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Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia

  • Published:1998-12 Issue:6 Volume:19 Page:345-350
  • ISSN:0392-0461
  • Container-title:The Italian Journal of Neurological Sciences
  • language:en
  • Short-container-title:Ital J Neuro Sci

Author:

Pietrini V.,Godani M.,Calzetti S.,Negrotti A.,Castellotti B.,Riggio M. C.,Toffoli C.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Neuroscience,Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Reference27 articles.

1. Orr HT, Chung M, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.Nat Genet 4:221–226

2. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269–276

3. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A (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

4. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (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

5. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221–228
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