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Neuropediatrics 2022; 53(05): 358-360
DOI: 10.1055/a-1849-8128
Short Communication

Expanding the Landscape of Spinocerebellar Ataxia Type 5

Maria Luiza Benevides 
1   Child Neurology Service, Neurology Department, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil
,
Marcondes França Jr
2   Department of Neurology, Neuromuscular Diseases, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil
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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


Publikationsverlauf

Eingereicht: 03. März 2022

Angenommen: 07. Mai 2022

Accepted Manuscript online:
11. Mai 2022

Artikel online veröffentlicht:
21. Juli 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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