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Article

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Cerebellum (London, England) - 3 Jan 2025

Salem Ikhlass Haj, Blais Mathieu, Zuluaga-Sánchez Valeria M, Rouleau Laurence, Becker Esther B E, Dupré Nicolas

Abstract excerpt

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide. Prominent features include cerebellar ataxia, pyramidal spasticity, and neuropathy....

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PMID: 39753868
DOI: 10.1007/s12311-024-01777-9

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