Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

Gucuyener K., Ozgul K., Paternotte C., Erdem H., Prud'homme J., Ozguc M., ...Daha Fazla

NEUROPEDIATRICS, cilt.32, sa.3, ss.142-146, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 3
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1055/s-2001-16616
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.142-146
  • Anahtar Kelimeler: hereditary spastic ataxia, genetic locus, Charlevoix-Saguenay ataxia, FRIEDREICHS-ATAXIA, QUEBEC
  • Gazi Üniversitesi Adresli: Hayır

Özet

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 13q12. There was homozygosity and segregation of disease haplotypes in both families. This form of spastic ataxia may be more common than originally presumed.