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Volumn 244, Issue 4, 1997, Pages 256-261

Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus

Author keywords

Autosomal dominance; Cerebellar ataxia; SCA2 locus

Indexed keywords

MONOCLONAL ANTIBODY; POLYGLUTAMIC ACID; PROTEIN;

EID: 8244237061     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150050081     Document Type: Article
Times cited : (30)

References (30)
  • 1
    • 0028025275 scopus 로고
    • Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus
    • Belal S, Cancel G, Stevanin G, Hentati F, Khati C, et al (1994) Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. Neurology 44:1423-1426
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1    Cancel, G.2    Stevanin, G.3    Hentati, F.4    Khati, C.5
  • 2
    • 0029959667 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I. Clinical features and magnetic resonance imaging findings in families with SCA1, SCA2 and SCA3 mutation
    • Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T (1996) Autosomal dominant cerebellar ataxia type I. Clinical features and magnetic resonance imaging findings in families with SCA1, SCA2 and SCA3 mutation. Brain 119:1497-1505
    • (1996) Brain , vol.119 , pp. 1497-1505
    • Bürk, K.1    Abele, M.2    Fetter, M.3    Dichgans, J.4    Skalej, M.5    Laccone, F.6    Didierjean, O.7    Brice, A.8    Klockgether, T.9
  • 3
    • 0009703728 scopus 로고
    • Neuroanatomy of oculomotor structures in olivopontocerebellar atrophy (OPCA) patient with slow saccades
    • Büttner-Ennever JA, Wadia NH, Sakai H, Schwendemann G (1985) Neuroanatomy of oculomotor structures in olivopontocerebellar atrophy (OPCA) patient with slow saccades (abstract). J Neurol 232 [Suppl]:285
    • (1985) J Neurol , vol.232 , Issue.SUPPL. , pp. 285
    • Büttner-Ennever, J.A.1    Wadia, N.H.2    Sakai, H.3    Schwendemann, G.4
  • 4
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY (1993) Evidence for a mechanism predisposing intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet 5:254-258
    • (1993) Nature Genet , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5
  • 5
    • 0029173928 scopus 로고
    • Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2)
    • Dürr A, Brice A, Lepage-Lezin A, Cancel G, et al (1995) Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin Neurosci 3:12-16
    • (1995) Clin Neurosci , vol.3 , pp. 12-16
    • Dürr, A.1    Brice, A.2    Lepage-Lezin, A.3    Cancel, G.4
  • 6
    • 0029611008 scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA 2 families
    • Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, et al (1995) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA 2 families. Brain 118:1573-1581
    • (1995) Brain , vol.118 , pp. 1573-1581
    • Dürr, A.1    Smadja, D.2    Cancel, G.3    Lezin, A.4    Stevanin, G.5    Mikol, J.6    Bellance, R.7
  • 8
    • 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, Santoro L, Perretti A, et al (1995) Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 45: 793-796
    • (1995) Neurology , vol.45 , pp. 793-796
    • Filla, A.1    De Michele, G.2    Banfi, S.3    Santoro, L.4    Perretti, A.5
  • 9
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and localization to chromosome 16 (SCA4) in a Utah kindred
    • Gardner K, Alderson K, Galster B, et al (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 44:A361
    • (1994) Neurology , vol.44
    • Gardner, K.1    Alderson, K.2    Galster, B.3
  • 10
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA 2) to chromosome 12q23-24.1
    • Gispert S, Twells R, Orozco G, Brice A, Weber J, et al (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA 2) to chromosome 12q23-24.1. Nature Genet 4:295-299
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3    Brice, A.4    Weber, J.5
  • 11
    • 0029148926 scopus 로고
    • Localization of the candidate gene D-amino acid oxidase outside the refined I-cm region of spinocerebellar ataxia 2
    • Gispert S, Lunkes A, Santos N, Orozco G, Ha-Hao D, Ratzlaff T, et al (1995) Localization of the candidate gene D-amino acid oxidase outside the refined I-cm region of spinocerebellar ataxia 2 (letter). Am J Hum Genet 57:972-975
    • (1995) Am J Hum Genet , vol.57 , pp. 972-975
    • Gispert, S.1    Lunkes, A.2    Santos, N.3    Orozco, G.4    Ha-Hao, D.5    Ratzlaff, T.6
  • 12
    • 0019902437 scopus 로고
    • Clinical features and classification of the late onset autosomal dominant cerebellar ataxias, including descendants of 'The Drew Family of Walworth'
    • Harding AE (1982) Clinical features and classification of the late onset autosomal dominant cerebellar ataxias, including descendants of 'The Drew Family of Walworth'. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 13
    • 0026521157 scopus 로고
    • A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers
    • Hazan J, Dubay C, Pankowiak MP, et al (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 12:183-189
    • (1992) Genomics , vol.12 , pp. 183-189
    • Hazan, J.1    Dubay, C.2    Pankowiak, M.P.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, Devys D, Trottier Y, Garnier JM, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 14:285-291
    • (1996) Nature 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
  • 17
    • 0027348706 scopus 로고
    • Clinical and imaging correlations in inherited ataxias
    • Klockgether T, Wüllner U, Dichgans J (1993) Clinical and imaging correlations in inherited ataxias. Adv Neurol 61:77-96
    • (1993) Adv Neurol , vol.61 , pp. 77-96
    • Klockgether, T.1    Wüllner, U.2    Dichgans, J.3
  • 18
    • 0011732948 scopus 로고
    • Statistical methods for linkage analysis
    • Rao CR, Chakraborty D (eds) Elsevier, Amsterdam
    • Lathrop GM, Laouel JM (1991) Statistical methods for linkage analysis. In: Rao CR, Chakraborty D (eds) Handbook of statistics, vol 8, Elsevier, Amsterdam, pp 81-123
    • (1991) Handbook of Statistics , vol.8 , pp. 81-123
    • Lathrop, G.M.1    Laouel, J.M.2
  • 19
    • 0018872672 scopus 로고
    • Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
    • Lima L, Coutinho P (1980) Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology 30: 319-322
    • (1980) Neurology , vol.30 , pp. 319-322
    • Lima, L.1    Coutinho, P.2
  • 21
    • 0028215542 scopus 로고
    • Confirmation of the SCA2 locus us an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
    • Lopes-Cendes I, Andermann E. Attig E. Cendes F, et al (1994) Confirmation of the SCA2 locus us an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet 54:774-781
    • (1994) Am J Hum Genet , vol.54 , pp. 774-781
    • Lopes-Cendes, I.1    Andermann, E.2    Attig, E.3    Cendes, F.4
  • 22
    • 0024422743 scopus 로고
    • Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: Clinical, neuropathological, and biochemical findings
    • Orozco Diaz G, Estrada R, Perry TL (1989) Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J Neurol Sci 93: 37-50
    • (1989) J Neurol Sci , vol.93 , pp. 37-50
    • Orozco Diaz, G.1    Estrada, R.2    Perry, T.L.3
  • 23
    • 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 (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40:1369-1375
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 24
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide repeat in spinocerebellar ataxia type I
    • Orr HT, Chung M, Banfi S, et al (1993) Expansion of an unstable trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet 4:221-226
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 26
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 14:269-276
    • (1996) Nature Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3    Gispert, S.4    Chen, X.N.5    Lopes-Cendes, I.6
  • 27
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum L, Schut L, Lundgren J, Orr D (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8:280-284
    • (1994) Nature Genet , vol.8 , pp. 280-284
    • Ranum, L.1    Schut, L.2    Lundgren, J.3    Orr, D.4
  • 28
    • 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, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 14:277-284
    • (1996) Nature Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6
  • 29
    • 0028972448 scopus 로고
    • Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
    • Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, et al (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
    • (1995) Nature , vol.378 , pp. 403-406
    • Trottier, Y.1    Lutz, Y.2    Stevanin, G.3    Imbert, G.4    Devys, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.