Novel mutation ofSACSgene in a Spanish family with autosomal recessive spastic ataxia
- 8 July 2005
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (10) , 1358-1361
- https://doi.org/10.1002/mds.20579
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 missenseSACSmutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the firstSACSmutation reported in Spain confirming worldwide distribution of the disease. © 2005 Movement Disorder SocietyKeywords
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