Autosomal recessive cerebellar ataxias: the current state of affairs

J Med Genet doi:10.1136/jmedgenet-2011-100210

S Vermeer1, B P C van de Warrenburg2, M A A P Willemsen2, M Cluitmans1, H Scheffer1,3, B P Kremer4, N V A M Knoers1,5
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 4Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands, 5Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands

Keywords: hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs), cerebellar syndrome, atypical phenotypes, genetic heterogeneity, ARCA genes, pathophysiological mechanisms.