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Article

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

Cerebellum (London, England) - 1 Aug 2024

Avila-Jaque Diana, Martin Fernanda, Bustamante M Leonor, Luna Álvarez Mariana, Fernández José Manuel, Dávila Ortiz de Montellano David José, Pardo Rosa, Varela Diego, Miranda Marcelo

Abstract excerpt

Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases...

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Source

Identifiers

PMID: 38180701
DOI: 10.1007/s12311-023-01654-x

Genes

KCND3

Provenance

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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