메뉴 건너뛰기




Volumn 98, Issue 6, 1998, Pages 427-432

Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds

Author keywords

Ataxin 2; Autosomal dominant cerebellar ataxia; MRI; PCR; Polyneuropathy; SCA2

Indexed keywords

TRINUCLEOTIDE;

EID: 0032408829     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1998.tb07325.x     Document Type: Article
Times cited : (14)

References (25)
  • 1
    • 0029173928 scopus 로고
    • Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2)
    • DORR A, BRICH A, LEPAGE-LEZIN A et al. Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2). Clin Neurose 1995;3:12-16.
    • (1995) Clin Neurose , vol.3 , pp. 12-16
    • Dorr, A.1    Brich, A.2    Lepage-Lezin, A.3
  • 2
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holgufn, Cuba
    • DIAZ GO, FLEITES AN, SAGAZ RC, AUBURGER G. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holgufn, Cuba. Neurology 1990;40:1369-75.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Diaz, G.O.1    Fleites, A.N.2    Sagaz, R.C.3    Auburger, G.4
  • 3
    • 0014998732 scopus 로고
    • A new form of heredo-familial spinocerebellar degeneration with slow eye movements (Nine families)
    • WADIA NH, SWAMI RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (Nine families). Brain 1971;94:359-74.
    • (1971) Brain , vol.94 , pp. 359-374
    • Wadia, N.H.1    Swami, R.K.2
  • 4
    • 0028215542 scopus 로고
    • Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
    • LOPES-CENDES I, ANDERMANN E, ATTIG E et al. Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet 1994;S4:774-81.
    • (1994) Am J Hum Genet , vol.4 , pp. 774-781
    • Lopes-Cendes, I.1    Andermann, E.2    Attig, E.3
  • 5
    • 0028025275 scopus 로고
    • Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
    • BELAL S, CANCEL G, STEVANIN G et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994;44:1423-6.
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1    Cancel, G.2    Stevanin, G.3
  • 6
    • 0028901773 scopus 로고
    • Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family
    • FILLA A, DE MICHELE G, BANFI S et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995;45:793-6.
    • (1995) Neurology , vol.45 , pp. 793-796
    • Filla, A.1    De Michele, G.2    Banfi, S.3
  • 8
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • GESCHWIND DH, PERLMAN S, FIGUEROA CP, TREIMAN LJ, PULST SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;69:842-50.
    • (1997) Am J Hum Genet , vol.69 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 9
    • 15444348424 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 2: Génotype and phenotype in German kindreds
    • SCHöLS L, GISPERT S, VORGERD M et al. Spinocerebellar ataxia type 2: Génotype and phenotype in German kindreds. Arch Neurol 1997;54:1073-80.
    • (1997) Arch Neurol , vol.54 , pp. 1073-1080
    • Schöls, L.1    Gispert, S.2    Vorgerd, M.3
  • 10
    • 0026346458 scopus 로고
    • Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA) - Report of 2 pedigrees affected with non SCA1 type OPCA
    • SASAKI H, WAKISAKA A, TASHIRO K, HAMADA T, SHIMA K. Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA) - report of 2 pedigrees affected with non SCA1 type OPCA. Clin Neurol (in Japanese) 1991;31:1170-6.
    • (1991) Clin Neurol (In Japanese) , vol.31 , pp. 1170-1176
    • Sasaki, H.1    Wakisaka, A.2    Tashiro, K.3    Hamada, T.4    Shima, K.5
  • 11
    • 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 et al. Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese. J Neurol Sei 1996;144:176-81.
    • (1996) J Neurol Sei , vol.144 , pp. 176-181
    • Sasaki, H.1    Fukazawa, T.2    Wakisaka, A.3
  • 12
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • GISPERT S, TWELLS R, UROzco 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    Twells, R.2    Urozco, G.3
  • 13
    • 0030004280 scopus 로고    scopus 로고
    • Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12
    • NECHIPORUK A, LOPES-CENDES I, NECHIPORUK T et al. Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology 1996;46:1731-5.
    • (1996) Neurology , vol.46 , pp. 1731-1735
    • Nechiporuk, A.1    Lopes-Cendes, I.2    Nechiporuk, T.3
  • 14
    • 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
  • 15
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • PULST SM, 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
  • 16
    • 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, IGARASIII 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
    • Sanpei, K.1    Takano, H.2    Igarasiii, S.3
  • 17
    • 0028138380 scopus 로고
    • Genetic heterogeneity of dominantly inherited olivpontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)
    • IIIARA T, SASAKI H, WAKISAKA A et al. Genetic heterogeneity of dominantly inherited olivpontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jpn J Human Genet 1994;39:305-13.
    • (1994) Jpn J Human Genet , vol.39 , pp. 305-313
    • Iiiara, T.1    Sasaki, H.2    Wakisaka, A.3
  • 18
    • 1842353216 scopus 로고
    • Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
    • KUNKEL LM, SMITH KD, BOYER SH et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sei USA 1977;74:1245-9.
    • (1977) Proc Natl Acad Sei USA , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.H.3
  • 20
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • ORR HY, CIIUNG 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.Y.1    Ciiung, M.2    Banfi, S.3
  • 21
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • KOIDE R, IKEUCHI O, 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, O.2    Onodera, O.3
  • 22
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • KAWAGUCIII Y, OKAMOTO T, TANIWAKI M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-7.
    • (1994) Nat Genet , vol.8 , pp. 221-227
    • Kawaguciii, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 23
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3
    • BÜRK K, ABELE M, FETTER M et al. Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996;119:1497-505.
    • (1996) Brain , vol.119 , pp. 1497-1505
    • Bürk, K.1    Abele, M.2    Fetter, M.3
  • 25
    • 0030272725 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I: Multimodal electrophysiological study and comparison between SCA1 and SCA2 patients
    • PERRETTI A, SANTORO L, LANZILLO B et al. Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients. J Neurol Sei 1996;142:45-53.
    • (1996) J Neurol Sei , vol.142 , pp. 45-53
    • Perretti, A.1    Santoro, L.2    Lanzillo, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.