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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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Autores principales: Habibzadeh, Parham, Tabatabaei, Zahra, Inaloo, Soroor, Nashatizadeh, Muhammad Mahdi, Synofzik, Matthis, Ostovan, Vahid Reza, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784631/
https://www.ncbi.nlm.nih.gov/pubmed/33414805
http://dx.doi.org/10.3389/fgene.2020.585136
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author Habibzadeh, Parham
Tabatabaei, Zahra
Inaloo, Soroor
Nashatizadeh, Muhammad Mahdi
Synofzik, Matthis
Ostovan, Vahid Reza
Faghihi, Mohammad Ali
author_facet Habibzadeh, Parham
Tabatabaei, Zahra
Inaloo, Soroor
Nashatizadeh, Muhammad Mahdi
Synofzik, Matthis
Ostovan, Vahid Reza
Faghihi, Mohammad Ali
author_sort Habibzadeh, Parham
collection PubMed
description 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.
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spelling pubmed-77846312021-01-06 Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Habibzadeh, Parham Tabatabaei, Zahra Inaloo, Soroor Nashatizadeh, Muhammad Mahdi Synofzik, Matthis Ostovan, Vahid Reza Faghihi, Mohammad Ali Front Genet Genetics 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. Frontiers Media S.A. 2020-12-22 /pmc/articles/PMC7784631/ /pubmed/33414805 http://dx.doi.org/10.3389/fgene.2020.585136 Text en Copyright © 2020 Habibzadeh, Tabatabaei, Inaloo, Nashatizadeh, Synofzik, Ostovan and Faghihi. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Habibzadeh, Parham
Tabatabaei, Zahra
Inaloo, Soroor
Nashatizadeh, Muhammad Mahdi
Synofzik, Matthis
Ostovan, Vahid Reza
Faghihi, Mohammad Ali
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title_full Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title_fullStr Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title_full_unstemmed Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title_short Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
title_sort case report: expanding the genetic and phenotypic spectrum of autosomal recessive spastic ataxia of charlevoix-saguenay
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784631/
https://www.ncbi.nlm.nih.gov/pubmed/33414805
http://dx.doi.org/10.3389/fgene.2020.585136
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