메뉴 건너뛰기




Volumn 159 B, Issue 6, 2012, Pages 628-643

Genetics of dementia: Update and guidelines for the clinician

Author keywords

Alzheimer's disease; Early onset; Frontotemporal dementia; Genetic counseling; Genetic testing

Indexed keywords

ALGORITHM; ALZHEIMER DISEASE; APP GENE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; C9ORF72 GENE; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DIFFUSE LEWY BODY DISEASE; DISEASE ASSOCIATION; FAMILIAL DISEASE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; GRN GENE; HUMAN; HUNTINGTON CHOREA; MAPT GENE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MULTIINFARCT DEMENTIA; PARKINSON DISEASE; PENETRANCE; PHENOTYPIC VARIATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PSEN1 GENE; PSEN2 GENE; RELATIVE; REVIEW; X CHROMOSOME LINKAGE;

EID: 84864929806     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32080     Document Type: Review
Times cited : (37)

References (184)
  • 2
    • 84875903983 scopus 로고    scopus 로고
    • Alzheimer Disease & Frontotemporal Dementia Mutation Database. (1-1-2012). Ref Type: Online Source.
    • Alzheimer Disease & Frontotemporal Dementia Mutation Database. (1-1-2012). Ref Type: Online Source. http://www.molgen.vib-ua.be/ADMutations/
  • 3
    • 79952730699 scopus 로고    scopus 로고
    • 2011 Alzheimer's disease facts and figures
    • Alzheimer's Association.
    • Alzheimer's Association. 2011. 2011 Alzheimer's disease facts and figures. Alzheimers Dement 7: 208-244.
    • (2011) Alzheimers Dement , vol.7 , pp. 208-244
  • 4
    • 84875910683 scopus 로고    scopus 로고
    • Alzheimer's Disease International. (21-9-2010). World Alzheimer Report 2010. The Global Economic Impact of Dementia. Wimo, A. and Prince, M. Alzheimer's Disease International (ADI). Ref Type: Report.
    • Alzheimer's Disease International. (21-9-2010). World Alzheimer Report 2010. The Global Economic Impact of Dementia. Wimo, A. and Prince, M. Alzheimer's Disease International (ADI). Ref Type: Report.
  • 11
    • 79956365897 scopus 로고    scopus 로고
    • Cerebral amyloid angiopathy: A systematic review
    • Biffi A, Greenberg SM. 2011. Cerebral amyloid angiopathy: A systematic review. J Clin Neurol 7: 1-9.
    • (2011) J Clin Neurol , vol.7 , pp. 1-9
    • Biffi, A.1    Greenberg, S.M.2
  • 12
    • 64849093178 scopus 로고    scopus 로고
    • Progranulin plasma levels in the diagnosis of frontotemporal dementia
    • Bird TD. 2009. Progranulin plasma levels in the diagnosis of frontotemporal dementia. Brain 132: 568-569.
    • (2009) Brain , vol.132 , pp. 568-569
    • Bird, T.D.1
  • 17
    • 0025995623 scopus 로고
    • Clinical genetics and genetic counseling in Alzheimer disease
    • Breitner JC. 1991. Clinical genetics and genetic counseling in Alzheimer disease. Ann Intern Med 115: 601-606.
    • (1991) Ann Intern Med , vol.115 , pp. 601-606
    • Breitner, J.C.1
  • 23
    • 80052924149 scopus 로고    scopus 로고
    • Motor neuron dysfunction in frontotemporal dementia
    • Burrell JR, Kiernan MC, Vucic S, Hodges JR. 2011. Motor neuron dysfunction in frontotemporal dementia. Brain 134: 2582-2594.
    • (2011) Brain , vol.134 , pp. 2582-2594
    • Burrell, J.R.1    Kiernan, M.C.2    Vucic, S.3    Hodges, J.R.4
  • 26
  • 27
    • 0028145428 scopus 로고
    • The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation
    • Chapman J, Ben-Israel J, Goldhammer Y, Korczyn AD. 1994. The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. Neurology 44: 1683-1686.
    • (1994) Neurology , vol.44 , pp. 1683-1686
    • Chapman, J.1    Ben-Israel, J.2    Goldhammer, Y.3    Korczyn, A.D.4
  • 38
    • 0033970929 scopus 로고    scopus 로고
    • Familial aggregation of Alzheimer disease among whites, African Americans, and Caribbean Hispanics in northern Manhattan
    • Devi G, Ottman R, Tang MX, Marder K, Stern Y, Mayeux R. 2000. Familial aggregation of Alzheimer disease among whites, African Americans, and Caribbean Hispanics in northern Manhattan. Arch Neurol 57: 72-77.
    • (2000) Arch Neurol , vol.57 , pp. 72-77
    • Devi, G.1    Ottman, R.2    Tang, M.X.3    Marder, K.4    Stern, Y.5    Mayeux, R.6
  • 40
    • 0034925303 scopus 로고    scopus 로고
    • Genetic epidemiology of Creutzfeldt-Jakob disease in Europe
    • EUROCJD.
    • EUROCJD. 2001. Genetic epidemiology of Creutzfeldt-Jakob disease in Europe. Rev Neurol (Paris) 157: 633-637.
    • (2001) Rev Neurol (Paris) , vol.157 , pp. 633-637
  • 41
    • 0035072923 scopus 로고    scopus 로고
    • Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations
    • Fabre SF, Forsell C, Viitanen M, Sjogren M, Wallin A, Blennow K, Blomberg M, Andersen C, Wahlund LO, Lannfelt L. 2001. Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations. Exp Neurol 168: 413-418.
    • (2001) Exp Neurol , vol.168 , pp. 413-418
    • Fabre, S.F.1    Forsell, C.2    Viitanen, M.3    Sjogren, M.4    Wallin, A.5    Blennow, K.6    Blomberg, M.7    Andersen, C.8    Wahlund, L.O.9    Lannfelt, L.10
  • 42
    • 80855130688 scopus 로고    scopus 로고
    • Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia
    • Fecto F, Siddique T. 2011. Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia. J Mol Neurosci 45: 663-675.
    • (2011) J Mol Neurosci , vol.45 , pp. 663-675
    • Fecto, F.1    Siddique, T.2
  • 48
    • 54449085260 scopus 로고    scopus 로고
    • Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
    • Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G. 2008. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71: 1235-1239.
    • (2008) Neurology , vol.71 , pp. 1235-1239
    • Ghidoni, R.1    Benussi, L.2    Glionna, M.3    Franzoni, M.4    Binetti, G.5
  • 56
    • 0034982951 scopus 로고    scopus 로고
    • Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy
    • Grabowski TJ, Cho HS, Vonsattel JP, Rebeck GW, Greenberg SM. 2001. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol 49: 697-705.
    • (2001) Ann Neurol , vol.49 , pp. 697-705
    • Grabowski, T.J.1    Cho, H.S.2    Vonsattel, J.P.3    Rebeck, G.W.4    Greenberg, S.M.5
  • 60
    • 0026597063 scopus 로고
    • Alzheimer's disease: The amyloid cascade hypothesis
    • Hardy JA, Higgins GA. 1992. Alzheimer's disease: The amyloid cascade hypothesis. Science 256: 184-185.
    • (1992) Science , vol.256 , pp. 184-185
    • Hardy, J.A.1    Higgins, G.A.2
  • 61
    • 0037135111 scopus 로고    scopus 로고
    • The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics
    • Hardy J, Selkoe DJ. 2002. The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297: 353-356.
    • (2002) Science , vol.297 , pp. 353-356
    • Hardy, J.1    Selkoe, D.J.2
  • 64
    • 56149092961 scopus 로고    scopus 로고
    • Survival in Alzheimer disease: A multiethnic, population-based study of incident cases
    • Helzner EP, Scarmeas N, Cosentino S, Tang MX, Schupf N, Stern Y. 2008. Survival in Alzheimer disease: A multiethnic, population-based study of incident cases. Neurology 71: 1489-1495.
    • (2008) Neurology , vol.71 , pp. 1489-1495
    • Helzner, E.P.1    Scarmeas, N.2    Cosentino, S.3    Tang, M.X.4    Schupf, N.5    Stern, Y.6
  • 67
    • 0034971707 scopus 로고    scopus 로고
    • Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms
    • Hutton M. 2001. Missense and splice site mutations in tau associated with FTDP-17: Multiple pathogenic mechanisms. Neurology 56: S21-S25.
    • (2001) Neurology , vol.56
    • Hutton, M.1
  • 69
    • 68749086164 scopus 로고    scopus 로고
    • Prevalence and causes of early-onset dementia in Japan: A population-based study
    • Ikejima C, Yasuno F, Mizukami K, Sasaki M, Tanimukai S, Asada T. 2009. Prevalence and causes of early-onset dementia in Japan: A population-based study. Stroke 40: 2709-2714.
    • (2009) Stroke , vol.40 , pp. 2709-2714
    • Ikejima, C.1    Yasuno, F.2    Mizukami, K.3    Sasaki, M.4    Tanimukai, S.5    Asada, T.6
  • 73
    • 77950815769 scopus 로고    scopus 로고
    • Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    • Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD. 2010. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 133: 1143-1154.
    • (2010) Brain , vol.133 , pp. 1143-1154
    • Jayadev, S.1    Leverenz, J.B.2    Steinbart, E.3    Stahl, J.4    Klunk, W.5    Yu, C.E.6    Bird, T.D.7
  • 88
    • 32844465332 scopus 로고    scopus 로고
    • Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
    • Larner AJ, Doran M. 2006. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J Neurol 253: 139-158.
    • (2006) J Neurol , vol.253 , pp. 139-158
    • Larner, A.J.1    Doran, M.2
  • 89
    • 33845984883 scopus 로고    scopus 로고
    • The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease
    • Larner AJ, Ray PS, Doran M. 2007. The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease. J Neurol Sci 252: 173-176.
    • (2007) J Neurol Sci , vol.252 , pp. 173-176
    • Larner, A.J.1    Ray, P.S.2    Doran, M.3
  • 92
    • 80054061066 scopus 로고    scopus 로고
    • Subtypes of progressive aphasia: Application of the international consensus criteria and validation using {beta}-amyloid imaging
    • Leyton C, Villemagne V, Savage S, Pike K, Ballard K, Piguet O, Burrell J, Rowe C, Hodges J. 2011. Subtypes of progressive aphasia: Application of the international consensus criteria and validation using {beta}-amyloid imaging. Brain 134: 3030-3043.
    • (2011) Brain , vol.134 , pp. 3030-3043
    • Leyton, C.1    Villemagne, V.2    Savage, S.3    Pike, K.4    Ballard, K.5    Piguet, O.6    Burrell, J.7    Rowe, C.8    Hodges, J.9
  • 95
    • 0036845601 scopus 로고    scopus 로고
    • Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onsheimer disease in Spain
    • Lleo A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Pena-Casanova J, Rojo A, Oliva R. 2002. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol 59: 1759-1763.
    • (2002) Arch Neurol , vol.59 , pp. 1759-1763
    • Lleo, A.1    Blesa, R.2    Queralt, R.3    Ezquerra, M.4    Molinuevo, J.L.5    Pena-Casanova, J.6    Rojo, A.7    Oliva, R.8
  • 100
    • 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. 1984. 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 34: 939-944.
    • (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
  • 101
    • 0034764622 scopus 로고    scopus 로고
    • Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
    • McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ. 2001. Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58: 1803-1809.
    • (2001) Arch Neurol , vol.58 , pp. 1803-1809
    • McKhann, G.M.1    Albert, M.S.2    Grossman, M.3    Miller, B.4    Dickson, D.5    Trojanowski, J.Q.6
  • 106
    • 33747878592 scopus 로고    scopus 로고
    • Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations
    • Mendez MF, McMurtray A. 2006. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen 21: 281-286.
    • (2006) Am J Alzheimers Dis Other Demen , vol.21 , pp. 281-286
    • Mendez, M.F.1    McMurtray, A.2
  • 107
    • 16644396131 scopus 로고    scopus 로고
    • Pathological and clinical heterogeneity of presenilin 1 gene mutations
    • Menendez M. 2004. Pathological and clinical heterogeneity of presenilin 1 gene mutations. J Alzheimers Dis 6: 475-482.
    • (2004) J Alzheimers Dis , vol.6 , pp. 475-482
    • Menendez, M.1
  • 108
    • 56149118607 scopus 로고    scopus 로고
    • Incidence of early-onset dementias in Cambridgeshire, United Kingdom
    • Mercy L, Hodges JR, Dawson K, Barker RA, Brayne C. 2008. Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology 71: 1496-1499.
    • (2008) Neurology , vol.71 , pp. 1496-1499
    • Mercy, L.1    Hodges, J.R.2    Dawson, K.3    Barker, R.A.4    Brayne, C.5
  • 112
    • 0026907151 scopus 로고
    • A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid
    • Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L. 1992. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet 1: 345-347.
    • (1992) Nat Genet , vol.1 , pp. 345-347
    • Mullan, M.1    Crawford, F.2    Axelman, K.3    Houlden, H.4    Lilius, L.5    Winblad, B.6    Lannfelt, L.7
  • 120
    • 1542716772 scopus 로고    scopus 로고
    • Diagnostic strategies in CADASIL
    • Oberstein SA. 2003. Diagnostic strategies in CADASIL. Neurology 60: 2020.
    • (2003) Neurology , vol.60 , pp. 2020
    • Oberstein, S.A.1
  • 123
    • 0035134195 scopus 로고    scopus 로고
    • Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene
    • Pastor P, Pastor E, Carnero C, Vela R, Garcia T, Amer G, Tolosa E, Oliva R. 2001. Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 49: 263-267.
    • (2001) Ann Neurol , vol.49 , pp. 263-267
    • Pastor, P.1    Pastor, E.2    Carnero, C.3    Vela, R.4    Garcia, T.5    Amer, G.6    Tolosa, E.7    Oliva, R.8
  • 124
    • 22844446634 scopus 로고    scopus 로고
    • Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies
    • Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. 2005. Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies. Arch Neurol 62: 1091-1094.
    • (2005) Arch Neurol , vol.62 , pp. 1091-1094
    • Peters, N.1    Opherk, C.2    Bergmann, T.3    Castro, M.4    Herzog, J.5    Dichgans, M.6
  • 125
    • 39749187585 scopus 로고    scopus 로고
    • Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations
    • Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AMT, Neary D, Snowden JS, Mann DMA. 2008. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations. Brain 131: 721-731.
    • (2008) Brain , vol.131 , pp. 721-731
    • Pickering-Brown, S.M.1    Rollinson, S.2    Du Plessis, D.3    Morrison, K.E.4    Varma, A.5    Richardson, A.M.T.6    Neary, D.7    Snowden, J.S.8    Mann, D.M.A.9
  • 126
    • 78751579187 scopus 로고    scopus 로고
    • Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management
    • Piguet O, Hornberger M, Mioshi E, Hodges JR. 2011. Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management. Lancet Neurol 10: 162-172.
    • (2011) Lancet Neurol , vol.10 , pp. 162-172
    • Piguet, O.1    Hornberger, M.2    Mioshi, E.3    Hodges, J.R.4
  • 127
    • 78149488153 scopus 로고    scopus 로고
    • Amyloid-independent mechanisms in Alzheimer's disease pathogenesis
    • Pimplikar SW, Nixon RA, Robakis NK, Shen J, Tsai LH. 2010. Amyloid-independent mechanisms in Alzheimer's disease pathogenesis. J Neurosci 30: 14946-14954.
    • (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
  • 130
    • 80855131539 scopus 로고    scopus 로고
    • Genetic counseling for frontotemporal dementias
    • Quaid K. 2011. Genetic counseling for frontotemporal dementias. J Mol Neurosci 45: 706-709.
    • (2011) J Mol Neurosci , vol.45 , pp. 706-709
    • Quaid, K.1
  • 139
    • 68149131822 scopus 로고    scopus 로고
    • A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing
    • Riedijk SR, Niermeijer MFN, Dooijes D, Tibben A. 2009. A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing. J Genet Couns 18: 350-356.
    • (2009) J Genet Couns , vol.18 , pp. 350-356
    • Riedijk, S.R.1    Niermeijer, M.F.N.2    Dooijes, D.3    Tibben, A.4
  • 142
    • 28444468433 scopus 로고    scopus 로고
    • Genetic risk assessment for adult children of people with Alzheimer's disease: The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study
    • Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Green RC. 2005. Genetic risk assessment for adult children of people with Alzheimer's disease: The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study. J Geriatr Psychiatry Neurol 18: 250-255.
    • (2005) J Geriatr Psychiatry Neurol , vol.18 , pp. 250-255
    • Roberts, J.S.1    Cupples, L.A.2    Relkin, N.R.3    Whitehouse, P.J.4    Green, R.C.5
  • 157
    • 38349173569 scopus 로고    scopus 로고
    • Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion
    • Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, Haass C. 2008. Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem 283: 1744-1753.
    • (2008) J Biol Chem , vol.283 , pp. 1744-1753
    • Shankaran, S.S.1    Capell, A.2    Hruscha, A.T.3    Fellerer, K.4    Neumann, M.5    Schmid, B.6    Haass, C.7
  • 162
    • 56349119351 scopus 로고    scopus 로고
    • Linking Abeta and tau in late-onsheimer's disease: A dual pathway hypothesis
    • Small SA, Duff K. 2008. Linking Abeta and tau in late-onset Alzheimer's disease: A dual pathway hypothesis. Neuron 60: 534-542.
    • (2008) Neuron , vol.60 , pp. 534-542
    • Small, S.A.1    Duff, K.2
  • 166
    • 0034762725 scopus 로고    scopus 로고
    • Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia
    • Steinbart EJ, Smith CO, Poorkaj P, Bird TD. 2001. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol 58: 1828-1831.
    • (2001) Arch Neurol , vol.58 , pp. 1828-1831
    • Steinbart, E.J.1    Smith, C.O.2    Poorkaj, P.3    Bird, T.D.4
  • 171
    • 57649221135 scopus 로고    scopus 로고
    • Amyloid precursor protein trafficking, processing, and function
    • Thinakaran G, Koo EH. 2008. Amyloid precursor protein trafficking, processing, and function. J Biol Chem 283: 29615-29619.
    • (2008) J Biol Chem , vol.283 , pp. 29615-29619
    • Thinakaran, G.1    Koo, E.H.2
  • 178
    • 33847194237 scopus 로고    scopus 로고
    • Hereditary frontotemporal dementia caused by Tau gene mutations
    • Van Swieten J, Spillantini MG. 2007. Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17: 63-73.
    • (2007) Brain Pathol , vol.17 , pp. 63-73
    • Van Swieten, J.1    Spillantini, M.G.2
  • 180
    • 69949112773 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review
    • Wardle M, Morris HR, Robertson NP. 2009. Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. Mov Disord 24: 1636-1640.
    • (2009) Mov Disord , vol.24 , pp. 1636-1640
    • Wardle, M.1    Morris, H.R.2    Robertson, N.P.3
  • 181
    • 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, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. 2004. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36: 377-381.
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3    Mehta, S.G.4    Mumm, S.5    Darvish, D.6    Pestronk, A.7    Whyte, M.P.8    Kimonis, V.E.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.