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  • Title: Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
    Author: Criscuolo C, Saccà F, De Michele G, Mancini P, Combarros O, Infante J, Garcia A, Banfi S, Filla A, Berciano J.
    Journal: Mov Disord; 2005 Oct; 20(10):1358-61. PubMed ID: 16007637.
    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.
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