Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey


Richter A., Ozgul R., Poisson V., Topaloglu H.

NEUROGENETICS, cilt.5, sa.3, ss.165-170, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 5 Konu: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1007/s10048-004-0179-y
  • Dergi Adı: NEUROGENETICS
  • Sayfa Sayıları: ss.165-170

Özet

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Quebec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.