Ontology highlight
ABSTRACT:
SUBMITTER: Habibzadeh P
PROVIDER: S-EPMC7784631 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Habibzadeh Parham P Tabatabaei Zahra Z Inaloo Soroor S Nashatizadeh Muhammad Mahdi MM Synofzik Matthis M Ostovan Vahid Reza VR Faghihi Mohammad Ali MA
Frontiers in genetics 20201222
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the <i>SACS</i> gene. Once thought to be limited to Charlevoix-Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated wi ...[more]