A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan.
We investigated the genotype frequencies of patients with spinocerebellar ataxias (SCA), using a community-based prevalence study among 613,349 inhabitants in Tottori prefecture, Japan. Prevalence date was April 1, 1998. On this date, 109 SCA patients were identified in this community. The prevalence of SCA was 17.8 per 100,000 individuals. The most common cause of inherited SCA was a mutation at the SCA6 locus (25%), followed by mutation at the SCA1 locus (15%), SCA3 locus (5%) and dentatorubral-pallidoluysian atrophy locus (5%). None of the expanded alleles was found in SCA2, SCA7 or Friedreich's ataxia. Mutation at SCA6 was also the most common form of sporadic SCA at 11%. Prevalences per 100,000 individuals were as follows: SCA6, 2.40; SCA1, 0.48; DRPLA, 0.32, and SCA3, 0.16.
Mori
M
M
Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan. masatada@grape.med.tottori-u.ac.jp
Adachi
Y
Y
Kusumi
M
M
Nakashima
K
K
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels / Q000235:genetics; D002391:Catchment Area, Health; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000235:genetics; D005838:Genotype; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D015995:Prevalence; D011506:Proteins / Q000235:genetics; D012097:Repressor Proteins; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D020864:Calcium Channels, N-Type
D000067696:Ataxin-1; D000067699:Ataxin-3; D000067719:Ataxin-7; D000067528:Ataxins; D015220:Calcium Channels; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D012097:Repressor Proteins; C000593749:ATXN1 protein, human; C000593829:ATXN7 protein, human; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C092341:ATXN3 protein, human