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Article

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.

Neurology - 1 Oct 1998

Benton C S, de Silva R, Rutledge S L, Bohlega S, Ashizawa T, Zoghbi H Y

Abstract excerpt

OBJECTIVE: To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. BACKGROUND: The association of cerebellar ataxia and progressive pigmentary macular dystrophy clinically defines a distinct form of ADCA classified as SCA-7. SCA-7 is caused by expansion of a highly unstable CAG repeat that lies in the coding region of a novel gene on...

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Identifiers

PMID: 9781533
DOI: 10.1212/wnl.51.4.1081

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

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