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A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

✍ Scribed by M. Masciullo; A. Modoni; F. Fattori; M. Santoro; P. S. Denora; P. Tonali; F. M. Santorelli; G. Silvestri


Book ID
106094068
Publisher
Springer
Year
2008
Tongue
English
Weight
274 KB
Volume
255
Category
Article
ISSN
0340-5354

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## 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 repor