Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective

Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing Mohammed Faruq, Ankita Narang, Renu Kumari, Achal Kumar Sriavstava, Debasis Dash, Mitali Mukerji. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA) Rosella Abeti, Michael Parkinson, Chiranjeevi Sandi, Mark Pook, Andrey AY Abramov and Paola Giunti. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

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.