spastic ataxia of Charlevoix-Saguenay

Epidemiology

• high prevalence in the Charlevoix-Saguenay-lac-Saint-Jean region of Quebec

Pathology

• hypermyelination of retinal-nerve fibers

Genetics

• autosomal recessive
• associated with defects in SACS

Clinical manifestations

• early onset neurodegenerative disease

Laboratory

• SACS gene mutation

Diagnostic procedures

• electromyogram (EMG), nerve conduction study
  • absent sensory-nerve conduction
  • reduced motor-nerve velocity

More general terms

• genetic disease of the central nervous system
• genetic disease of the peripheral nervous system

Additional terms

• Andermann syndrome (Charlevoix' disease)

Database

• OMIM: https://mirror.omim.org/entry/270550