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Article

Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.

Acta neurologica Scandinavica - 1 Aug 2007

Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K

Abstract excerpt

OBJECTIVE: Autosomal dominant cerebellar ataxia (ADCA) is a heterogeneous neurodegenerative disorder. A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia. We screened patients with spinocerebellar degeneration (SCD) to investigate the frequency and clinical features of 16q22.1-linked ADCA. MATERIALS AND METHODS: We examined 91 SCD...

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Share to Cerebellar Ataxia
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17661799
DOI: 10.1111/j.1600-0404.2007.00815.x

Genes

SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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