Expanding the Landscape of Spinocerebellar Ataxia Type 5

This study aims to describe clinical, radiological, and genetic data of a child presenting with SCA5, caused by a heterozygous likely pathogenic missense variant in SPTBN2 (NM_006946.3: c.1052G > C, p.Arg351Pro). According to databases and a review of the literature, this is one of few cases of SCA5 from Latin America. Expanding the landscape of SCA5 is relevant to the differential diagnosis of ataxic cerebral palsy and the autosomal recessive cerebellar ataxias. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research