Article
[Spinocerebellar ataxia type 2 in Cuba. A study of the electrophysiological phenotype and its correlation with clinical and molecular variables].
Revista de neurologia - 1 Jan 2000
Velázquez Pérez L, Almaguer Mederos L, Santos Falcón N, Hechavarría R, Sánchez Cruz G, Paneque H M
Abstract excerpt
INTRODUCTION: The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its clinical and electrophysiological presentation, even intrafamiliarly. OBJECTIVE: Factors...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
