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Article

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 1998

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen J T, Riess O

Abstract excerpt

OBJECTIVE: Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the alpha1A-subunit of the voltage dependent calcium channel....

Topics

Adult
Aged
Calcium Channels
Case-Control Studies
Chromosomes, Human, Pair 19
DNA
Female
Gene Frequency
Genes, Dominant
Genotype
Germany
Humans
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Pedigree

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 9436730
DOI: 10.1136/jnnp.64.1.67
PMCID: PMC2169927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9436730-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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