Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese

Neurology. 2006 Oct 10;67(7):1300-2. doi: 10.1212/01.wnl.0000238507.85436.20.

Abstract

Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the puratrophin-1 gene. This locus overlaps with spinocerebellar ataxia type 4 (SCA4) which shows ataxia with prominent sensory axonal neuropathy. We found that 16q-ADCA is a common ADCA subtype in the Tohoku District of Japan. The clinical feature of Japanese 16q-ADCA is characterized as late-onset pure cerebellar ataxia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics*
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • Demography
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Guanine Nucleotide Exchange Factors / genetics
  • Heterozygote
  • Humans
  • Japan / epidemiology
  • Male
  • Middle Aged
  • Spectrin / genetics

Substances

  • Guanine Nucleotide Exchange Factors
  • PLEKHG4 protein, human
  • Spectrin