메뉴 건너뛰기




Volumn 98, Issue 1, 1998, Pages 55-59

CAG repeat expansions in patients with sporadic cerebellar ataxia

Author keywords

CAG repeat expansion; Spinocerebellar ataxia; Sporadic cases

Indexed keywords

ADULT; AGED; ARTICLE; CEREBELLAR ATAXIA; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

EID: 0031747495     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1998.tb07378.x     Document Type: Article
Times cited : (40)

References (36)
  • 1
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • HARDING AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993: 61: 1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 2
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • ORR HT, CHUNG M, BANFI S et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993: 4: 221-6.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 3
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • GISPERT S, TWELL R, OROZCO G et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993: 4: 295-9.
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twell, R.2    Orozco, G.3
  • 4
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • KAWAGUCHI Y, OKAMOTO T, TANIWAKI M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994: 8: 221-8.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 5
    • 0028911758 scopus 로고
    • Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
    • TWIST EC, CASAUBON LK, RUTTLEDGE MH et al. Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 1995: 32: 25-31.
    • (1995) J Med Genet , vol.32 , pp. 25-31
    • Twist, E.C.1    Casaubon, L.K.2    Ruttledge, M.H.3
  • 6
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • FLANIGAN K, GARDNER K, ALDERSON K et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996: 59: 392-9.
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3
  • 7
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • RANUM LPW, SCHUT LJ, LUNDGREN JK, ORR HT, LIVINGSTON DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994: 8: 280-4.
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Ranum, L.P.W.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 8
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
    • ZHUCHENKO O, BAILEY J, BONNEN P et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997: 15: 62-9.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 9
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
    • BENOMAR A, KROLS L, STEVANIN G et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995: 10: 84-8.
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3
  • 10
    • 0029048660 scopus 로고
    • Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
    • GOUW LG, KAPLAN CD, HAINES JH et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995: 10: 89-93.
    • (1995) Nat Genet , vol.10 , pp. 89-93
    • Gouw, L.G.1    Kaplan, C.D.2    Haines, J.H.3
  • 11
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • NAGAFUCHI S, YANAGISAWA H, SATO K et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994: 6: 14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 12
    • 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). Nat Genet 1994: 6: 9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 13
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • PULST S-M, NECHIPORUK A, NECHIPORUK T et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996: 14: 269-76.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.-M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 14
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • SAMPEI K, TAKANO H, IGARASHI S et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996: 14: 277-84.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sampei, K.1    Takano, H.2    Igarashi, S.3
  • 15
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • IMBERT G, SAUDOU F, YVERT G et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996: 14: 285-91.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 16
    • 0028819081 scopus 로고
    • Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
    • GENIS D, MATILLA T, VOLPINI V et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 1995: 45: 24-30.
    • (1995) Neurology , vol.45 , pp. 24-30
    • Genis, D.1    Matilla, T.2    Volpini, V.3
  • 17
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • CHUNG M-Y, RANUM LPW, DUVIC LA, SERVADIO A, ZOGHBI HY, ORR HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 1993: 5: 254-8.
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Chung, M.-Y.1    Ranum, L.P.W.2    Duvic, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 18
    • 9244229051 scopus 로고    scopus 로고
    • Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
    • GOLDFARB LG, VASCONCELOS O, PATONOV FA et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996: 39: 500-6.
    • (1996) Ann Neurol , vol.39 , pp. 500-506
    • Goldfarb, L.G.1    Vasconcelos, O.2    Patonov, F.A.3
  • 19
    • 8244220324 scopus 로고    scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
    • CANCEL G, DÜRR A, DIDIERJEAN O et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997: 6: 709-15.
    • (1997) Hum Mol Genet , vol.6 , pp. 709-715
    • Cancel, G.1    Dürr, A.2    Didierjean, O.3
  • 20
    • 0029047109 scopus 로고
    • Correlation belween CAG repeat length and clinical features in Machado-Joseph disease
    • MACIEL P, GASPAR C, DESTEFANO AL et al. Correlation belween 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    Gaspar, C.2    Destefano, A.L.3
  • 21
    • 0030788197 scopus 로고    scopus 로고
    • Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan
    • HSIEH M, TSAI H-F, LU T-M, YANG C-Y, WU H-M, LI S-Y. Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. Hum Genet 1997: 100: 155-62.
    • (1997) Hum Genet , vol.100 , pp. 155-162
    • Hsieh, M.1    Tsai, H.-F.2    Lu, T.-M.3    Yang, C.-Y.4    Wu, H.-M.5    Li, S.-Y.6
  • 22
    • 8544235014 scopus 로고    scopus 로고
    • SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene
    • RIESS O, SCHÖLS L, BÖTTGER H et al. SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997: 6: 1289-93.
    • (1997) Hum Mol Genet , vol.6 , pp. 1289-1293
    • Riess, O.1    Schöls, L.2    Böttger, H.3
  • 23
    • 8544255538 scopus 로고    scopus 로고
    • Molecular feature of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
    • MATSUYAMA Z, KAWAKAMI H, MARUYAMA H et al. Molecular feature of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997: 6: 1283-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 1283-1287
    • Matsuyama, Z.1    Kawakami, H.2    Maruyama, H.3
  • 24
    • 0029044667 scopus 로고
    • Dentatorubralpallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • IKEUCHI T, KOIDE R, TANAKA H et al. Dentatorubralpallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995: 37: 769-75.
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 25
    • 0028815025 scopus 로고
    • DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
    • KOMURE O, SANO A, NISHINO N et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995: 45: 143-9.
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3
  • 26
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of spinocerebellar ataxia type 1, dentatorubro-pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
    • SILVERIA I, LOPES-CENDES I, KISH S et al. Frequency of spinocerebellar ataxia type 1, dentatorubro-pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996: 46: 214-18.
    • (1996) Neurology , vol.46 , pp. 214-218
    • Silveria, I.1    Lopes-Cendes, I.2    Kish, S.3
  • 27
    • 0029134871 scopus 로고
    • Spino-cerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, sporadic ataxia
    • RANUM LPW, LUNDGREN JK, SCHUT LJ et al. Spino-cerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, sporadic ataxia. Am J Hum Genet 1995: 57: 603-8.
    • (1995) Am J Hum Genet , vol.57 , pp. 603-608
    • Ranum, L.P.W.1    Lundgren, J.K.2    Schut, L.J.3
  • 29
    • 0030872572 scopus 로고    scopus 로고
    • Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families
    • RAMESAR RS, BARDIEN S, BEIGHTON P, BRYER A. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum Genet 1997: 100: 131-7.
    • (1997) Hum Genet , vol.100 , pp. 131-137
    • Ramesar, R.S.1    Bardien, S.2    Beighton, P.3    Bryer, A.4
  • 30
    • 0031463660 scopus 로고    scopus 로고
    • An apparently sporadic case with spino-cerebellar ataxia type 1 (SCA1)
    • Tokyo
    • FUTAMURA N, MATSUMURA R, MURATA K, SUZUMURA A, TAKAYANAGI T. An apparently sporadic case with spino-cerebellar ataxia type 1 (SCA1). Clin Neurol (Tokyo) 1997: 37: 708-10.
    • (1997) Clin Neurol , vol.37 , pp. 708-710
    • Futamura, N.1    Matsumura, R.2    Murata, K.3    Suzumura, A.4    Takayanagi, T.5
  • 31
    • 0030640133 scopus 로고    scopus 로고
    • Molecular genetics of triplet repeats: Unstable expansion of triplet repeats as a new mechanism for neurodegenerative diseases
    • TSUJI S. Molecular genetics of triplet repeats: Unstable expansion of triplet repeats as a new mechanism for neurodegenerative diseases. Intern Med 1997: 36: 3-8.
    • (1997) Intern Med , vol.36 , pp. 3-8
    • Tsuji, S.1
  • 32
    • 0029840836 scopus 로고    scopus 로고
    • A sporadic case of dentatorubral-pallidoluysian atrophy (DRPLA) having an elderly age of onset
    • Tokyo
    • HORIKAWA H, FUTAMURA N, UETAKAGAITO M. A sporadic case of dentatorubral-pallidoluysian atrophy (DRPLA) having an elderly age of onset. Clin Neurol (Tokyo) 1996: 36: 584-6.
    • (1996) Clin Neurol , vol.36 , pp. 584-586
    • Horikawa, H.1    Futamura, N.2    Uetakagaito, M.3
  • 33
    • 0028265531 scopus 로고
    • Structural analysis of the human VH locus using non-repetitive intergenic probes and repetitive sequence probes: Evidence for recent reshuffling
    • MATSUMURA R, MATSUDA F, NAGAOKA H et al. Structural analysis of the human VH locus using non-repetitive intergenic probes and repetitive sequence probes: Evidence for recent reshuffling. J Immunol 1994: 152: 660-6.
    • (1994) J Immunol , vol.152 , pp. 660-666
    • Matsumura, R.1    Matsuda, F.2    Nagaoka, H.3
  • 34
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphism
    • LI S-H. MCINNIS MG, MARGOLIS RL, ANTONARAKIS SE, ROSS CA. Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphism. Genomics 1993: 16: 572-9.
    • (1993) Genomics , vol.16 , pp. 572-579
    • Li, S.-H.1    Mcinnis, M.G.2    Margolis, R.L.3    Antonarakis, S.E.4    Ross, C.A.5
  • 35
    • 0030200658 scopus 로고    scopus 로고
    • The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease
    • MATSUMURA R, TAKAYANAGI T, FUJIMOTO Y et al. The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease. J Neurol Sci 1996: 139: 52-7.
    • (1996) J Neurol Sci , vol.139 , pp. 52-57
    • Matsumura, R.1    Takayanagi, T.2    Fujimoto, Y.3
  • 36
    • 0030679611 scopus 로고    scopus 로고
    • Spino-cerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
    • MATSUMURA R, FUTAMURA N, FUJIMOTO Y et al. Spino-cerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997: 49: 1238-43.
    • (1997) Neurology , vol.49 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.