, Volume 5, Issue 3, pp 165-170

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

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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.