GAA‐FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications

Background 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. Objecti...

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Vydáno v:	Movement disorders Ročník 40; číslo 10; s. 2262 - 2268
Hlavní autoři:	Indelicato, Elisabetta, Fleszar, Zofia, Pellerin, David, Nachbauer, Wolfgang, Zuchner, Stephan, Traschütz, Andreas, Amprosi, Matthias, Schöls, Ludger, Haack, Tobias B., Brais, Bernard, Boesch, Sylvia, Synofzik, Matthis
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.10.2025 Wiley Subscription Services, Inc
Témata:	Adult Aged Ataxia CACNA1A Calcium Channels - genetics Cerebellar ataxia Cerebellum Cross-Sectional Studies episodic ataxia Female Fibroblast Growth Factors - genetics GAA‐FGF14 ataxia Humans Male Middle Aged Movement disorders Phenotype Phenotypes SCA27B spinocerebellar ataxia 27B Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics CACNA1A spinocerebellar ataxia 27B SCA27B GAA‐FGF14 ataxia episodic ataxia
ISSN:	0885-3185, 1531-8257
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