Autosomal recessive spastic ataxia of Charlevoix-Saguenay

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.

Clinical presentation

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.

Radiographic features

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

See also

• cerebellar atrophy