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A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

✍ Scribed by Votsi, Christina; Zamba-Papanicolaou, Eleni; Middleton, Lefkos T.; Pantzaris, Marios; Christodoulou, Kyproula


Book ID
124067549
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
780 KB
Volume
78
Category
Article
ISSN
0003-4800

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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