Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families

Abstract

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

Autosomal recessive ataxias: 20 types, and counting

“…The most consistent neuroimaging finding is cerebellar vermis atrophy, mostly from its superior portion [54][55][56] . Cervical and thoracic spinal cord thinning are occasionally reported 55 .…”

“…Spastic ataxia of Charlevoix-Saguenay (SACS) was first reported in Charlevoix and Saguenay region of northeast Quebec province, Canada 1,54 . In this area, its incidence was estimated in 1/1,932 newborns, and 1 in every 22 of its inhabitants are supposed to be carrier of the mutation responsible for SACS 2,55 .…”

“…In some patients, fundoscopy discloses hypermyelination of fibers radiating from optic disk and embedding the retinal vessels, a very peculiar finding. Horizontal nystagmus, saccadic alteration of smooth ocular pursuuit and miccional urgency might be present 54,55 . Mild mental retardation and cognitive decline were occasionally reported 54 .…”

“…Horizontal nystagmus, saccadic alteration of smooth ocular pursuuit and miccional urgency might be present 54,55 . Mild mental retardation and cognitive decline were occasionally reported 54 . Patients usually become wheelchair bound after the 3rd or 4th decades of life and life expectancy is reduced as they become bedridden.…”

“…As disease evolves, pyramidal signs can be masked by progression of peripheral neuropathy, with the exception of the Babinski sign, which is usually present even in later stages of disease. Distal atrophy, pes cavus, and hammer toes are commonly seen as disease advances [54][55][56] . In some patients, fundoscopy discloses hypermyelination of fibers radiating from optic disk and embedding the retinal vessels, a very peculiar finding.…”