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An unusual case of a spasticity-lacking phenotype with a novel SACS mutation

✍ Scribed by Haruo Shimazaki; Kumi Sakoe; Kenji Niijima; Imaharu Nakano; Yoshihisa Takiyama

Book ID
119302252
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
155 KB
Volume
255
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES

Novel mutation of SACS gene in a Spanish
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
✍ Chiara Criscuolo; Francesco SaccΓ ; Giuseppe De Michele; Pietro Mancini; Onofre C πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 215 KB

## 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