메뉴 건너뛰기




Volumn 164, Issue 2, 1999, Pages 187-194

Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6

Author keywords

CAG repeat; Magnetic resonance imaging; MJD; Morphometry; SCA1; SCA6

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN ATROPHY; CEREBELLAR ATAXIA; FEMALE; GENE FREQUENCY; GENE MUTATION; HEREDITARY ATAXIA; HUMAN; MAJOR CLINICAL STUDY; MALE; MORPHOMETRICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0033120421     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00076-3     Document Type: Article
Times cited : (38)

References (24)
  • 1
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type 1. Clinical features and MRI in families with SCA1, SCA2 and SCA3
    • Bürk K., Abele M., Fetter M., et al. Autosomal dominant cerebellar ataxia type 1. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain. 119:1996;1497-1505.
    • (1996) Brain , vol.119 , pp. 1497-1505
    • Bürk, K.1    Abele, M.2    Fetter, M.3
  • 2
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G., Abbas N., Stevanin G., et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 17:1997;65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 3
    • 0030465538 scopus 로고    scopus 로고
    • Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations
    • Higgins J.J., Harvey-White J.D., Nee L.E., Colli M.J., Grossi T.A., Kopin I.J. Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations. J Neurol Neurosurg Psychiatry. 61:1996;591-595.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 591-595
    • Higgins, J.J.1    Harvey-White, J.D.2    Nee, L.E.3    Colli, M.J.4    Grossi, T.A.5    Kopin, I.J.6
  • 4
    • 0031442152 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population
    • Ikeuchi T., Takano H., Koide R., et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol. 42:1997;879-884.
    • (1997) Ann Neurol , vol.42 , pp. 879-884
    • Ikeuchi, T.1    Takano, H.2    Koide, R.3
  • 5
    • 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. 14:1996;285-291.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 6
    • 16944366032 scopus 로고    scopus 로고
    • 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
    • Ishikawa K., Tanaka H., Saito M., et al. 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. Am J Hum Genet. 61:1997;336-346.
    • (1997) Am J Hum Genet , vol.61 , pp. 336-346
    • Ishikawa, K.1    Tanaka, H.2    Saito, M.3
  • 7
    • 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. 8:1994;221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 8
    • 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. 6:1994;9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 10
    • 0030668895 scopus 로고    scopus 로고
    • The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
    • Lorenzetti D., Bohlega S., Zoghbi H. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 49:1997;1009-1113.
    • (1997) Neurology , vol.49 , pp. 1009-1113
    • Lorenzetti, D.1    Bohlega, S.2    Zoghbi, H.3
  • 11
    • 0030679611 scopus 로고    scopus 로고
    • Spinocerebellar 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. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology. 49:1997;1238-1243.
    • (1997) Neurology , vol.49 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3
  • 12
    • 8544255538 scopus 로고    scopus 로고
    • Molecular features of the CAG repeats of spinocerebellar ataxia 6
    • Matsuyama Z., Kawakami H., Maruyama H., et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6. Hum Mol Genet. 6:1997;1283-1287.
    • (1997) Hum Mol Genet , vol.6 , pp. 1283-1287
    • Matsuyama, Z.1    Kawakami, H.2    Maruyama, H.3
  • 14
    • 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. 6:1994;14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 15
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr H.T., Chung M.Y., Banfi S., et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.Y.2    Banfi, S.3
  • 16
    • 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. 14:1996;269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 17
    • 0004136246 scopus 로고
    • J. Sambrook, E.F. Fritsch, & T. Maniatis. New York: Cold Spring Harbor Laboratory Press
    • Sambrook J., Fritsch E.F., Maniatis T. Molecular cloning. A laboratory manual. 2nd ed :1989;Cold Spring Harbor Laboratory Press, New York.
    • (1989) Molecular Cloning. a Laboratory Manual 2nd Ed
  • 18
    • 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., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 14:1996;277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 19
    • 0027818325 scopus 로고
    • Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes [in Japanese]
    • Sasaki H. Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes [in Japanese]. Rinsho Shinkeigaku (Clin Neurol). 33:1993;1285-1287.
    • (1993) Rinsho Shinkeigaku (Clin Neurol) , vol.33 , pp. 1285-1287
    • Sasaki, H.1
  • 20
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia : Phenotypic differences in genetically defined subtypes?
    • Schöls L., Amoiridis G., Buttner T., Przuntek H., Epplen J.T., Riess O. Autosomal dominant cerebellar ataxia : phenotypic differences in genetically defined subtypes? Ann Neurol. 42:1997;924-932.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schöls, L.1    Amoiridis, G.2    Buttner, T.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 21
    • 0343416801 scopus 로고    scopus 로고
    • Clinical and molecular features of spinocerebellar ataxia type 6
    • Stevanin G., Durr A., David G., et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology. 49:1997;1243-1246.
    • (1997) Neurology , vol.49 , pp. 1243-1246
    • Stevanin, G.1    Durr, A.2    David, G.3
  • 22
    • 0032231668 scopus 로고    scopus 로고
    • Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
    • Takano H., Cancel G., Ikeuchi T., et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 63:1998;1060-1066.
    • (1998) Am J Hum Genet , vol.63 , pp. 1060-1066
    • Takano, H.1    Cancel, G.2    Ikeuchi, T.3
  • 23
    • 0029121944 scopus 로고
    • Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry
    • Wakisaka A., Sasaki H., Takada A., et al. Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet. 32:1995;590-592.
    • (1995) J Med Genet , vol.32 , pp. 590-592
    • Wakisaka, A.1    Sasaki, H.2    Takada, A.3
  • 24
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O., Bailey J., Bonnen P., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 15:1997;62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.