Habibzadeh, Parham and Tabatabaei, Zahra and Inaloo, Soroor and Nashatizadeh, Muhammad Mahdi and Synofzik, Matthis and Ostovan, Vahid Reza and Faghihi, Mohammad Ali (2020) Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Frontiers in Genetics, 11. ISSN 1664-8021
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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.
Item Type: | Article |
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Subjects: | Archive Science > Medical Science |
Depositing User: | Managing Editor |
Date Deposited: | 30 Jan 2023 11:27 |
Last Modified: | 11 Jun 2024 13:34 |
URI: | http://editor.pacificarchive.com/id/eprint/84 |