Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Parham Habibzadeh, Zahra Tabatabaei, Soroor Inaloo, Muhammad Mahdi Nashatizadeh, Matthis Synofzik, Vahid Reza Ostovan, Mohammad Ali Faghihi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number585136
JournalFrontiers in Genetics
Volume11
DOIs
StatePublished - Dec 22 2020

Keywords

  • ARSACS
  • early-onset ataxia
  • hypokinesia
  • recessive ataxia
  • rigidity
  • spastic ataxia

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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