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

Y. Onodera, M. Aoki, H. Mizuno, H. Warita, Y. Shiga, Y. Itoyama

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1300-1302
Number of pages3
JournalNeurology
Volume67
Issue number7
DOIs
Publication statusPublished - 2006 Oct

ASJC Scopus subject areas

  • Clinical Neurology

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