GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

Ataxia due to an autosomal dominant intronic GAA repeat expansion in FGF14 [GAA-FGF14 ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the most common genetic late-onset ataxias. We here aimed to characterize its phenotypic profile, natural history progression, and...

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Bibliographic Details

Published in:	Brain (London, England : 1878) Vol. 146; no. 10; p. 4144
Main Authors:	Wilke, Carlo, Pellerin, David, Mengel, David, Traschütz, Andreas, Danzi, Matt C, Dicaire, Marie-Josée, Neumann, Manuela, Lerche, Holger, Bender, Benjamin, Houlden, Henry, Züchner, Stephan, Schöls, Ludger, Brais, Bernard, Synofzik, Matthis
Format:	Journal Article
Language:	English
Published:	England 03.10.2023
Subjects:	Cerebellar Ataxia - genetics Cohort Studies Cross-Sectional Studies Disease Progression Humans Prospective Studies Spinocerebellar Ataxias spinocerebellar ataxia 27B (SCA27B) 4-aminopyridine FGF14 ataxia SCA50 natural history
ISSN:	1460-2156, 1460-2156
Online Access:	Get more information
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