First report of spastic ataxia of Charlevoix-Saguenay cases in Mexico. Novel SACS gene mutations identified

First report of spastic ataxia of Charlevoix-Saguenay cases in Mexico. Novel SACS gene mutations identified

Introduction and objectives: Spinocerebellar ataxia autosomal recessive (SCAR) represents a heterogeneous chronic and progressive neurological diseases group. They usually occur at an early age in a progressive manner. Diagnosis is complex due to phenotypic overlap. SCARs account for more than 50% o...

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Main Authors: G. Guenther, L.L.F. Lagunes, P.Z. Alaniz, M.C.B. Woehrlen, D.J.D-O. de Montellano, C.M.C. Zapata, M.Á.R. García, C.M. Garay, K. Carrillo-Sánchez, M.J. Olivares, A.M. Rivas, B.E.V. Torres, D.G. Saldaña, E.A.G. Latorre, C.A. Verson
Format: Article
Language:English
Published: Elsevier 2022-10-01
Series:Neurology Perspectives
Subjects:
Ataxia espinocerebelosa recesiva (SCAR)
ataxia hereditaria
secuenciación de exoma clínico
ataxia autosómica recesiva de Charlevoix-Saguenay (ARSACS)
gen SACS
Online Access:http://www.sciencedirect.com/science/article/pii/S2667049622000485

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http://www.sciencedirect.com/science/article/pii/S2667049622000485

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