Expanding the Landscape of Spinocerebellar Ataxia Type 5

Abstract

Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of SCA that usually affects adults. It has been recently reported in children in Europe, North America, and China. 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.

Keywords

spinocerebellar ataxia - hypotonia - developmental delay - genetics

Publication History

Received: 03 March 2022

Accepted: 07 May 2022

Accepted Manuscript online:
11 May 2022

Article published online:
21 July 2022

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