Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
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- Richter, A.M., Ozgul, R.K., Poisson, V.C. et al. Neurogenetics (2004) 5: 165. doi:10.1007/s10048-004-0179-y
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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.
KeywordsSpastic ataxia Turkey SACS mutation
Web Table 1 Oligonucleotides used for sequencing the SACS gene