메뉴 건너뛰기




Volumn 8, Issue 10, 1999, Pages 1901-1905

The genetics of disorders with synuclein pathology and parkinsonism

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; TAU PROTEIN;

EID: 0032862949     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.10.1901     Document Type: Review
Times cited : (43)

References (61)
  • 2
    • 0027517625 scopus 로고
    • Plaque-only Alzheimer disease is usually the Lewy body variant, and vice versa
    • Hansen, L.A., Masliah, E., Galasko, D. and Terry, R.D. (1993) Plaque-only Alzheimer disease is usually the Lewy body variant, and vice versa. J. Neuropathol. Exp. Neurol., 52, 648-654.
    • (1993) J. Neuropathol. Exp. Neurol. , vol.52 , pp. 648-654
    • Hansen, L.A.1    Masliah, E.2    Galasko, D.3    Terry, R.D.4
  • 3
    • 0000787934 scopus 로고    scopus 로고
    • α-Synuclein accumulation in Gerstmann-Straussler-Schenker disease (GSS) with prion protein gene (PRNP) F198S
    • Piccardo, P., Mirra, S.S., Young, K., Gearing, M., Dlouhy, S.R. and Ghetti, B. (1998) α-Synuclein accumulation in Gerstmann-Straussler-Schenker disease (GSS) with prion protein gene (PRNP) F198S. Neurobiol. Aging, 19, S724.
    • (1998) Neurobiol. Aging , vol.19
    • Piccardo, P.1    Mirra, S.S.2    Young, K.3    Gearing, M.4    Dlouhy, S.R.5    Ghetti, B.6
  • 4
    • 0006164301 scopus 로고    scopus 로고
    • Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop
    • McKeith, I.G., Galasko, D., Kosaka, K. et al. (1996) Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology, 47, 1113-1124.
    • (1996) Neurology , vol.47 , pp. 1113-1124
    • McKeith, I.G.1    Galasko, D.2    Kosaka, K.3
  • 5
    • 0031715399 scopus 로고    scopus 로고
    • Accumulation of alpha-synuclein/ NACP is a cytopathological feature common to Lewy body disease and multiple system atrophy
    • Berl.
    • Wakabayashi, K., Hayashi, S., Kakita, A., Yamada, M., Toyoshima, Y., Yoshimoto, M. and Takahashi, H. (1998) Accumulation of alpha-synuclein/ NACP is a cytopathological feature common to Lewy body disease and multiple system atrophy. Acta Neuropathol. (Berl.), 96, 445-452.
    • (1998) Acta Neuropathol. , vol.96 , pp. 445-452
    • Wakabayashi, K.1    Hayashi, S.2    Kakita, A.3    Yamada, M.4    Toyoshima, Y.5    Yoshimoto, M.6    Takahashi, H.7
  • 6
    • 0015463054 scopus 로고
    • Progressive supranuclear palsy
    • Steele, J.C. (1972) Progressive supranuclear palsy. Brain, 95, 693-704.
    • (1972) Brain , vol.95 , pp. 693-704
    • Steele, J.C.1
  • 7
    • 0013901347 scopus 로고
    • Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam. Neurological reevaluation
    • Elizan, T.S., Hirano, A., Abrams, B.M., Need, R.L., Van Nuis, C. and Kurland, L. (1966) Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam. Neurological reevaluation. Arch. Neurol., 14, 356-368.
    • (1966) Arch. Neurol. , vol.14 , pp. 356-368
    • Elizan, T.S.1    Hirano, A.2    Abrams, B.M.3    Need, R.L.4    Van Nuis, C.5    Kurland, L.6
  • 8
    • 0030977392 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
    • Conference Participants
    • Foster, N.L., Wilhelmsen, K., Sima, A.A., Jones, M.Z., D'Amato, C.J. and Gilman, S. (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann. Neurol., 41, 706-715.
    • (1997) Ann. Neurol. , vol.41 , pp. 706-715
    • Foster, N.L.1    Wilhelmsen, K.2    Sima, A.A.3    Jones, M.Z.4    D'Amato, C.J.5    Gilman, S.6
  • 11
    • 0025128071 scopus 로고
    • Twin studies and the genetics of Parkinson's disease - A reappraisal
    • Johnson, W.G., Hodge, S.E. and Duvoisin, R. (1990) Twin studies and the genetics of Parkinson's disease - a reappraisal. Mov. Disord., 5, 187-194.
    • (1990) Mov. Disord. , vol.5 , pp. 187-194
    • Johnson, W.G.1    Hodge, S.E.2    Duvoisin, R.3
  • 13
    • 0032913951 scopus 로고    scopus 로고
    • The role of inheritance in sporadic Parkinson's disease: Evidence from a longitudinal study of dopaminergic function in twins
    • Piccini, P., Burn, D.J., Ceravolo, R., Maraganore, D. and Brooks, D.J. (1999) The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins. Ann. Neurol., 45, 577-582.
    • (1999) Ann. Neurol. , vol.45 , pp. 577-582
    • Piccini, P.1    Burn, D.J.2    Ceravolo, R.3    Maraganore, D.4    Brooks, D.J.5
  • 14
    • 0000355052 scopus 로고
    • Report of familial cases of parkinsonism
    • Spellman, G.G. (1962) Report of familial cases of parkinsonism. J. Am. Med. Assoc., 179, 160-162.
    • (1962) J. Am. Med. Assoc. , vol.179 , pp. 160-162
    • Spellman, G.G.1
  • 16
    • 0028127866 scopus 로고
    • Autosomal dominant parkinsonism in a four generation family
    • Waters, C.H. and Miller, C.A. (1994) Autosomal dominant parkinsonism in a four generation family. Ann. Neurol., 35, 59-64.
    • (1994) Ann. Neurol. , vol.35 , pp. 59-64
    • Waters, C.H.1    Miller, C.A.2
  • 18
    • 0025834561 scopus 로고
    • A clinical and genetic study of familial Parkinson's disease
    • Maraganore, D.M., Harding, A.E. and Marsden, C.D. (1991) A clinical and genetic study of familial Parkinson's disease. Mov. Disord., 6, 205-211.
    • (1991) Mov. Disord. , vol.6 , pp. 205-211
    • Maraganore, D.M.1    Harding, A.E.2    Marsden, C.D.3
  • 22
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos, M.H., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B. et al. (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science, 276, 2045-2048.
    • (1997) Science , vol.276 , pp. 2045-2048
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3    Ide, S.E.4    Dehejia, A.5    Dutra, A.6    Pike, B.7
  • 25
    • 6844236385 scopus 로고    scopus 로고
    • Sequencing of the α-synuclein gene in 27 kindreds with familial Parkinson's disease
    • Vaughan, J., Farrer, M., Gasser, T., Durr, A., Agid, Y., Bonifati, V. et al. (1998) Sequencing of the α-synuclein gene in 27 kindreds with familial Parkinson's disease. Hum. Mol. Genet., 7, 751-753.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 751-753
    • Vaughan, J.1    Farrer, M.2    Gasser, T.3    Durr, A.4    Agid, Y.5    Bonifati, V.6
  • 28
    • 0032102455 scopus 로고    scopus 로고
    • The synucleins: A family of proteins involved in synaptic function, plasticity, neurodegeneration and disease
    • Clayton, D.F. and George, J.M. (1998) The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease. Trends Neurosci., 21, 249-254.
    • (1998) Trends Neurosci. , vol.21 , pp. 249-254
    • Clayton, D.F.1    George, J.M.2
  • 29
    • 0032500599 scopus 로고    scopus 로고
    • Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation
    • Jensen, P.H., Nielsen, M.S., Jakes, R., Dotti, C.G. and Goedert, M. (1998) Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation. J. Biol. Chem., 273, 26292-26294.
    • (1998) J. Biol. Chem. , vol.273 , pp. 26292-26294
    • Jensen, P.H.1    Nielsen, M.S.2    Jakes, R.3    Dotti, C.G.4    Goedert, M.5
  • 30
    • 0031787871 scopus 로고    scopus 로고
    • Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease
    • Conway, K.A., Harper, J.D. and Lansbury, P.T. (1998) Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease. Nature Med., 4, 1318-1320.
    • (1998) Nature Med. , vol.4 , pp. 1318-1320
    • Conway, K.A.1    Harper, J.D.2    Lansbury, P.T.3
  • 31
    • 0033583215 scopus 로고    scopus 로고
    • Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro
    • Giasson, B.I., Uryu, K., Trojanowski, J.Q. and Lee, V.M.Y. (1999) Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro. J. Biol. Chem., 274, 7619-7622.
    • (1999) J. Biol. Chem. , vol.274 , pp. 7619-7622
    • Giasson, B.I.1    Uryu, K.2    Trojanowski, J.Q.3    Lee, V.M.Y.4
  • 32
    • 0032573289 scopus 로고    scopus 로고
    • Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease
    • El-Agnaf, O.M., Jakes, R., Curran, M.D. and Wallace, A. (1998) Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease. FEBS Lett., 440, 67-70.
    • (1998) FEBS Lett. , vol.440 , pp. 67-70
    • El-Agnaf, O.M.1    Jakes, R.2    Curran, M.D.3    Wallace, A.4
  • 36
    • 0025964041 scopus 로고
    • The absolute number of nerve cells in substantia nigra in normal subjects and in patients with Parkinson's disease estimated with an unbiased stereological method
    • Pakkenberg, B., Moller, A., Gundersen, H.J., Mouritzen Dam, A. and Pakkenberg, H. (1991) The absolute number of nerve cells in substantia nigra in normal subjects and in patients with Parkinson's disease estimated with an unbiased stereological method. J. Neurol. Neurosurg. Psychiatry, 54, 30-33.
    • (1991) J. Neurol. Neurosurg. Psychiatry , vol.54 , pp. 30-33
    • Pakkenberg, B.1    Moller, A.2    Gundersen, H.J.3    Mouritzen Dam, A.4    Pakkenberg, H.5
  • 37
    • 0031750506 scopus 로고    scopus 로고
    • Diagnostic criteria for essential tremor: A population perspective
    • Louis, E.D., Ford, B., Lee, H., Andrews, H. and Cameron, G. (1998) Diagnostic criteria for essential tremor: a population perspective. Arch. Neurol., 55, 823-828.
    • (1998) Arch. Neurol. , vol.55 , pp. 823-828
    • Louis, E.D.1    Ford, B.2    Lee, H.3    Andrews, H.4    Cameron, G.5
  • 38
    • 0028920264 scopus 로고
    • Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects
    • Jankovic, J., Beach, J., Schwartz, K. and Contant, C. (1995) Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. Neurology, 45, 645-648.
    • (1995) Neurology , vol.45 , pp. 645-648
    • Jankovic, J.1    Beach, J.2    Schwartz, K.3    Contant, C.4
  • 39
    • 0023915363 scopus 로고
    • Lack of association between essential tremor and Parkinson's disease
    • Cleeves, L., Findley, L.J. and Koller, W. (1988) Lack of association between essential tremor and Parkinson's disease. Ann. Neurol., 24, 23-26.
    • (1988) Ann. Neurol. , vol.24 , pp. 23-26
    • Cleeves, L.1    Findley, L.J.2    Koller, W.3
  • 40
    • 0021636665 scopus 로고
    • Diffuse type of Lewy body disease: Progressive dementia with abundant cortical Lewy bodies and senile changes of varying degree - A new disease?
    • Kosaka, K., Yoshimura, M., Ikeda, K. and Budka, H. (1984) Diffuse type of Lewy body disease: progressive dementia with abundant cortical Lewy bodies and senile changes of varying degree - a new disease? Clin. Neuropathol., 3, 185-192.
    • (1984) Clin. Neuropathol. , vol.3 , pp. 185-192
    • Kosaka, K.1    Yoshimura, M.2    Ikeda, K.3    Budka, H.4
  • 41
    • 0032509038 scopus 로고    scopus 로고
    • Consensus statement on the diagnosis of multiple system atrophy
    • Gilman, S., Low, P.A., Quinn, N. et al. (1998) Consensus statement on the diagnosis of multiple system atrophy. J. Auton. Nerv. Syst., 74, 189-192.
    • (1998) J. Auton. Nerv. Syst. , vol.74 , pp. 189-192
    • Gilman, S.1    Low, P.A.2    Quinn, N.3
  • 42
    • 0032546895 scopus 로고    scopus 로고
    • Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy
    • Wakabayashi, K., Yoshimoto, M., Tsuji, S. and Takahashi, H. (1998) Alpha-synuclein immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy. Neurosci. Lett., 249, 180-182.
    • (1998) Neurosci. Lett. , vol.249 , pp. 180-182
    • Wakabayashi, K.1    Yoshimoto, M.2    Tsuji, S.3    Takahashi, H.4
  • 43
    • 0028364691 scopus 로고
    • Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene
    • Lantos, P.L., Ovenstone, I.M., Johnson, J., Clelland, C.A., Roques, P. and Rossor, M.N. (1994) Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene. Neurosci. Lett., 172, 77-79.
    • (1994) Neurosci. Lett. , vol.172 , pp. 77-79
    • Lantos, P.L.1    Ovenstone, I.M.2    Johnson, J.3    Clelland, C.A.4    Roques, P.5    Rossor, M.N.6
  • 44
    • 0032990543 scopus 로고    scopus 로고
    • Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease
    • Lippa, C.F., Schmidt, M.L., Lee, V.M. and Trojanowski, J.Q. (1999) Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease. Ann. Neurol., 45, 353-357.
    • (1999) Ann. Neurol. , vol.45 , pp. 353-357
    • Lippa, C.F.1    Schmidt, M.L.2    Lee, V.M.3    Trojanowski, J.Q.4
  • 45
    • 18344417178 scopus 로고    scopus 로고
    • Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
    • Lippa, C.F., Fujiwara, H., Mann, D.M. et al. (1998) Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am. J. Pathol., 153, 1365-1370.
    • (1998) Am. J. Pathol. , vol.153 , pp. 1365-1370
    • Lippa, C.F.1    Fujiwara, H.2    Mann, D.M.3
  • 46
    • 0026849545 scopus 로고
    • Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene
    • Dlouhy, S.R., Hsiao, K., Farlow, M.R. et al. (1992) Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene. Nature Genet., 1, 64-67.
    • (1992) Nature Genet. , vol.1 , pp. 64-67
    • Dlouhy, S.R.1    Hsiao, K.2    Farlow, M.R.3
  • 47
    • 0027517625 scopus 로고
    • Plaque-only Alzheimer disease is usually the Lewy body variant, and vice versa
    • Hansen, L.A., Masliah, E., Galasko, D. and Terry, R.D. (1993) Plaque-only Alzheimer disease is usually the Lewy body variant, and vice versa. J. Neuropathol. Exp. Neurol., 52, 648-54
    • (1993) J. Neuropathol. Exp. Neurol. , vol.52 , pp. 648-654
    • Hansen, L.A.1    Masliah, E.2    Galasko, D.3    Terry, R.D.4
  • 48
    • 0018372161 scopus 로고
    • Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia
    • Wisniewski, K., Jervis, G., Moretz, R. and Wisniewski, H.K. (1979) Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia. Ann. Neurol., 5, 288-294.
    • (1979) Ann. Neurol. , vol.5 , pp. 288-294
    • Wisniewski, K.1    Jervis, G.2    Moretz, R.3    Wisniewski, H.K.4
  • 51
    • 0031949084 scopus 로고    scopus 로고
    • Frontotemporal dementia and Parkinsonism linked to chromosome 17: A new group of tauopathies
    • Spillantini, M.G., Bird, T.D. and Ghetti, B. (1998) Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol., 8, 387-402.
    • (1998) Brain Pathol. , vol.8 , pp. 387-402
    • Spillantini, M.G.1    Bird, T.D.2    Ghetti, B.3
  • 54
    • 0344813807 scopus 로고    scopus 로고
    • Genetic dissection of Alzheimer's disease and related dementias: Amyloid and its relationship to tau
    • Hardy, J., Duff, K., Gwinn-Hardy, K., Perez-Tur, J. and Hutton, M. (1998) Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nature Med., 1, 95-99.
    • (1998) Nature Med. , vol.1 , pp. 95-99
    • Hardy, J.1    Duff, K.2    Gwinn-Hardy, K.3    Perez-Tur, J.4    Hutton, M.5
  • 55
    • 0032214501 scopus 로고    scopus 로고
    • Tau mutations cause frontotemporal dementias
    • Goedert, M., Crowther, R.A. and Spillantini, M.G. (1998) Tau mutations cause frontotemporal dementias. Neuron, 21, 955-958.
    • (1998) Neuron , vol.21 , pp. 955-958
    • Goedert, M.1    Crowther, R.A.2    Spillantini, M.G.3
  • 56
    • 0030695277 scopus 로고    scopus 로고
    • Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990
    • Bower, J.H., Maraganore, D.M., McDonnell, S.K. and Rocca, W.A. (1997) Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990. Neurology, 49, 1284-1288.
    • (1997) Neurology , vol.49 , pp. 1284-1288
    • Bower, J.H.1    Maraganore, D.M.2    McDonnell, S.K.3    Rocca, W.A.4
  • 57
    • 0033009603 scopus 로고    scopus 로고
    • Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: Tau pathologies with exclusively 'exon 10' isoforms
    • Sergeant, N., Wattez, A. and Delacourte, A. (1999) Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: tau pathologies with exclusively 'exon 10' isoforms. J. Neurochem., 72, 1243-1249.
    • (1999) J. Neurochem. , vol.72 , pp. 1243-1249
    • Sergeant, N.1    Wattez, A.2    Delacourte, A.3
  • 60
    • 0032491408 scopus 로고    scopus 로고
    • Genetic classification of primary neurodegenerative disease
    • Hardy, J. and Gwinn-Hardy, K. (1998) Genetic classification of primary neurodegenerative disease. Science, 282, 1075-1079.
    • (1998) Science , vol.282 , pp. 1075-1079
    • Hardy, J.1    Gwinn-Hardy, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.