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

Intronic GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA- 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 GAA- ataxia in a large co...

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Veröffentlicht in:	Neurology. Genetics 2023-10, Vol.9 (5), p.e200094
Hauptverfasser:	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, Jr, Marcondes C, Brais, Bernard, Zuchner, Stephan, Houlden, Henry, Raskin, Salmo, Marques, Wilson, Teive, Helio A
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinical/Scientific Note
Online-Zugang:	Volltext
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