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

doi:10.1212/01.wnl.0000238507.85436.20

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.

Authors

Y Onodera¹, M Aoki, H Mizuno, H Warita, Y Shiga, Y Itoyama

Affiliation

¹ Department of Neurology, Tohoku University School of Medicine, Seiryo-machi, Sendai, Japan.

PMID: 17030774
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