Article
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
European journal of neurology - 1 Dec 2023
Iruzubieta Pablo, Pellerin David, Bergareche Alberto, Albajar Inés, Mondragón Elisabet, Vinagre Ana, Fernández-Torrón Roberto, Moreno Fermín, Equiza Jon, Campo-Caballero David, Poza Juan José, Ruibal Marta, Formica Alessandro, Dicaire Marie-Josée, Danzi Matt C, Zuchner Stephan, Croitoru Ioana, Ruiz Montserrat, Schlüter Agatha, Casasnovas Carlos, Pujol Aurora, Brais Bernard, Houlden Henry, López de Munain Adolfo, Ruiz-Martínez Javier
Abstract excerpt
BACKGROUND AND PURPOSE: Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late-onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs. METHODS: We...
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