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.
no code implementations • 20 Nov 2020 • Vincent Huin, Isabelle Strubi-Vuillaume, Kathy Dujardin, Marine Brion, Marie Delliaux, Delphine Dellacherie, Jean-Christophe Cuvellier, Jean-Marie Cuisset, Audrey Riquet, Caroline Moreau, Luc Defebvre, Bernard Sablonniere, David Devos
BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment.