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Article

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

Journal of the neurological sciences - 26 Nov 1998

Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Okamoto K, Shoji M

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degenerative disease caused by CAG repeat expansions in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4). We analyzed 15 SCA6 patients in 14 unrelated Japanese families and 52 healthy Japanese...

Topics

Aged
DNA Mutational Analysis
Female
Humans
Male
Mutation
Pedigree
Reference Values
Repetitive Sequences, Nucleic Acid
Spinocerebellar Degenerations

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9879686
DOI: 10.1016/s0022-510x(98)00270-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9879686-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.PMID 9879686Read ↗

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)Semantic proximity Read ↗

Spinocerebellar ataxia type 6: CAG repeat expansion in α<sub>1a</sub> voltage‐dependent calcium channel gene and clinical variations in japanese populationSemantic proximity Read ↗

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Clinical and molecular features of spinocerebellar ataxia type 6.Semantic proximity Read ↗

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.Semantic proximity Read ↗

[SCA6: From gene identification to recent progress on pathogenesis].Semantic proximity Read ↗

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Direct Alteration of the P/Q-Type Ca<sup>2+</sup>Channel Property by Polyglutamine Expansion in Spinocerebellar Ataxia 6Semantic proximity Read ↗

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