Tural Mammadov1, Bülent Aslan2, Cemal Aydın Gündoğmuş3, Halil İbrahim Sever4, Nagihan İnan Gürcan4, Gazanfer Ekinci5

1Department of Radiology, Istanbul Florence Nightingale Hospital, Istanbul, Turkey
2Department of Radiology, Marmara University, Faculty of Medicine, Istanbul, Turkey
3Department of Radiology, Yüksekova State Hospital, Hakkari, Turkey
4Department of Radiology, Demiroglu Bilim University, Istanbul, Turkey
5Department of Radiology, Yeditepe University, Faculty of Medicine, Istanbul, Turkey

Keywords: Ataxia, autosomal recessive spastic ataxia of Charlevoix-Saguenay, genetics, magnetic resonance imaging, neuroradiology

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.