Giacomo Argenziano, Francesco Cavallieri, Andrea Castellucci, Valentina Fioravanti, Giulia Di Rauso, Annalisa Gessani, Isabella Campanini, Andrea Merlo, Manuela Napoli, Sara Grisanti, Jessica Rossi, Giulia Toschi, Chiara Zini, Angelo Ghidini, Franco Valzania
OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset ataxia characterized by cerebellar dysfunction, spasticity, and sensory-motor polyneuropathy due to variations in the SACS gene (13q11). To date, no studies have instrumentally assessed vestibular function in this condition. METHODS: We report a 36-year-old woman with diagnosis of ARSACS syndrome due to homozygous mutation (c.12232 C>T, p.Arg4078Ter) in the SACS gene...
February 2024: Neurology. Clinical Practice