Autosomal recessive spastic ataxia of Charlevoix-Saguenay
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.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.