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Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

✍ Scribed by Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre Combarros; Jon Infante; Antonio Garcia; Sandro Banfi; Alessandro Filla; José Berciano

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
215 KB
Volume
20
Category
Article
ISSN
0885-3185

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✦ Synopsis

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

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