메뉴 건너뛰기




Volumn 40, Issue 2, 1996, Pages 199-206

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRINUCLEOTIDE;

EID: 9444262436     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400211     Document Type: Article
Times cited : (57)

References (46)
  • 2
    • 0017871680 scopus 로고
    • Autosomal dominant system degeneration in Portuguese families of the Azores Islands
    • Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978;28:703-709
    • (1978) Neurology , vol.28 , pp. 703-709
    • Coutinho, P.1    Andrade, C.2
  • 3
    • 84948009382 scopus 로고
    • Hereditary ataxia: A pathological study of five cases of common ancestry
    • Schut J\V, Haymaker \V. Hereditary ataxia: a pathological study of five cases of common ancestry. J Pathol Clin Neural 1951:1:183-213
    • (1951) J Pathol Clin Neural , vol.1 , pp. 183-213
    • Schut, J.V.1    Haymaker, V.2
  • 4
    • 85035171476 scopus 로고    scopus 로고
    • Structural and immunocyto-chemical features of olivopontocerebellar atrophy caused by the SCA1 mutation define a unique phenotype
    • Robitaille Y, Schut L, Kish SJ. Structural and immunocyto-chemical features of olivopontocerebellar atrophy caused by the SCA1 mutation define a unique phenotype. Acta Neurol Scand (in press)
    • Acta Neurol Scand (In Press)
    • Robitaille, Y.1    Schut, L.2    Kish, S.J.3
  • 6
    • 0019984434 scopus 로고
    • The pathology of Machado-Joseph disease: Report of a possible homozygous case
    • Coutinho P, Guimarāes A, Scaravilli F. The pathology of Machado-Joseph disease: report of a possible homozygous case. Acta Neuropathol (Berl) 1982:58:48-54
    • (1982) Acta Neuropathol (Berl) , vol.58 , pp. 48-54
    • Coutinho, P.1    Guimaraes, A.2    Scaravilli, F.3
  • 7
    • 0020691438 scopus 로고
    • Joseph disease in a non-Portuguese family
    • Sakai T, Olita M, Ishino H. Joseph disease in a non-Portuguese family. Neurology 1983:33:74-80
    • (1983) Neurology , vol.33 , pp. 74-80
    • Sakai, T.1    Olita, M.2    Ishino, H.3
  • 8
    • 0024312725 scopus 로고
    • Type III Machado-Joseph disease in a Japanese family: A clinicopathological study with special reference to the peripheral nervous system
    • Kanda T, Isozaki E, Kato S, et al. Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system. Clin Neuropathol 1989;8:134-141
    • (1989) Clin Neuropathol , vol.8 , pp. 134-141
    • Kanda, T.1    Isozaki, E.2    Kato, S.3
  • 9
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar araxia type 1
    • Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar araxia type 1. Nature Genet 1993:4:221-226
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.-Y.2    Banfi, S.3
  • 10
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene from Machado-Joseph disease at chromosome I4q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene from Machado-Joseph disease at chromosome I4q32.1. Nature Genet 1994;8:221-227
    • (1994) Nature Genet , vol.8 , pp. 221-227
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 11
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991:352:77-79
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3
  • 12
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993:72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 13
    • 0028060244 scopus 로고
    • Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
    • Nagafuchi S, Yanagisawa H, Ohsaki E, et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet 1994:8:177-182
    • (1994) Nature Genet , vol.8 , pp. 177-182
    • Nagafuchi, S.1    Yanagisawa, H.2    Ohsaki, E.3
  • 14
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 15
    • 0028904293 scopus 로고
    • Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein
    • Jou Y-S, Myers RM. Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein. Hum Molec Genet 1995:4:465-469
    • (1995) Hum Molec Genet , vol.4 , pp. 465-469
    • Jou, Y.-S.1    Myers, R.M.2
  • 16
    • 0029055601 scopus 로고
    • Cellular localization of the Huntington's disease protein and discrimination of the normal and murated form
    • Trottier Y, Devys D, Imbert G, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and murated form. Nature Genet 1995:10:104-110
    • (1995) Nature Genet , vol.10 , pp. 104-110
    • Trottier, Y.1    Devys, D.2    Imbert, G.3
  • 17
    • 0029014180 scopus 로고
    • Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
    • Servadio A, Koshy B, Armstrong D, et al. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet 1995:10:94-98
    • (1995) Nature Genet , vol.10 , pp. 94-98
    • Servadio, A.1    Koshy, B.2    Armstrong, D.3
  • 18
    • 0029015557 scopus 로고
    • Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
    • Yazawa I, Nukina N, Hashida H, et al. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet 1995:10:99-103
    • (1995) Nature Genet , vol.10 , pp. 99-103
    • Yazawa, I.1    Nukina, N.2    Hashida, H.3
  • 19
    • 0029163222 scopus 로고
    • SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
    • Burright EN, Clark HB, Servadio A, et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995;82:937-948
    • (1995) Cell , vol.82 , pp. 937-948
    • Burright, E.N.1    Clark, H.B.2    Servadio, A.3
  • 20
    • 0028229119 scopus 로고
    • Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
    • Jodice C, Malaspina P, Persichetti F, et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am J Hum Genet 1994;54:959-965
    • (1994) Am J Hum Genet , vol.54 , pp. 959-965
    • Jodice, C.1    Malaspina, P.2    Persichetti, F.3
  • 21
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 1: Evidence for familial effects on the age at onset
    • Ranum LPW, Chung M, Banfi S, et al. Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 1994;55: 244-252
    • (1994) Am J Hum Genet , vol.55 , pp. 244-252
    • Ranum, L.P.W.1    Chung, M.2    Banfi, S.3
  • 22
    • 0029042742 scopus 로고
    • Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
    • Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Molec Genet 1995:4:807-812
    • (1995) Hum Molec Genet , vol.4 , pp. 807-812
    • Maruyama, H.1    Nakamura, S.2    Matsuyama, Z.3
  • 23
    • 0029047109 scopus 로고
    • Correlation between CAG repeat length and clinical features in Machado-Joseph disease
    • Maciel P, Caspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995:57:54-61
    • (1995) Am J Hum Genet , vol.57 , pp. 54-61
    • Maciel, P.1    Caspar, C.2    Destefano, A.L.3
  • 24
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 1992:2:301-304
    • (1992) Nature Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3
  • 25
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 1993:4:398-403
    • (1993) Nature Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 26
    • 0027240431 scopus 로고
    • Trinucleotide repeat length instability and age of onset in Huntington's disease
    • Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 1993:4:387-392
    • (1993) Nature Genet , vol.4 , pp. 387-392
    • Duyao, M.1    Ambrose, C.2    Myers, R.3
  • 27
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
    • Snell RG, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 1993:4:393-397
    • (1993) Nature Genet , vol.4 , pp. 393-397
    • Snell, R.G.1    MacMillan, J.C.2    Cheadle, J.P.3
  • 28
    • 0028997643 scopus 로고
    • Simple tandem DNA repeats and human genetic disease
    • Sutherland G, Richards RI. Simple tandem DNA repeats and human genetic disease. Proc Natl Acad Sei USA 1995:92: 3636-3641
    • (1995) Proc Natl Acad Sei USA , vol.92 , pp. 3636-3641
    • Sutherland, G.1    Richards, R.I.2
  • 29
    • 0027432418 scopus 로고
    • Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
    • Strong T, Tagle DA, Valdes JM, et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nature Genet 1993:5:259-265
    • (1993) Nature Genet , vol.5 , pp. 259-265
    • Strong, T.1    Tagle, D.A.2    Valdes, J.M.3
  • 30
    • 0028891145 scopus 로고
    • Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals
    • Landwehrmeyer GB, McNeil SM, Dure LS, et al. Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 1995:37:218-230
    • (1995) Ann Neurol , vol.37 , pp. 218-230
    • Landwehrmeyer, G.B.1    McNeil, S.M.2    Dure, L.S.3
  • 31
    • 0028855131 scopus 로고
    • Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients
    • Stine OC, Li S-H, Pleasant N, et al. Expression of the mutant allele of IT-15 (the HD gene) in striatum and cortex of Huntington's disease patients. Hum Molec Genet 1995:4:15-18
    • (1995) Hum Molec Genet , vol.4 , pp. 15-18
    • Stine, O.C.1    Li, S.-H.2    Pleasant, N.3
  • 32
    • 0028017992 scopus 로고
    • Identification and characterization of the gene causing type 1 spinocerebellar ataxia
    • Banfi S, Servadio A, Chung M-Y, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet 1994:7:513-519
    • (1994) Nature Genet , vol.7 , pp. 513-519
    • Banfi, S.1    Servadio, A.2    Chung, M.-Y.3
  • 33
    • 0029034511 scopus 로고
    • Widespread expression of Huntington's disease gene (IT15) protein product
    • Sharp AH, Loev SJ, Schilling G, et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 1995:14:1065-1074
    • (1995) Neuron , vol.14 , pp. 1065-1074
    • Sharp, A.H.1    Loev, S.J.2    Schilling, G.3
  • 34
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet 1994:6:409-414
    • (1994) Nature Genet , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 35
    • 85035175062 scopus 로고
    • Characterization of conservative somatic instability of the CAG repeat region in Huntington's disease
    • Schaefer FV, Calikoglu AS, Whetsell LH. Characterization of conservative somatic instability of the CAG repeat region in Huntington's disease. Am J Hum Genet 1994;55:A241
    • (1994) Am J Hum Genet , vol.55
    • Schaefer, F.V.1    Calikoglu, A.S.2    Whetsell, L.H.3
  • 36
    • 3142627980 scopus 로고
    • Somatic instability of the expanded allele of IT-15 from patients with Huntington disease
    • Stine OC, Pleasant N, Wagster MV, et al. Somatic instability of the expanded allele of IT-15 from patients with Huntington disease. Am J Hum Genet 1994;55:A244
    • (1994) Am J Hum Genet , vol.55
    • Stine, O.C.1    Pleasant, N.2    Wagster, M.V.3
  • 37
    • 85035181403 scopus 로고
    • Maternal anticipation of DRPLA and somatic heterogeneity of CAG repeats
    • Aoki M, Abe K, Kameya T, et al. Maternal anticipation of DRPLA and somatic heterogeneity of CAG repeats. Am J Hum Genet 1994;55:A210
    • (1994) Am J Hum Genet , vol.55
    • Aoki, M.1    Abe, K.2    Kameya, T.3
  • 38
    • 0028916306 scopus 로고
    • Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy
    • Ueno S, Kondoh K, Kotani Y, et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy. Hum Molec Genet 1995;4:663-666
    • (1995) Hum Molec Genet , vol.4 , pp. 663-666
    • Ueno, S.1    Kondoh, K.2    Kotani, Y.3
  • 39
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong SS, McCall AE, Cota J, et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1995:10:344-349
    • (1995) Nature Genet , vol.10 , pp. 344-349
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3
  • 40
    • 0000051759 scopus 로고
    • Hereditary ataxia: Clinical study through six generations
    • Schut J\V. Hereditary ataxia: clinical study through six generations. Arch Neurol Psychiatry 1950:63:535-568
    • (1950) Arch Neurol Psychiatry , vol.63 , pp. 535-568
    • Schut, J.V.1
  • 41
    • 0026553569 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Locus heterogeneity in a Nebraska kindred
    • Ranum LP\V, Rich SS, Nance MA, et al. Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology 1992:42:344-347
    • (1992) Neurology , vol.42 , pp. 344-347
    • Ranum, L.P.V.1    Rich, S.S.2    Nance, M.A.3
  • 43
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy and Machado-Joseph disease mutations in the large group of spinocerebellar ataxia patients
    • Silveira I, Lopes-Cendes I, Kish S, et al. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy and Machado-Joseph disease mutations in the large group of spinocerebellar ataxia patients. Neurology 1996;46:214-218
    • (1996) Neurology , vol.46 , pp. 214-218
    • Silveira, I.1    Lopes-Cendes, I.2    Kish, S.3
  • 44
    • 0027363951 scopus 로고
    • Gametic but not somatic instability of CAG repeat length in Huntington's disease
    • MacDonald ME, Barnes G, Srinidhi J, et al. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 1993:30:982-986
    • (1993) J Med Genet , vol.30 , pp. 982-986
    • MacDonald, M.E.1    Barnes, G.2    Srinidhi, J.3
  • 45
    • 0027745692 scopus 로고
    • Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
    • Zuhlke C, Riess O, Bockel B, et al. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Molec Genet 1993:2:2063-2067
    • (1993) Hum Molec Genet , vol.2 , pp. 2063-2067
    • Zuhlke, C.1    Riess, O.2    Bockel, B.3
  • 46
    • 3142515910 scopus 로고
    • Somatic mosaicism of the CAG expansion in the central nervous system as a reflection of progressive neuronal cell loss in dentatorubralpallidoluysian atrophy (DRPLA)
    • Takano H, Onodera O, Takahashi H, et al. Somatic mosaicism of the CAG expansion in the central nervous system as a reflection of progressive neuronal cell loss in dentatorubralpallidoluysian atrophy (DRPLA). Am J Hum Genet 1995; 57:A9
    • (1995) Am J Hum Genet , vol.57
    • Takano, H.1    Onodera, O.2    Takahashi, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.