Charlevoix-Saguenay-Syndrom

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (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 , Brazil , Italy  & France .

Clinical presentation

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.

Radiographic features

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 . A tigroid pattern of the pons has been described (linear hypointensity on T2-WI), and is mainly seen in ARSACS .

Other common but less specific findings include  :

• 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

Siehe auch:

• Troyer-Syndrom
• Friedreich-Ataxie
• Vitamin-E-Mangel-Ataxie

und weiter:

• Tigerfellmuster