title: [Hereditary ataxias in Akita prefecture].
abstract: To provide a genetic survey of hereditary ataxia, we performed PCR screening of SCA1, SCA2, MJD1 (SCA 3), SCA6, DRPLA, with 71 patients in 61 families living in Akita prefecture (1,205,571 population in 1997) in Japan. Of 71 patients in 61 families, 18 MJD1, 14 SCA6, 5 DRPLA, 1 SCA1 and 1 SCA2 patients were detected. Eighty percent of autosomal dominant inherited spinocerebellar degeneration (AD-SCD) including 7 spoladic patients genetically diagnosed as AD-SCD was MJD1 (45.7%) and SCA6 (34.3%). These suggest the prevalence rate of hereditary ataxias in Akita prefecture; 1.5 and 1.2/100,000 of MJD1 and SCA6, respectively. Only one patient of SCA1 was detected, which was frequently reported in Hokkaido and Tohoku area in Japan.
authors.affiliation: First Department of Internal Medicine, Akita University School of Medicine.
authors.forename: M
authors.initials: M
authors.lastname: Sugawara
authors.forename: I
authors.initials: I
authors.lastname: Toyoshima
authors.forename: K
authors.initials: K
authors.lastname: Kato
authors.forename: C
authors.initials: C
authors.lastname: Wada
authors.forename: T
authors.initials: T
authors.lastname: Imota
authors.forename: K
authors.initials: K
authors.lastname: Hirota
authors.forename: H
authors.initials: H
authors.lastname: Ishiguro
authors.forename: H
authors.initials: H
authors.lastname: Kagaya
authors.forename: A
authors.initials: A
authors.lastname: Hirata
authors.forename: M
authors.initials: M
authors.lastname: Ogasawara
authors.forename: O
authors.initials: O
authors.lastname: Masamune
mesh_terms: D005820:Genetic Testing; D006801:Humans; D007564:Japan / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D015995:Prevalence; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion