Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients

SUMMARY: We present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In the literature, early atrophy of the superior vermis as well as progressive atrophy of the cerebellar hemispheres and cervical cord was described. We found linear hypointensity on T2 and T2 fluid-attenuated inversion recovery–weighted images in the pons in all of our 5 patients. Autosomal recessive spastic ataxia of Charlevoix-Saguenay(ARSACS) was first described in 1978 as a recessive form of spastic ataxia found in Quebec, Canada. To this day, there are more than 300 affected people in the Charlevoix-Saguenay-Lac-St-Jean region, where the carrier frequency is estimated to be 1 in 22 with an equal male-to-female ratio.1 The ARSACS syndrome has shown a consistent pattern of clinical symptoms and electro-physiologic and morphologic findings that have led to the iden-tification of the responsible gene localized on chromosome 13q.2 Since then, several cases have been described in other countries with new mutations and some variations in clinical signs an