title: A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
abstract: The highest prevalence rate of spinocerebellar ataxia type 6 (SCA6) in the worldwide population is in the Chugoku and Kansai areas of Western Japan, but the reason of this geographic characteristics is unclear. We investigated the predisposing haplotypes and their geographic distribution. Genotyping of five microsatellite markers and three single nucleotide polymorphisms linked to the CACNA1A gene in 150 Japanese SCA6 patients from unrelated 118 families revealed three major haplotypes, carrying a pool of one common haplotype core. A founder chromosome was thought to have historically diverged into at least three types. One of the major haplotypes newly identified showed a strong geographical cluster around the Seto Inland Sea in the Chugoku and Kansai areas of Western Japan, whereas the others were widely distributed throughout Japan. The distribution of predisposing haplotypes contributes to the geographical differences in prevalence of SCA6.
authors.affiliation: Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734-8551, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Terasawa
authors.forename: Masaya
authors.initials: M
authors.lastname: Oda
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morino
authors.forename: Takafumi
authors.initials: T
authors.lastname: Miyachi
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Masayasu
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D016009:Chi-Square Distribution; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type