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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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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. |
format | Online Article Text |
id | pubmed-7784631 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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