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...

Celý popis

Podrobná bibliografia

Vydané v:	Brain (London, England : 1878) Ročník 146; číslo 10; s. 4144
Hlavní autori:	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
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 03.10.2023
Predmet:	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
On-line prístup:	Zistit podrobnosti o prístupe
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!