Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelatedTurkish families

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentatio n. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal ne uropathy, prominent myelinated fibers in the optic fundus, and evidence of cerebellar atrophy that can be detected by cranial MRI. Intelligence is usu ally normal, however lower IQs have also been documented. This disorder mai nly originates from the Charlevoix-Saguenay region of Quebec. Here, we repo rt two Turkish families linked to the disease locus on chromosome 13q12. Th ere was homozygosity and segregation of disease haplotypes in both families . This form of spastic ataxia may be more common than originally presumed.