Clinical and molecular features of spinocerebellar ataxia type 6

Neurology

Volumn 49, Issue 5, 1997, Pages 1243-1246

  Stevanin, G ^a   Durr A ^a   David, G ^a   Didierjean, O ^a   Cancel, G ^a   Rivaud, S ^a   Tourbah, A ^b   Warter, J M ^c   Agid, Y ^a   Brice, A ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Service de Neuroradiologie   (France)

^c HÔPITAL CIVIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CHANNEL; DNA; TRINUCLEOTIDE;

ADULT; AGED; ARTICLE; CEREBELLAR ATAXIA; CLINICAL FEATURE; GENE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0343416801     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.5.1243     Document Type: Article

References (25)

1. Mandel J. Breaking the rule of three. Nature 1997;386:767-769.
2. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
3. Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-226.
4. 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. Nature Genet 1996;14: 285-291.
5. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996;14:269-276.
6. 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. Nature Genet 1996;14:277-284.
7. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-227.
8. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene for ADCA type II reveals a highly unstable CAG repeat expansion. Nature Genet 1997;17;65-70.
9. Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996;59:392-399.
10. Stevanin G, Trottier Y, Cancel G, et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 1996;5:1887-1892.
11. Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-284.
12. Ishikawa K, Mizusawa H, Saito M, et al. Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. Brain 1996;119:1173-1182.
13. 1A-voltage-dependent calcium channel. Nature Genet 1997;15:62-69.
14. 2+ channel gene CACNL1A4. Cell 1996;87: 543-552.
15. Pierrot-Deseilligny C, Rivaud S, Gaymard B, Agid Y. Cortical control of reflexive visually guided saccades. Brain 1991;114: 1473-1485.
16. Amasino RM. Acceleration of nucleic acid hybridization rate by polyethylene glycol. Anal Biochem 1986;152:304-307.
17. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996;39:490-499.
18. Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997;6:1283-1287.
19. Riess O, Schöls L, Böttger H, et al. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-1293.
20. Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.
21. Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
22. Goldfarb LG, Vasconcelos O, Platonov FA, et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996;39:500-506.
23. Subramony SH, Fratkin JD, Manyam BV, Currier RD. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. Mov Disord 1996;11:174-180.
24. Dürr A, Smadja D, Cancel G, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995;118:1573-1581.
25. Gilman S, Sima AA, Junck L, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996;39:241-255.