Article
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Cerebellum (London, England) - 1 Aug 2023
Ashrafi Mahmoud Reza, Mohammadi Pouria, Tavasoli Ali Reza, Heidari Morteza, Hosseinpour Sareh, Rasulinejad Maryam, Rohani Mohammad, Akbari Masoud Ghahvechi, Malamiri Reza Azizi, Badv Reza Shervin, Fathi Davood, Dehnavi Ali Zare, Savad Shahram, Rabbani Ali, Synofzik Matthis, Mahdieh Nejat, Rezaei Zahra
Abstract excerpt
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one of the most common autosomal recessive ataxias. Here, we selected patients harboring SACS variants, the causative gene for ARSACS, in a large cohort of 137 patients with early-onset ataxia recruited from May 2019 to May 2021 and were referred to the ataxia...
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