학술논문
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
Document Type
Academic Journal
Author
Source
Movement Disorders. Oct 01, 2005 20(10):1358-1361
Subject
Language
English
ISSN
0885-3185
Abstract
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease. © 2005 Movement Disorder Society