Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families

Neurology

Volumn 52, Issue 4, 1999, Pages 849-851

  Dichgans, M ^a   Schols M ^b   Herzog, J ^a   Stevanin, G ^c   Weirich Schwaiger, H ^f   Rouleau, G ^f   Burk K ^d   Klockgether, T ^e   Zuhlke C ^f   Laccone, F ^f   Riess, O ^g   Gasser, T ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b ST JOSEF HOSPITAL   (Germany)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY OF BONN   (Germany)

^f Department of Human Genetics ^*

^g RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CEREBELLAR ATAXIA; CHROMOSOME 19P; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; GERMANY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0344699331     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.4.849     Document Type: Article

References (10)

1. Zuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in a α1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
2. Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879-884.
3. Geschwind DH, Perlman S, Figueroa BS, Karrim BS, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology 1997;49:1247-1251.
4. Stevanin G, Dürr A, David MS, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49: 1243-1246.
5. Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64:67-73.
6. 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.
7. Jodice C, Mantuano E, Venziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973-1978.
8. Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-1243.
9. Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the CAG repeat in the ataxin-2 gene is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997;49: 1009-1012.
10. Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes. Ann Neurol 1997; 42:924-932.