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

J Neurol Sci. 2000 Sep 15;178(2):153-8. doi: 10.1016/s0022-510x(00)00390-7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxin-1
  • Ataxins
  • DNA / blood
  • Female
  • Geography
  • Humans
  • Japan / epidemiology
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Prevalence
  • Spinocerebellar Ataxias / classification
  • Spinocerebellar Ataxias / epidemiology*
  • Spinocerebellar Ataxias / genetics
  • Trinucleotide Repeat Expansion*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • DNA