title: Spinocerebellar ataxia 1 (SCA1) in the Japanese: analysis of CAG trinucleitide repeat expansion and instability of the repeat for paternal transmission.
abstract: SCA1 is caused by expansion of an unstable CAG triplet repeat in a novel gene located on the short arm of chromosome 6. In 126 Japanese individuals from 12 pedigrees with SCA1, studies were done to determine if they carried this mutant gene. All the affected and pre-symptomatic individuals, determined by haplotype segregation analyses, carried an abnormally expanded allele with the range of 39-63 repeat units. This repeat size inversely correlated with the age at onset. However, contrary to reported results, size of the repeat did not correlate with gender of the transmitting parent. Therefore, the CAG triplet repeat instability on paternal transmission is not likely to be fundamental to SCA1.
authors.affiliation: Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: A
authors.initials: A
authors.lastname: Wakisaka
authors.forename: A
authors.initials: A
authors.lastname: Takada
authors.forename: T
authors.initials: T
authors.lastname: Yoshiki
authors.forename: K
authors.initials: K
authors.lastname: Iwabuchi
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
authors.forename: T
authors.initials: T
authors.lastname: Fukazawa
authors.forename: T
authors.initials: T
authors.lastname: Hamada
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D012091:Repetitive Sequences, Nucleic Acid; D012737:Sex Factors; D013132:Spinocerebellar Degenerations / Q000235:genetics*