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Article

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.

Cerebellum (London, England) - 16 Oct 2025

Conci Elena, Kelly Thomas L, Armstrong Ruth, Harijan Pooja, Horvath Rita

Abstract excerpt

Spinocerebellar ataxia 27 A (SCA27A) is a form of progressive cerebellar ataxia due to pathogenic variants in the Fibroblast Growth Factor 14 (FGF14) gene. The objective of this paper is to characterise the clinical spectrum of SCA27A microdeletions (> 50 bp, <2Mbp), and report two novel cases. Literature searches of PubMed, OMIM and ClinVar were carried out. We identified SCA27A microdeletions in 32 cases across...

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Identifiers

PMID: 41099962
DOI: 10.1007/s12311-025-01919-7
PMCID: PMC12532728

Genes

FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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