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Article

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.

European journal of human genetics : EJHG - 1 Mar 2002

Zühlke Christine, Dalski Andreas, Hellenbroich Yorck, Bubel Stefanie, Schwinger Eberhard, Bürk Katrin

Abstract excerpt

CAG repeat expansions with loss of CAT interruptions in the coding region of the ataxin-1 gene are associated with spinocerebellar ataxia type 1 (SCA1). For molecular genetic diagnosis it is necessary to define the limits of normal and pathological size ranges. In most studies, normal alleles as measured by PCR range from 6-39 units with interruptions of 1-3 CAT trinucleotides that are thought to be involved in...

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PMID: 11973625
DOI: 10.1038/sj.ejhg.5200788

Genes

CAT

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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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Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.PMID 11973625Read ↗

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