AUTHOR=Habibzadeh Parham , Tabatabaei Zahra , Inaloo Soroor , Nashatizadeh Muhammad Mahdi , Synofzik Matthis , Ostovan Vahid Reza , Faghihi Mohammad Ali
TITLE=Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
JOURNAL=Frontiers in Genetics
VOLUME=11
YEAR=2020
URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.585136
DOI=10.3389/fgene.2020.585136
ISSN=1664-8021
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 to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.