no code implementations • 21 Nov 2020 • Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, Alain Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stevanin, Isabelle Strubi-Vuillaume, Alexandra Durr, Bernard Sablonnière
This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children.