TY  - JOUR
AU  - Indelicato, Elisabetta
AU  - Fleszar, Zofia
AU  - Pellerin, David
AU  - Nachbauer, Wolfgang
AU  - Zuchner, Stephan
AU  - Traschütz, Andreas
AU  - Amprosi, Matthias
AU  - Schöls, Ludger
AU  - Haack, Tobias B
AU  - Brais, Bernard
AU  - Boesch, Sylvia
AU  - Synofzik, Matthis
TI  - GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
JO  - Movement disorders
VL  - 40
IS  - 10
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2025-01199
SP  - 2262 - 2268
PY  - 2025
AB  - 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
KW  - Humans
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Cross-Sectional Studies
KW  - Adult
KW  - Fibroblast Growth Factors: genetics
KW  - Phenotype
KW  - Aged
KW  - Calcium Channels: genetics
KW  - Spinocerebellar Ataxias: genetics
KW  - Spinocerebellar Ataxias: diagnosis
KW  - CACNA1A (Other)
KW  - GAA‐FGF14 ataxia (Other)
KW  - SCA27B (Other)
KW  - episodic ataxia (Other)
KW  - spinocerebellar ataxia 27B (Other)
KW  - CACNA1A protein, human (NLM Chemicals)
KW  - fibroblast growth factor 14 (NLM Chemicals)
KW  - Fibroblast Growth Factors (NLM Chemicals)
KW  - Calcium Channels (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40879304
DO  - DOI:10.1002/mds.30328
UR  - https://pub.dzne.de/record/281817
ER  -