Autosomal recessive spastic ataxia of Charlevoix

Autosomal recessive spastic ataxia of Charlevoix (ARSACS) is a rare autosomal recessive spastic ataxia unique to the region of Charlevoix-Saguenay, in the Province of Quebec, Canada. It is due to a mutation on the SACS gene locus q12 of chromosome 13. It has been reported in other regions of the world since it was discovered, including the Netherlands 9, Brazil 7, Italy 4 & France 10.

Patients usually present with lower limb spasticity at gait initiation around 1 year-old. Gradually, patients usually develop a slurred speech with distal amyotrophy and are wheelchair-bounded by 40 year-old.

Patients with autosomal recessive spastic ataxia of Charlevoix are frequently investigated with head CT and MRI.

Superior vermian atrophy is always present in patient with ARSACS 5. A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSCACS 11.

Other common but less specific findings include 1-4 :

  • inferior vermis atrophy
  • superior spinal cord atrophy
  • cerebellar hemisphere atrophy
  • bulky pons with hypointense T2 stripe
  • thalamic T2 hyperintensities
  • corpus callosum thinning
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Article information

rID: 18851
Synonyms or Alternate Spellings:
  • Spastic ataxia of Charlevoix
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Autosomal recessive spastic ataxia of Charlevoix (ARSACS)

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Cases and figures

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    Case 1: superior vermis atrophy in hereditary ataxia syndrome
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