title: Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan.
abstract: OBJECTIVE
  The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan.
  
  
  METHODS
  Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (MRI) data were analyzed in detail.
  
  
  RESULTS
  Spinocerebellar ataxia (SCA) type 6 was often observed (77.7% of cases), with SCA2 (10.6% of cases) being the next most common form. In contrast, only one of the eighty patients had SCA1. Among the 15 sporadic SCA patients, genetic mutations for SCA2, SCA6, SCA17, and SCA31 were identified, indicating that ADCAs should be considered in sporadic cases of ataxia. Furthermore, in SCA2 cases, brainstem atrophy, pontine midline linear hyperintensity, and atrophy of the frontal lobes were frequently observed using MRI.
  
  
  CONCLUSIONS
  The present data indicate that the prevalence of ADCA in Aomori differs from other prefectures in the Tohoku District. MRI findings are very similar between SCA2 and multiple system atrophy (MSA), and thus care must be taken to prevent the misdiagnosis of sporadic SCA2 as MSA.
authors.affiliation: Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yamamoto-Watanabe
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Motofumi
authors.initials: M
authors.lastname: Hikichi
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Mandy
authors.initials: M
authors.lastname: Jackson
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Wakasaya
authors.forename: Etsuro
authors.initials: E
authors.lastname: Matsubara
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kawarabayashi
authors.forename: Kazuya
authors.initials: K
authors.lastname: Kannari
authors.forename: Mikio
authors.initials: M
authors.lastname: Shoji
mesh_terms: D000368:Aged; D002524:Cerebellar Ataxia / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence