Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an extremely rare disease in countries other than Canada. We presented the clinical data and magnetic resonance imaging (MRI) findings of four patients diagnosed with ARSACS in our clinic. In the literature, early atrophy of the superior vermis, progressive atrophy of the cerebellar hemisphere and cervical cord, and linear hypointensity in the pons on T2-weighted images were described. According to the literature, we have described the same typical MRI findings of ARSACS.