Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

OBJECTIVES: Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GA...

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Detalles Bibliográficos
Autores principales: Novis, Luiz Eduardo, Frezatti, Rodrigo S., Pellerin, David, Tomaselli, Pedro J., Alavi, Shahryar, Della Coleta, Marcus Vinícius, Spitz, Mariana, Dicaire, Marie-Josée, Iruzubieta, Pablo, Pedroso, José Luiz, Barsottini, Orlando, Cortese, Andrea, Danzi, Matt C., França, Marcondes C., Brais, Bernard, Zuchner, Stephan, Houlden, Henry, Raskin, Salmo, Marques, Wilson, Teive, Helio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10461713/
https://www.ncbi.nlm.nih.gov/pubmed/37646005
http://dx.doi.org/10.1212/NXG.0000000000200094

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