ArticleMovement disorders : official journal of the Movement Disorder Society2025
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.Cerebellum (London, England) · 2026Article
- Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies.Cerebellum (London, England) · 2025Article
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Authors and funding
12 authors.
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Abstract
backgroundAn intronic (GAA)•(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of CACNA1A spectrum disorders.
objectiveThe objective of this work was to investigate the prevalence of GAA-FGF14 repeat expansions in patients with ataxia so far considered to be related to underlying CACNA1A variants.
methodsThis is a cross-sectional multicenter study.
resultsGAA-FGF14 testing showed pathogenic expansions (≥250 repeats) in 6/67 (9%) patients carrying CACNA1A variants. All patients with a pathogenic GAA-FGF14 expansion had a disease onset >40 years and carried variants of uncertain significance (VUSs) in CACNA1A. Genetic reevaluation led to the reclassification of CACNA1A VUSs as likely benign in four of six patients, who were ultimately diagnosed with SCA27B.
conclusionsLate-onset ataxia cases previously considered as CACNA1A-related disorder should be reevaluated and tested for SCA27B, particularly if related to a VUS in CACNA1A. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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