High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan

Y. Onodera, M. Aoki, T. Tsuda, H. Kato, T. Nagata, T. Kameya, K. Abe, Y. Itoyama

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)


Autosomal dominant cerebeller ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders that differ in both the clinical manifestations and modes of inheritance. At present, eight different genes causing ADCAs have been found: spinocerebeller ataxia type 1 (SCA1), SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and dentatorubropallidoluysian atrophy (DRPLA). The relative prevalence of each mutation varies according to race and native place. We studied 117 unrelated ADCA families that originated from the Tohoku District in the northernmost part of Honshu Island in Japan (mainly Miyagi Prefecture in the central part of Tohoku District). The SCA1 mutation was the most frequent among the known disorders (24.8% of all such families). The relative prevalence of SCA1 in the Tohoku District is very high compared with the values already reported from other regions in the world. Because the population of this area had seldom moved, the alleles with SCA1 mutations (including alleles with an intermediate CAG repeat number) are assumed to have been present in this area for a long time. (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)153-158
Number of pages6
JournalJournal of the neurological sciences
Issue number2
Publication statusPublished - 2000 Sep 15


  • Autosomal dominant
  • Japan
  • SCA1
  • Spinocerebeller ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan'. Together they form a unique fingerprint.

Cite this