Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.

doi:10.1034/j.1600-0404.2003.01347.x

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Article

Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.

Acta neurologica Scandinavica - 1 Jan 2003

Matsumura R, Futamura N, Ando N, Ueno S

Abstract excerpt

OBJECTIVES: To determine the frequencies of spinocerebellar ataxias (SCAs) in the Kinki district, the western part of the main island of Japan. MATERIAL AND METHODS: One hundred and forty-three families with dominantly inherited ataxia and 220 patients with apparently sporadic cerebellar ataxia were examined for the SCA1, SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA12 and...

Topics

Adult
Aged
Aged, 80 and over
Calcium Channels
Chromosome Mapping
DNA Mutational Analysis
Female
Gene Frequency
Genes, Dominant
Genetics, Population
Humans
Japan
Machado-Joseph Disease
Male
Middle Aged
Mutation
Myoclonic Epilepsies, Progressive
Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 12542511
DOI: 10.1034/j.1600-0404.2003.01347.x

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