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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/full |
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| author | Parham Habibzadeh Zahra Tabatabaei Soroor Inaloo Muhammad Mahdi Nashatizadeh Matthis Synofzik Matthis Synofzik Vahid Reza Ostovan Mohammad Ali Faghihi Mohammad Ali Faghihi |
| author_facet | Parham Habibzadeh Zahra Tabatabaei Soroor Inaloo Muhammad Mahdi Nashatizadeh Matthis Synofzik Matthis Synofzik Vahid Reza Ostovan Mohammad Ali Faghihi Mohammad Ali Faghihi |
| author_sort | Parham Habibzadeh |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-16T15:55:45Z |
| format | Article |
| id | doaj.art-887e7a48fec4409194598361a503174c |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-16T15:55:45Z |
| publishDate | 2020-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-887e7a48fec4409194598361a503174c2022-12-21T22:25:36ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-12-011110.3389/fgene.2020.585136585136Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayParham Habibzadeh0Zahra Tabatabaei1Soroor Inaloo2Muhammad Mahdi Nashatizadeh3Matthis Synofzik4Matthis Synofzik5Vahid Reza Ostovan6Mohammad Ali Faghihi7Mohammad Ali Faghihi8Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, IranPersian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, IranParkinson’s Disease and Movement Disorder Center, Department of Neurology, University of Kansas School of Medicine, Kansas, KS, United States Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, GermanyGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, GermanyClinical Neurology Research Center, Shiraz University of Medical Sciences, Shiraz, IranPersian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, IranCenter for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, FL, United StatesAutosomal 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.https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/fullARSACSrigidityhypokinesiaspastic ataxiaearly-onset ataxiarecessive ataxia |
| spellingShingle | Parham Habibzadeh Zahra Tabatabaei Soroor Inaloo Muhammad Mahdi Nashatizadeh Matthis Synofzik Matthis Synofzik Vahid Reza Ostovan Mohammad Ali Faghihi Mohammad Ali Faghihi Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Frontiers in Genetics ARSACS rigidity hypokinesia spastic ataxia early-onset ataxia recessive ataxia |
| 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 | ARSACS rigidity hypokinesia spastic ataxia early-onset ataxia recessive ataxia |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2020.585136/full |
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