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Volumn 156, Issue 2, 1998, Pages 180-185

Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics

Author keywords

Anticipation; CAG repeats; Cell mosaic; Founder effect; MRI; Spinocerebellar ataxia type 2

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; FEMALE; HUMAN; HYPOREFLEXIA; JAPAN; MALE; MOSAICISM; MUSCLE HYPOTONIA; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY; TREMOR; TRINUCLEOTIDE REPEAT;

EID: 0032053896     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(98)00040-9     Document Type: Article
Times cited : (16)

References (32)
  • 2
    • 0030443297 scopus 로고    scopus 로고
    • Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA
    • Aoki M., Abe K., Tobita M., Kameya T., Watanabe M., Itoyama Y. Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA. Clin. Genet. 50:1996;199-201.
    • (1996) Clin. Genet. , vol.50 , pp. 199-201
    • Aoki, M.1    Abe, K.2    Tobita, M.3    Kameya, T.4    Watanabe, M.5    Itoyama, Y.6
  • 6
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong S.S., McCall A.E., Cota J., Subramony S.-H., Orr H.T., Hughes M.R., Zoghbi H.Y. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10:1995;344-350.
    • (1995) Nature Genet. , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.-H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 7
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung M., Ranum L.P.W., Duvick L.A., Servadio A., Zoghbi H.Y., Orr H.T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet. 5:1993;254-258.
    • (1993) Nature Genet. , vol.5 , pp. 254-258
    • Chung, M.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 12
    • 0029049256 scopus 로고
    • Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
    • Kameya T., Abe K., Aoki M., Sahara M., Tobita M., Konno H., Itoyama Y. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology. 45:1995;1587-1594.
    • (1995) Neurology , vol.45 , pp. 1587-1594
    • Kameya, T.1    Abe, K.2    Aoki, M.3    Sahara, M.4    Tobita, M.5    Konno, H.6    Itoyama, Y.7
  • 17
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 21
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin Cuba
    • Orozco Diaz G., Nodarse Fleites A., Cordoves Sagaz R., Auburger G. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin Cuba. Neurology. 40:1990;1369-1375.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 25
    • 0030449316 scopus 로고    scopus 로고
    • Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): A clinical and genetic study with a pedigree in the Japanese
    • Sasaki H., Fukazawa T., Wakisaka A., Hamada K., Hamada T., Koyama T., Tsuji S., Tashiro K. Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese. J. Neurol. Sci. 144:1996;176-181.
    • (1996) J. Neurol. Sci. , vol.144 , pp. 176-181
    • Sasaki, H.1    Fukazawa, T.2    Wakisaka, A.3    Hamada, K.4    Hamada, T.5    Koyama, T.6    Tsuji, S.7    Tashiro, K.8
  • 26
    • 0028141691 scopus 로고
    • A clinical and pathological study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
    • Takiyama Y., Oyanagi S., Kawashima S., Sakamoto H., Saito K., Yoshida M., Tsuji S., Mizuno Y., Nishizawa M. A clinical and pathological study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 44:1994;1302-1308.
    • (1994) Neurology , vol.44 , pp. 1302-1308
    • Takiyama, Y.1    Oyanagi, S.2    Kawashima, S.3    Sakamoto, H.4    Saito, K.5    Yoshida, M.6    Tsuji, S.7    Mizuno, Y.8    Nishizawa, M.9
  • 27
    • 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
    • The Huntington's Disease Collaborative Research Group, 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 29
    • 0030025175 scopus 로고    scopus 로고
    • A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea
    • Watanabe M., Abe K., Aoki M., Kameya T., Itoyama Y., Shoji M., Ikeda M., Iizuka T., Hirai S. A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea. Neurol. Res. 18:1996;16-18.
    • (1996) Neurol. Res. , vol.18 , pp. 16-18
    • Watanabe, M.1    Abe, K.2    Aoki, M.3    Kameya, T.4    Itoyama, Y.5    Shoji, M.6    Ikeda, M.7    Iizuka, T.8    Hirai, S.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.