GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortResearch in context

Summary: Background: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥250 expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatability remain to be establi...

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Principais autores:	David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M. Boycott, Jens Claassen, Dan Rujescu, Annette M. Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
Formato:	Artigo
Idioma:	Inglês
Publicado:	Elsevier 2024-04-01
Series:	EBioMedicine
Assuntos:	SCA27B GAA-FGF14 ataxia Downbeat nystagmus 4-Aminopyridine Treatment Trial
Acceso en liña:	http://www.sciencedirect.com/science/article/pii/S2352396424001117
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