Thursday, July 4, 2019

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Marie Beaudin, Antoni Matilla-DueƱas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G. Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D. Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein, Nicolas Dupre. Cerebellum (2019). doi:10.1007/s12311-019-01052-2

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders.