Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
| Autor: | Mohammad Ali Faghihi, Matthis Synofzik, Soroor Inaloo, Vahid Reza Ostovan, Parham Habibzadeh, Muhammad Mahdi Nashatizadeh, Zahra Tabatabaei |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Genetics
Ataxia lcsh:QH426-470 early-onset ataxia Case Report Biology Mirror movements Phenotype hypokinesia spastic ataxia lcsh:Genetics Hypokinesia rigidity recessive ataxia ARSACS Deletion mutation ddc:570 Sensorimotor neuropathy medicine Molecular Medicine medicine.symptom Spastic ataxia Gene Genetics (clinical) |
| Zdroj: | Frontiers in Genetics, Vol 11 (2020) Frontiers in Genetics Frontiers in genetics 11, 585136 (2020). doi:10.3389/fgene.2020.585136 |
| ISSN: | 1664-8021 |
| DOI: | 10.3389/fgene.2020.585136/full |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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