Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is an early-onset cerebellar ataxia with spasticity, amyotrophy, nystagmus, dysarthria, and peripheral neuropathy.
With the collaboration of the clinical European and Mediterranean SPATAX network, we identified 15 families with 34 affected members presenting with ataxia and pyramidal signs or spasticity that were not linked to the ARSACS locus on chromosome 13.