Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Masquerading as Charcot-Marie-Tooth (CMT) Disease: A Case Study and Literature Review of Korean Patients

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by a triad of cerebellar ataxia, progressive spasticity, and peripheral neuropathy, and a number of pathogenic mutations of SACS have been reported in the ARSACS cases [1].The SACS encodes a multidomain protein called sacsin, with its highest expression occurring in the motor system, including the cerebellum, granular system, and