A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Can J Neurol Sci. 2015 Jul;42(4):271-3. doi: 10.1017/cjn.2015.38.
No abstract available

Keywords: Genetics - clinical; Movement disorders.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cerebellum / pathology
  • Female
  • Genetic Testing
  • Heat-Shock Proteins / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Muscle Spasticity / genetics*
  • Muscle Spasticity / pathology*
  • Neurologic Examination
  • Pons / pathology
  • Reflex, Babinski
  • Republic of Korea
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / pathology

Substances

  • Heat-Shock Proteins
  • SACS protein, human

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type