title: 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.
authors.affiliation: Department of Child Neurology, Gazi University Medical School, Ankara, Turkey.
authors.forename: K
authors.initials: K
authors.lastname: Gücüyener
authors.forename: K
authors.initials: K
authors.lastname: Ozgül
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: H
authors.initials: H
authors.lastname: Erdem
authors.forename: J F
authors.initials: JF
authors.lastname: Prud'homme
authors.forename: M
authors.initials: M
authors.lastname: Ozgüç
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
mesh_terms: D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey
chemical_list: D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human