Novel mutation of SACS gene in a Spanish
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Chiara Criscuolo; Francesco SaccΓ ; Giuseppe De Michele; Pietro Mancini; Onofre C
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Article
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2005
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John Wiley and Sons
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English
β 215 KB
## Abstract Autosomal recessive spastic ataxia of CharlevoixβSaguenay (ARSACS) is an inherited neurodegenerative disorder characterized by earlyβonset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor