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

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 to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is cla...

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Bibliographic Details
Main Authors: Parham Habibzadeh, Zahra Tabatabaei, Soroor Inaloo, Muhammad Mahdi Nashatizadeh, Matthis Synofzik, Vahid Reza Ostovan, Mohammad Ali Faghihi
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-12-01
Series:Frontiers in Genetics
Subjects:
ARSACS
rigidity
hypokinesia
spastic ataxia
early-onset ataxia
recessive ataxia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/full

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