Article
SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.
Journal of neurology - 21 May 2026
de Jesus Araujo Dias Amanda, Silveira Cynthia, Vinagre Adriana Mendes, Bonadia Luciana Cardoso, Santos Nadson Bruno Serra, Rezende Thiago Junqueira R, Corazza Luiza Alves, Pedroso José Luiz, Barsottini Orlando Graziani P, de Lima Fabricio Diniz, França Junior Marcondes C
Abstract excerpt
BACKGROUND: Spinocerebellar Ataxia 27B (SCA27B) is a recently described autosomal dominant ataxia caused by uniallelic GAA intronic expansions at FGF14. It is a frequent SCA subtype in North American/European populations, accounting for > 20% of all SCAs in some series. Despite that, its frequency as well as phenotype in Latin America remains to be established. OBJECTIVES: To determine the frequency and the...
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