Neurogenetics

, Volume 5, Issue 3, pp 165–170

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

  • Andrea M. Richter
  • Riza Koksal Ozgul
  • Virginie C. Poisson
  • Haluk Topaloglu
Original Article

DOI: 10.1007/s10048-004-0179-y

Cite this article as:
Richter, A.M., Ozgul, R.K., Poisson, V.C. et al. Neurogenetics (2004) 5: 165. doi:10.1007/s10048-004-0179-y

Abstract.

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 Québec 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.

Keywords

Spastic ataxia Turkey SACS mutation 

Supplementary material

Web Table 1 Oligonucleotides used for sequencing the SACS gene

supp.pdf (299 kb)
(PDF 299 KB)

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Andrea M. Richter
    • 1
  • Riza Koksal Ozgul
    • 2
  • Virginie C. Poisson
    • 1
  • Haluk Topaloglu
    • 3
  1. 1.Service de Génétique MédicaleHôpital Sainte-Justine MontréalCanada
  2. 2.DNA/Cell Bank and Gene Research Laboratory (TUBITAK)Hacettepe University Child Health InstituteAnkaraTurkey
  3. 3.Department of Child NeurologyHacettepe Children’s HospitalTurkey

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