메뉴 건너뛰기




Volumn 61, Issue 2, 1997, Pages 336-346

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CHANNEL; DNA;

EID: 16944366032     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514867     Document Type: Article
Times cited : (143)

References (41)
  • 1
    • 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, Cancel G, LeGuern E, David G, Ouhabi H, et al (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 10:84-88
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3    Cancel, G.4    Leguern, E.5    David, G.6    Ouhabi, H.7
  • 2
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung M-y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 5:254-258
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Chung, M.-Y.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 3
    • 19244364538 scopus 로고    scopus 로고
    • The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: Genetic and physical mapping of the SCA7 locus
    • David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, et al (1996) The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet 59:1328-1336
    • (1996) Am J Hum Genet , vol.59 , pp. 1328-1336
    • David, G.1    Giunti, P.2    Abbas, N.3    Coullin, P.4    Stevanin, G.5    Horta, W.6    Gemmill, R.7
  • 4
    • 0029589675 scopus 로고
    • Chromosomal localization of the human genes for alpha1A, alpha1B, and alpha1E voltage-dependent Ca2+ channel subunits
    • Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S (1995) Chromosomal localization of the human genes for alpha1A, alpha1B, and alpha1E voltage-dependent Ca2+ channel subunits. Genomics 30:605-609
    • (1995) Genomics , vol.30 , pp. 605-609
    • Diriong, S.1    Lory, P.2    Williams, M.E.3    Ellis, S.B.4    Harpold, M.M.5    Taviaux, S.6
  • 6
    • 0011859737 scopus 로고
    • Cerebello-olivary atrophy
    • Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV (eds) De Jong JMBV (ed) Hereditary neuropathies and spinocerebellar atrophies. Elsevier Science, Amsterdam
    • Eadie MJ (1991) Cerebello-olivary atrophy. In: Vinken PJ, Bruyn GW, Klawans HL, De Jong JMBV (eds) Handbook of clinical neurology. Vol 16: De Jong JMBV (ed) Hereditary neuropathies and spinocerebellar atrophies. Elsevier Science, Amsterdam, pp 569-573
    • (1991) Handbook of Clinical Neurology , vol.16 , pp. 569-573
    • Eadie, M.J.1
  • 7
    • 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, Galster B, Otterud B, Leppert MF, Kaplan C, et al (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7
  • 9
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
    • Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 44 Suppl 2:A361
    • (1994) Neurology , vol.44 , Issue.2 SUPPL.
    • Gardner, K.1    Alderson, K.2    Galster, B.3    Kaplan, C.4    Leppert, M.5    Ptacek, L.6
  • 10
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, et al (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4:295-299
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3    Brice, A.4    Weber, J.5    Heredero, L.6    Scheufler, K.7
  • 13
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of 'The Drew family of Walworth'
    • Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of 'The Drew family of Walworth'. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 15
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on HD chromosomes
    • Huntington's Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on HD chromosomes. Cell 72: 971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 16
    • 0030058208 scopus 로고    scopus 로고
    • Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
    • Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 13:196-202
    • (1996) Nat Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 17
    • 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, Devys D, Trottier Y, Garnier JM, Weber C, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.M.6    Weber, C.7
  • 18
    • 0029782230 scopus 로고    scopus 로고
    • Autosomal dominant pure cerebellar ataxia: A clinical and genetic analysis of eight Japanese families
    • Ishikawa K, Mizusawa H, Saito M, Tanaka H, Nakajima N, Kondo N, Kanazawa I, et al (1996) Autosomal dominant pure cerebellar ataxia: a clinical and genetic analysis of eight Japanese families. Brain 119:1173-1182
    • (1996) Brain , vol.119 , pp. 1173-1182
    • Ishikawa, K.1    Mizusawa, H.2    Saito, M.3    Tanaka, H.4    Nakajima, N.5    Kondo, N.6    Kanazawa, I.7
  • 21
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarashi, S.5    Endo, K.6    Takahashi, H.7
  • 22
    • 0027486438 scopus 로고
    • The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus
    • Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, et al (1993) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 53:391-400
    • (1993) Am J Hum Genet , vol.53 , pp. 391-400
    • Kwiatkowski Jr., T.J.1    Orr, H.T.2    Banfi, S.3    McCall, A.E.4    Jodice, C.5    Persichetti, F.6    Novelletto, A.7
  • 23
    • 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, Warner CL, Spiegel R, Petrusewicz IH, Yee W-C, et al (1992) Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301-304
    • (1992) Nat Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3    Warner, C.L.4    Spiegel, R.5    Petrusewicz, I.H.6    Yee, W.-C.7
  • 24
  • 27
    • 16044370232 scopus 로고    scopus 로고
    • Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    • Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SMG, Lamerdin JE, et al (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87: 543-552
    • (1996) Cell , vol.87 , pp. 543-552
    • Ophoff, R.A.1    Terwindt, G.M.2    Vergouwe, M.N.3    Van Eijk, R.4    Oefner, P.J.5    Hoffman, S.M.G.6    Lamerdin, J.E.7
  • 30
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, Spain: An epidemiological and clinical study
    • Polo JM, Calleja J, Combarros O, Berciano J (1991) Hereditary ataxias and paraplegias in Cantabria, Spain: an epidemiological and clinical study. Brain 114:855-866
    • (1991) Brain , vol.114 , pp. 855-866
    • Polo, J.M.1    Calleja, J.2    Combarros, O.3    Berciano, J.4
  • 32
    • 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 (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 8:280-284
    • (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
  • 33
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14: 277-284
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6    Wakisaka, A.7
  • 34
    • 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, Antalffy B, Orr HT, Zoghbi HY (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 10:94-98
    • (1995) Nat Genet , vol.10 , pp. 94-98
    • Servadio, A.1    Koshy, B.2    Armstrong, D.3    Antalffy, B.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 35
    • 0028157908 scopus 로고
    • A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
    • Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, et al (1994) A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 54:11-20
    • (1994) Am J Hum Genet , vol.54 , pp. 11-20
    • Stevanin, G.1    Le Guern, E.2    Ravisé, N.3    Chneiweiss, H.4    Dürr, A.5    Cancel, G.6    Vignal, A.7
  • 36
    • 0029009456 scopus 로고
    • Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
    • Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, et al (1995) Evidence for intergenerational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4:1137-1146
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3    Endo, K.4    Rogaev, E.I.5    Tanaka, H.6    Sherrington, R.7
  • 40
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel. Nat Genet 15:62-69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6    Dobyns, W.B.7
  • 41
    • 0025871615 scopus 로고
    • The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
    • Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, et al (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49: 23-30
    • (1991) Am J Hum Genet , vol.49 , pp. 23-30
    • Zoghbi, H.Y.1    Jodice, C.2    Sandkuijl, L.A.3    Kwiatkowski Jr., T.J.4    McCall, A.E.5    Huntoon, S.A.6    Lulli, P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.