A phenotype without spasticity in sacsin-related ataxia-Reference-Cited by-同舟云学术

A phenotype without spasticity in sacsin-related ataxia

Published:2005-06-27 Issue:12 Volume:64 Page:2129-2131
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Shimazaki H.,Takiyama Y.,Sakoe K.,Ando Y.,Nakano I.

Abstract

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference10 articles.

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5. A novel mutation in SACS gene in a family from southern Italy

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