Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

doi:10.1007/s00415-025-13387-4

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Journal of neurology - 20 Sept 2025

Iruzubieta Pablo, Pellerin David, Ashton Catherine, Villa Felipe, Renaud Mathilde, Dicaire Marie-Josée, Danzi Matt C, Aldecoa Mayra, Mathieu Jean, Massie Rami, Chalk Colin H, Lafontaine Anne-Louise, Evoy François, Rioux Marie-France, Brisson Jean-Denis, Boycott Kym M, Houlden Henry, Synofzik Matthis, La Piana Roberta, Zuchner Stephan, Duquette Antoine, Brais Bernard

Abstract excerpt

BACKGROUND: Autosomal dominant spinocerebellar ataxia 27B (SCA27B), caused by an intronic (GAA•TTC) repeat expansion in FGF14, is a common cause of late-onset cerebellar ataxia, but its genotypic and phenotypic spectrum remains to be fully established. METHODS: We analysed the FGF14 (GAA•TTC) repeat expansion in a cohort of 134 patients with ataxia and 822 controls from Quebec. We conducted segregation study in...

Read the complete abstract on PubMed

Topics

Humans
Male
Female
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Cohort Studies

Aged

Adult

Fibroblast Growth Factors

France

Spinocerebellar Ataxias

Quebec

Trinucleotide Repeat Expansion

Canada

Source

Open in PubMed Open full text

Identifiers

PMID: 40974444
DOI: 10.1007/s00415-025-13387-4
PMCID: PMC12450228

Genes

GAA
FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.PMID 40974444Read ↗

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsSemantic proximity Read ↗

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.Semantic proximity Read ↗

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Semantic proximity Read ↗

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Semantic proximity Read ↗

Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27BSemantic proximity Read ↗

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta- AnalysisSemantic proximity Read ↗

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.Semantic proximity Read ↗

Identification of FGF14 GAA expansions in Polish patients with undiagnosed cerebellar ataxia – a preliminary studySemantic proximity Read ↗

Genetic testing for<i>SCA27B</i>in Korean Multiple System AtrophySemantic proximity Read ↗

Advancing molecular, phenotypic and mechanistic insights of<i>FGF14</i>pathogenic expansions (SCA27B)Semantic proximity Read ↗

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BSemantic proximity Read ↗

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.