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J Med Genet 48:651-659 doi:10.1136/jmedgenet-2011-100210
  • Neurogenetics
  • Review

Autosomal recessive cerebellar ataxias: the current state of affairs

  1. N V A M Knoers1,5
  1. 1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  2. 2Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  3. 3Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  4. 4Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands
  5. 5Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
  1. Correspondence to S Vermeer, Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, Nijmegen 6500 HB, The Netherlands; s.vermeer{at}antrg.umcn.nl
  • Received 23 May 2011
  • Accepted 25 July 2011
  • Published Online First 19 August 2011

Abstract

Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs) encompass a diverse group of rare neurodegenerative disorders in which a cerebellar syndrome is the key clinical feature. The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, and the genetic heterogeneity often complicate the clinical management of such patients. Despite the steady increase in newly discovered ARCA genes, many patients with a putative ARCA cannot be genotyped yet, proving that more genes must be involved. This review presents an updated overview of the various ARCAs. The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms.

Footnotes

  • Funding This work was supported by a grant from the Netherlands Organization of Health Research and Development (Zon MW RM000085) to NK.

  • Competing interests None.

  • Patient consent The figures do no show any recognisable features that can be traced back to the patients.

  • Provenance and peer review Not commissioned; externally peer reviewed.