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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Gücüyener K,Ozgül K,Paternotte C,Erdem H,Prud'homme JF,Ozgüç M,Topaloğlu Hdoi
10.1055/s-2001-16616subject
Has Abstractpub_date
2001-06-01 00:00:00pages
142-6issue
3eissn
0174-304Xissn
1439-1899journal_volume
32pub_type
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