Spastic Ataxia, Charlevoix-Saguenay Type

Alternative Names

  • Spastic Ataxia 6, Autosomal Recessive
  • SPAX6
  • Charlevoix-Saguenay Spastic Ataxia
  • Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  • ARSACS

Associated Genes

Sacsin
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

270550

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q12.12

Description

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
270550.1LebanonUnknownYes Unsteady gait; Ataxia; Abnormality of ex...NM_014363.6:c.3391C>THomozygousAutosomal, RecessiveJalkh et al. 2019
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