Mechanisms and models
    • Brandt R, Hundelt M, Shahani N. Tau alteration and neuronal degeneration in tauopathies: mechanisms and models. Biochim Biophys Acta 2005; 1739: 331-54.
    • (2005) Biochim Biophys Acta , vol.1739 , pp. 331-354
    • Brandt, R.1    Hundelt, M.2    Shahani, N.3
  • 70
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006; 442: 916-19.
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    Mackenzie, I.R.2    Pickering-Brown, S.M.3
  • 71
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • Cruts M, Gijselinck I, van der See J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006; 442: 920-24.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    Van Der See, J.3
  • 72
    • 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: 583-91.
    • (2009) Brain , vol.132 , pp. 583-591
    • Finch, N.1    Baker, M.2    Crook, R.3
  • 73
    • 80855130704 scopus 로고    scopus 로고
    • Potential mechanisms of progranulin-deficient FTLD
    • Ward ME, Miller BL. Potential mechanisms of progranulin-deficient FTLD. J Mol Neurosci 2011; 45: 574-82.
    • (2011) J Mol Neurosci , vol.45 , pp. 574-582
    • Ward, M.E.1    Miller, B.L.2
  • 74
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-56.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 75
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-68.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 76
    • 84866093352 scopus 로고    scopus 로고
    • C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
    • Dobson-Stone C, Hallupp M, Bartley L, et al. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 2012; 79: 995-1001.
    • (2012) Neurology , vol.79 , pp. 995-1001
    • Dobson-Stone, C.1    Hallupp, M.2    Bartley, L.3
  • 77
    • 84865071988 scopus 로고    scopus 로고
    • Evidence for an oligogenic basis of amyotrophic lateral sclerosis
    • van Blitterswijk M, van Es MA, Hennekam EA, et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012; 21: 3776-84.
    • (2012) Hum Mol Genet , vol.21 , pp. 3776-3784
    • Van Blitterswijk, M.1    Van Es, M.A.2    Hennekam, E.A.3
  • 78
    • 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: 732-46.
    • (2008) Brain , vol.131 , pp. 732-746
    • Le Ber, I.1    Camuzat, A.2    Hannequin, D.3
  • 79
    • 84857050135 scopus 로고    scopus 로고
    • Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
    • Byrne S, Elamin M, Bede P, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 2012; 11: 232-40.
    • (2012) Lancet Neurol , vol.11 , pp. 232-240
    • Byrne, S.1    Elamin, M.2    Bede, P.3
  • 80
    • 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: 323-30.
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3
  • 81
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36: 377-81.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3
  • 82
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 323: 1208-11.
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobagyi, T.3
  • 83
    • 77952111070 scopus 로고    scopus 로고
    • FUS mutations in amyotrophic lateral sclerosis: Clinical, pathological, neurophysiological and genetic analysis
    • Blair IP, Williams KL, Warraich ST, et al. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry 2010; 81: 639-45.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 639-645
    • Blair, I.P.1    Williams, K.L.2    Warraich, S.T.3
  • 84
    • 79959605078 scopus 로고    scopus 로고
    • The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene
    • Snowden JS, Hu Q, Rollinson S, et al. The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene. Acta Neuropathol 2011; 122: 99-110.
    • (2011) Acta Neuropathol , vol.122 , pp. 99-110
    • Snowden, J.S.1    Hu, Q.2    Rollinson, S.3
  • 85
    • 23044471011 scopus 로고    scopus 로고
    • Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
    • Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37: 806-08.
    • (2005) Nat Genet , vol.37 , pp. 806-808
    • Skibinski, G.1    Parkinson, N.J.2    Brown, J.M.3
  • 86
    • 27644558934 scopus 로고    scopus 로고
    • Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
    • Munch C, Rosenbohm A, Sperfeld AD, et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 2005; 58: 777-80.
    • (2005) Ann Neurol , vol.58 , pp. 777-780
    • Munch, C.1    Rosenbohm, A.2    Sperfeld, A.D.3
  • 87
    • 19944428327 scopus 로고    scopus 로고
    • Pick bodies in a family with presenilin-1 Alzheimer's disease
    • Halliday GM, Song YJ, Lepar G, et al. Pick bodies in a family with presenilin-1 Alzheimer's disease. Ann Neurol 2005; 57: 139-43.
    • (2005) Ann Neurol , vol.57 , pp. 139-143
    • Halliday, G.M.1    Song, Y.J.2    Lepar, G.3
  • 88
    • 11144357241 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
    • Dermaut B, Kumar-Singh S, Engelborghs S, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 2004; 55: 617-26.
    • (2004) Ann Neurol , vol.55 , pp. 617-626
    • Dermaut, B.1    Kumar-Singh, S.2    Engelborghs, S.3
  • 89
    • 78649998539 scopus 로고    scopus 로고
    • TARDBP mutations in frontotemporal lobar degeneration: Frequency, clinical features, and disease course
    • Borroni B, Archetti S, Del Bo R, et al. TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course. Rejuvenation Res 2010; 13: 509-17.
    • (2010) Rejuvenation Res , vol.13 , pp. 509-517
    • Borroni, B.1    Archetti, S.2    Del Bo, R.3
  • 90
    • 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: 475-83.
    • (2011) Neurology , vol.76 , pp. 475-483
    • Goldman, J.S.1    Rademakers, R.2    Huey, E.D.3
  • 91
    • 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: 488-97.
    • (2011) Arch Neurol , vol.68 , pp. 488-497
    • Chen-Plotkin, A.S.1    Martinez-Lage, M.2    Sleiman, P.M.3
  • 92
    • 34548633862 scopus 로고    scopus 로고
    • Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477CaT (Arg493X) mutation: An international initiative
    • Rademakers R, Baker M, Gass J, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477CaT (Arg493X) mutation: an international initiative. Lancet Neurol 2007; 6: 857-68.
    • (2007) Lancet Neurol , vol.6 , pp. 857-868
    • Rademakers, R.1    Baker, M.2    Gass, J.3
  • 93
    • 84863393065 scopus 로고    scopus 로고
    • Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    • Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012; 135: 693-708.
    • (2012) Brain , vol.135 , pp. 693-708
    • Snowden, J.S.1    Rollinson, S.2    Thompson, J.C.3
  • 94
    • 79953814616 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
    • Pearson JP, Williams NM, Majounie E, et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 2011; 258: 647-55.
    • (2011) J Neurol , vol.258 , pp. 647-655
    • Pearson, J.P.1    Williams, N.M.2    Majounie, E.3
  • 95
    • 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: 794-806.
    • (2012) Brain , vol.135 , pp. 794-806
    • Whitwell, J.L.1    Weigand, S.D.2    Boeve, B.F.3
  • 96
    • 82355180826 scopus 로고    scopus 로고
    • P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    • Al-Sarraj S, King A, Troakes C, et al. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 2011; 122: 691-702.
    • (2011) Acta Neuropathol , vol.122 , pp. 691-702
    • Al-Sarraj, S.1    King, A.2    Troakes, C.3
  • 97
    • 34548178260 scopus 로고    scopus 로고
    • Neuropsychological deficits in frontotemporal dementia and Alzheimer's disease: A meta-analytic review
    • Hutchinson AD, Mathias JL. Neuropsychological deficits in frontotemporal dementia and Alzheimer's disease: a meta-analytic review. J Neurol Neurosurg Psychiatry 2007; 78: 917-28.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 917-928
    • Hutchinson, A.D.1    Mathias, J.L.2
  • 98
    • 0031800415 scopus 로고    scopus 로고
    • Familial aggregation in frontotemporal dementia
    • Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology 1998; 50: 1541-45.
    • (1998) Neurology , vol.50 , pp. 1541-1545
    • Stevens, M.1    Van Duijn, C.M.2    Kamphorst, W.3
  • 99
    • 0347915581 scopus 로고    scopus 로고
    • Transmissible spongiform encephalopathies
    • Collins SJ, Lawson VA, Masters CL. Transmissible spongiform encephalopathies. Lancet 2004; 363: 51-61.
    • (2004) Lancet , vol.363 , pp. 51-61
    • Collins, S.J.1    Lawson, V.A.2    Masters, C.L.3
  • 100
    • 33645147707 scopus 로고    scopus 로고
    • Prion disease genetics
    • Mead S. Prion disease genetics. Eur J Hum Genet 2006; 14: 273-81.
    • (2006) Eur J Hum Genet , vol.14 , pp. 273-281
    • Mead, S.1
  • 101
    • 34547590133 scopus 로고    scopus 로고
    • Amyloid imaging in distinguishing atypical prion disease from Alzheimer disease
    • Boxer AL, Rabinovici GD, Kepe V, et al. Amyloid imaging in distinguishing atypical prion disease from Alzheimer disease. Neurology 2007; 69: 283-90.
    • (2007) Neurology , vol.69 , pp. 283-290
    • Boxer, A.L.1    Rabinovici, G.D.2    Kepe, V.3
  • 102
    • 79955397626 scopus 로고    scopus 로고
    • Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
    • Jayadev S, Nochlin D, Poorkaj P, et al. Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol 2011; 69: 712-20.
    • (2011) Ann Neurol , vol.69 , pp. 712-720
    • Jayadev, S.1    Nochlin, D.2    Poorkaj, P.3
  • 103
    • 7744222617 scopus 로고    scopus 로고
    • The natural history of Alzheimer disease: A longitudinal presymptomatic and symptomatic study of a familial cohort
    • Godbolt AK, Cipolotti L, Watt H, Fox NC, Janssen JC, Rossor MN. The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort. Arch Neurol 2004; 61: 1743-48.
    • (2004) Arch Neurol , vol.61 , pp. 1743-1748
    • Godbolt, A.K.1    Cipolotti, L.2    Watt, H.3    Fox, N.C.4    Janssen, J.C.5    Rossor, M.N.6
  • 104
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • Walker FO. Huntington's disease. Lancet 2007; 369: 218-28.
    • (2007) Lancet , vol.369 , pp. 218-228
    • Walker, F.O.1
  • 105
    • 48249114740 scopus 로고    scopus 로고
    • Detection of Huntington's disease decades before diagnosis: The Predict-HD study
    • Paulsen JS, Langbehn DR, Stout JC, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry 2008; 79: 874-80.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 874-880
    • Paulsen, J.S.1    Langbehn, D.R.2    Stout, J.C.3
  • 106
    • 0031785792 scopus 로고    scopus 로고
    • Levodopa responsive parkinsonism in an adult with Huntington's disease
    • Racette BA, Perlmutter JS. Levodopa responsive parkinsonism in an adult with Huntington's disease. J Neurol Neurosurg Psychiatry 1998; 65: 577-79.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 577-579
    • Racette, B.A.1    Perlmutter, J.S.2
  • 107
    • 0037819516 scopus 로고    scopus 로고
    • Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    • Stevanin G, Fujigasaki H, Lebre AS, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003; 126: 1599-603.
    • (2003) Brain , vol.126 , pp. 1599-1603
    • Stevanin, G.1    Fujigasaki, H.2    Lebre, A.S.3
  • 108
    • 34548505265 scopus 로고    scopus 로고
    • The Huntington's disease-like syndromes: What to consider in patients with a negative Huntington's disease gene test
    • Schneider SA, Walker RH, Bhatia KP. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol 2007; 3: 517-25.
    • (2007) Nat Clin Pract Neurol , vol.3 , pp. 517-525
    • Schneider, S.A.1    Walker, R.H.2    Bhatia, K.P.3
  • 109
    • 77955636420 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
    • Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010; 9: 885-94.
    • (2010) Lancet Neurol , vol.9 , pp. 885-894
    • Durr, A.1
  • 110
    • 84857132924 scopus 로고    scopus 로고
    • The autosomal recessive cerebellar ataxias
    • Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012; 366: 636-46.
    • (2012) N Engl J Med , vol.366 , pp. 636-646
    • Anheim, M.1    Tranchant, C.2    Koenig, M.3
  • 111
    • 0037105960 scopus 로고    scopus 로고
    • Cognitive findings in spinocerebellar ataxia type 2: Genetic and clinical variables
    • Le Pira F, Zappala G, Saponara R, et al. Cognitive findings in spinocerebellar ataxia type 2: genetic and clinical variables. J Neurol Sci 2002; 201: 53-57.
    • (2002) J Neurol Sci , vol.201 , pp. 53-57
    • Le Pira, F.1    Zappala, G.2    Saponara, R.3
  • 113
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
    • Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999; 8: 2047-53.
    • (1999) Hum Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3
  • 114
    • 0032427148 scopus 로고    scopus 로고
    • Dentatorubral-pallidsoluysian atrophy or Naito-Oyanagi disease
    • Kanazawa I. Dentatorubral-pallidsoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 1998; 2: 1-17.
    • (1998) Neurogenetics , vol.2 , pp. 1-17
    • Kanazawa, I.1
  • 115
    • 0036765131 scopus 로고    scopus 로고
    • Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson's disease
    • Seniow J, Bak T, Gajda J, Poniatowska R, Czlonkowska A. Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson's disease. Mov Disord 2002; 17: 1077-83.
    • (2002) Mov Disord , vol.17 , pp. 1077-1083
    • Seniow, J.1    Bak, T.2    Gajda, J.3    Poniatowska, R.4    Czlonkowska, A.5
  • 116
    • 80052679496 scopus 로고    scopus 로고
    • Clinical molecular diagnosis of Wilson disease
    • Bennett J, Hahn SH. Clinical molecular diagnosis of Wilson disease. Semin Liver Dis 2011; 31: 233-38.
    • (2011) Semin Liver Dis , vol.31 , pp. 233-238
    • Bennett, J.1    Hahn, S.H.2
  • 118
    • 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: 120-33.
    • (2007) Brain , vol.130 , pp. 120-133
    • Sevin, M.1    Lesca, G.2    Baumann, N.3
  • 119
    • 79956286125 scopus 로고    scopus 로고
    • New agents and approaches to treatment in Niemann-Pick type C disease
    • Perez-Poyato MS, Pineda M. New agents and approaches to treatment in Niemann-Pick type C disease. Curr Pharm Biotechnol 2011; 12: 897-901.
    • (2011) Curr Pharm Biotechnol , vol.12 , pp. 897-901
    • Perez-Poyato, M.S.1    Pineda, M.2
  • 122
    • 77950273952 scopus 로고    scopus 로고
    • Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: Study in 200 consecutively recruited individuals
    • Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke 2010; 41: 630-34.
    • (2010) Stroke , vol.41 , pp. 630-634
    • Adib-Samii, P.1    Brice, G.2    Martin, R.J.3    Markus, H.S.4
  • 123
    • 17644376503 scopus 로고    scopus 로고
    • The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland
    • Razvi SSM, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 2005; 76: 739-41.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 739-741
    • Razvi, S.S.M.1    Davidson, R.2    Bone, I.3    Muir, K.W.4
  • 124
    • 84865707720 scopus 로고    scopus 로고
    • Complex single gene disorders and epilepsy
    • Merwick A, O'Brien M, Delanty N. Complex single gene disorders and epilepsy. Epilepsia 2012; 53 (suppl 4): 81-91.
    • (2012) Epilepsia , vol.53 , Issue.SUPPL. 4 , pp. 81-91
    • Merwick, A.1    O'brien, M.2    Delanty, N.3
  • 125
    • 80051672679 scopus 로고    scopus 로고
    • Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
    • Noskova L, Stranecky V, Hartmannova H, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011; 89: 241-52.
    • (2011) Am J Hum Genet , vol.89 , pp. 241-252
    • Noskova, L.1    Stranecky, V.2    Hartmannova, H.3
  • 126
    • 0026005970 scopus 로고
    • Single-gene neurological disorders in South Wales: An epidemiological study
    • MacMillan JC, Harper PS. Single-gene neurological disorders in South Wales: an epidemiological study. Ann Neurol 1991; 30: 411-14.
    • (1991) Ann Neurol , vol.30 , pp. 411-414
    • Macmillan, J.C.1    Harper, P.S.2
  • 127
    • 49649093693 scopus 로고    scopus 로고
    • Recent advances in the genetics of dementia with lewy bodies
    • Bonifati V. Recent advances in the genetics of dementia with lewy bodies. Curr Neurol Neurosci Rep 2008; 8: 187-89.
    • (2008) Curr Neurol Neurosci Rep , vol.8 , pp. 187-189
    • Bonifati, V.1
  • 128
    • 78651306090 scopus 로고    scopus 로고
    • Familial aggregation of dementia with Lewy bodies
    • Nervi A, Reitz C, Tang M-X, et al. Familial aggregation of dementia with Lewy bodies. Arch Neurol 2011; 68: 90-93.
    • (2011) Arch Neurol , vol.68 , pp. 90-93
    • Nervi, A.1    Reitz, C.2    Tang, M.-X.3
  • 130
    • 80051552956 scopus 로고    scopus 로고
    • Dementia in Parkinson's disease: A 20-year neuropsychological study (Sydney Multicentre Study)
    • Reid WG, Hely MA, Morris JG, Loy C, Halliday GM. Dementia in Parkinson's disease: a 20-year neuropsychological study (Sydney Multicentre Study). J Neurol Neurosurg Psychiatry 2011; 82: 1033-37.
    • (2011) J Neurol Neurosurg Psychiatry , vol.82 , pp. 1033-1037
    • Reid, W.G.1    Hely, M.A.2    Morris, J.G.3    Loy, C.4    Halliday, G.M.5
  • 131
    • 34047223232 scopus 로고    scopus 로고
    • DLB and PDD boundary issues: Diagnosis, treatment, molecular pathology, and biomarkers
    • Lippa CF, Duda JE, Grossman M, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology 2007; 68: 812-19.
    • (2007) Neurology , vol.68 , pp. 812-819
    • Lippa, C.F.1    Duda, J.E.2    Grossman, M.3
  • 133
    • 33748304674 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
    • Goker-Alpan O, Giasson BI, Eblan MJ, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006; 67: 908-10.
    • (2006) Neurology , vol.67 , pp. 908-910
    • Goker-Alpan, O.1    Giasson, B.I.2    Eblan, M.J.3
  • 135
    • 85030415276 scopus 로고    scopus 로고
    • Alzheimer's Society. accessed Feb 21, 2013
    • Alzheimer's Society. Support with Familial Alzheimer's disease. http://forum.alzheimers.org.uk/showthread.php?42880-Supportwith-Familial- Alzheimers-disease (accessed Feb 21, 2013).
    • Support with Familial Alzheimer's Disease
  • 136
    • 85030405993 scopus 로고    scopus 로고
    • Alzheimer's Association, accessed Feb 21, 2013
    • Alzheimer's Association. The Search for Alzheimer's Causes and Risk Factors. http://www.alz.org/research/science/alzheimers-disease-causes.asp (accessed Feb 21, 2013).
    • The Search for Alzheimer's Causes and Risk Factors
  • 137
    • 0028470671 scopus 로고
    • Guidelines for the molecular genetics predictive test in Huntington's disease
    • International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea
    • International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31: 555-59.
    • (1994) J Med Genet , vol.31 , pp. 555-559
  • 138
    • 84863393105 scopus 로고    scopus 로고
    • The Columbia-suicide severity rating scale: Initial validity and internal consistency findings from three multisite studies with adolescents and adults
    • Posner K, Brown GK, Stanley B, et al. The Columbia-suicide severity rating scale: initial validity and internal consistency findings from three multisite studies with adolescents and adults. Am J Psychiatry 2011; 168: 1266-77.
    • (2011) Am J Psychiatry , vol.168 , pp. 1266-1277
    • Posner, K.1    Brown, G.K.2    Stanley, B.3
  • 139
    • 84858333545 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis (PGD) for Huntington's disease: The experience of three European centres
    • Van Rij MC, De Rademaeker M, Moutou C, et al. Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet 2012; 20: 368-75.
    • (2012) Eur J Hum Genet , vol.20 , pp. 368-375
    • Van Rij, M.C.1    De Rademaeker, M.2    Moutou, C.3
  • 140
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for mendelian disease gene discovery
    • Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for mendelian disease gene discovery. Nature Rev Genet 2011; 12: 745-55.
    • (2011) Nature Rev Genet , vol.12 , pp. 745-755
    • Bamshad, M.J.1    Ng, S.B.2    Bigham, A.W.3
  • 141
    • 84858335381 scopus 로고    scopus 로고
    • Exome sequencing reveals an unexpected genetic cause of disease: Notch3 mutation in a Turkish family with Alzheimer's disease
    • Guerreiro RJ, Lohmann E, Kinsella E, et al. Exome sequencing reveals an unexpected genetic cause of disease: Notch3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging 2012; 33: 1008 e17-23.
    • (2012) Neurobiol Aging , vol.33
    • Guerreiro, R.J.1    Lohmann, E.2    Kinsella, E.3
  • 142
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68: 857-64.
    • (2010) Neuron , vol.68 , pp. 857-864
    • Johnson, J.O.1    Mandrioli, J.2    Benatar, M.3
  • 143
    • 79953286746 scopus 로고    scopus 로고
    • Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
    • Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011; 69: 464-70.
    • (2011) Ann Neurol , vol.69 , pp. 464-470
    • Montenegro, G.1    Powell, E.2    Huang, J.3
  • 144
    • 77950507176 scopus 로고    scopus 로고
    • Individual genomes on the horizon
    • Lifton RP. Individual genomes on the horizon. N Engl J Med 2010; 362: 1235-36.
    • (2010) N Engl J Med , vol.362 , pp. 1235-1236
    • Lifton, R.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.