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Article

Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.

Cerebellum (London, England) - 1 Dec 2024

Moura João, Oliveira Jorge, Santos Mariana, Costa Sara, Silva Lénia, Lemos Carolina, Barros José, Sequeiros Jorge, Damásio Joana

Abstract excerpt

Spinocerebellar ataxias (SCA) are most frequently due to (CAG)n (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In this study we compared polyQ and non-repeat expansion SCA, in a cohort of patients with hereditary ataxia followed at a tertiary hospital. From a prospective study, 88 patients...

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Identifiers

PMID: 39048885
DOI: 10.1007/s12311-024-01723-9
PMCID: PMC11585503

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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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