Expanding the Landscape of Spinocerebellar Ataxia Type 5

Autor:	Maria Luiza Benevides, Marcondes França Jr
Rok vydání:	2022
Předmět:	Adult Heterozygote Cerebellar Ataxia Pediatrics Perinatology and Child Health Humans Spectrin Spinocerebellar Ataxias Ataxia Neurology (clinical) General Medicine Child
Zdroj:	Neuropediatrics. 53:358-360
ISSN:	1439-1899 0174-304X
DOI:	10.1055/a-1849-8128
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5ce735c94d9944b744e1e3044041bd https://doi.org/10.1055/a-1849-8128 Zobrazit plný text záznamu