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Article

The clinical diagnosis of autosomal dominant spinocerebellar ataxias.

Cerebellum (London, England) - 1 Jan 2008

Klockgether Thomas

Abstract excerpt

The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxia diseases. Up to now, almost 30 different gene loci have been found. In 14 of them, the underlying mutations have been identified. The more common SCAs, SCA1, 2, 3 and 6 are due to translated CAG repeat expansions that code for an elongated polyglutamine tract within the respective proteins. These...

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PMID: 18418679
DOI: 10.1007/s12311-008-0023-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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