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Article

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

Clinical genetics - 1 Sept 2026

Kraus Eva-Maria, Lenz Johannes, Ploettner Pauline, Duffek Patricia, Rumpf Jost-Julian, Jamra Rami Abou, Wiedenhoeft John, Popp Denny

Abstract excerpt

GAA-FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult-onset autosomal dominant cerebellar ataxia (ADCA). In this study, we assessed the frequency of GAA-FGF14 ataxia in a predominantly sporadic German cohort of 107 genetically unresolved index patients using long-range PCR and nanopore sequencing. Somatic mosaicism of GAA repeat length was assessed using a custom...

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Source

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Identifiers

PMID: 42204984
DOI: 10.1111/cge.70184
PMCID: PMC13432038

Genes

GAA
FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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