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Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay

✍ Scribed by Rie Haga; Yasuo Miki; Yukihisa Funamizu; Tomoya Kon; Chieko Suzuki; Tatsuya Ueno; Haruo Nishijima; Akira Arai; Masahiko Tomiyama; Haruo Shimazaki; Yoshihisa Takiyama; Masayuki Baba

Book ID: 116370165
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 263 KB
Volume: 114
Category: Article
ISSN: 0303-8467
DOI: 10.1016/j.clineuro.2011.12.019

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at

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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

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