Spastic Ataxia, Charlevoix-Saguenay Type

Alternative Names

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

Associated Genes

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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



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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