Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Last revised by Yaïr Glick on 13 Nov 2022

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive spastic ataxia initially identified in 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 and France 10.

Patients usually present with lower limb spasticity at gait initiation around the age of 1 year. Patients usually gradually develop slurred speech with distal amyotrophy and are wheelchair-bound by age 40.

Patients with ARSACS are frequently investigated with head CT and MRI.

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

  • Case 1: superior vermis atrophy in ARSACS
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  • Case 2: low T2 stripes in pons
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  • Case 2: superior vermis atrophy
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