A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

Abstract The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neurop...

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Bibliographic Details
Main Authors: José Sánchez-Corona, Sergio Alberto Ramirez-Garcia, Gema Castañeda-Cisneros, Susan Andrea Gutiérrez-Rubio, Víctor Volpini, Diana M. Sánchez-Garcia, José Elías García-Ortiz, Diana García-Cruz
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2020-08-01
Series:Genetics and Molecular Biology
Subjects:
Ataxin-2 gene
anticipation phenomenon
autosomal dominant
spinocerebellar ataxia type 2
triplet expansion repeat
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500107&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500107&tlng=en

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