Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay

J Neurol Sci. 2015 Nov 15;358(1-2):475-6. doi: 10.1016/j.jns.2015.08.032. Epub 2015 Aug 22.

Authors

Marta González Sánchez¹, Jesús Esteban Pérez², María Rabasa Pérez², Alberto García Redondo²

Affiliations

¹ Hospital Universitario Doce de Octubre, Neurología, Avenida de Córdoba s/n, 28041 Madrid Madrid, Spain. Electronic address: martags.86@gmail.com.
² Hospital Universitario Doce de Octubre, Neurología, Avenida de Córdoba s/n, 28041 Madrid Madrid, Spain.

PMID: 26344561
DOI: 10.1016/j.jns.2015.08.032

No abstract available

Keywords: ARSACS; Ataxia of Charlevoix-Saguenay; Autosomal recessive; SACS mutation; Sacsin; Spinocerebellar ataxia.

Publication types

Case Reports
Letter

MeSH terms

Adult
Female
Heat-Shock Proteins / genetics*
Humans
Muscle Spasticity / genetics*
Mutation
Spinocerebellar Ataxias / congenital*
Spinocerebellar Ataxias / genetics

Substances

Heat-Shock Proteins
SACS protein, human

Supplementary concepts

Spastic ataxia Charlevoix-Saguenay type