%0 Journal Article
%A Indelicato, Elisabetta
%A Fleszar, Zofia
%A Pellerin, David
%A Nachbauer, Wolfgang
%A Zuchner, Stephan
%A Traschütz, Andreas
%A Amprosi, Matthias
%A Schöls, Ludger
%A Haack, Tobias B
%A Brais, Bernard
%A Boesch, Sylvia
%A Synofzik, Matthis
%T GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
%J Movement disorders
%V 40
%N 10
%@ 0885-3185
%C New York, NY
%I Wiley
%M DZNE-2025-01199
%P 2262 - 2268
%D 2025
%X An 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.The 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.This is a cross-sectional multicenter study.GAA-FGF14 testing showed pathogenic expansions (≥250 repeats) in 6/67 (9
%K Humans
%K Male
%K Female
%K Middle Aged
%K Cross-Sectional Studies
%K Adult
%K Fibroblast Growth Factors: genetics
%K Phenotype
%K Aged
%K Calcium Channels: genetics
%K Spinocerebellar Ataxias: genetics
%K Spinocerebellar Ataxias: diagnosis
%K CACNA1A (Other)
%K GAA‐FGF14 ataxia (Other)
%K SCA27B (Other)
%K episodic ataxia (Other)
%K spinocerebellar ataxia 27B (Other)
%K CACNA1A protein, human (NLM Chemicals)
%K fibroblast growth factor 14 (NLM Chemicals)
%K Fibroblast Growth Factors (NLM Chemicals)
%K Calcium Channels (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40879304
%R 10.1002/mds.30328
%U https://pub.dzne.de/record/281817