Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Related ArticlesCase Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Front Genet. 2020;11:585136 Authors: Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, Faghihi MA Abstract Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited ... read more
Source: PubMedPublished on 2021-01-09