Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients

Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients Lamia Ali-Pacha, W Hamza S Nouioua, C Lagier-Tourenne, Traki Benhassine, S Assami, Michel Koenig, Meriem Tazir. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Retrospectively and prospectively Study of 188 cases belonging to 117 families coming from different regions of Algeria, between 2001 à 2012, patients suspected of Autosomal recessive cerebellar ataxias. The molecular diagnosis could be established in 67% of Autosomal recessive cerebellar ataxias patients (126 patients belonging to 75 families): 52 patients (32 families) were affected with Friedreich ataxia, it was the most frequent entity, as found in the majority of studies, followed by AOA2 and AVED.