Systematic review of autosomal recessive ataxias and proposal for a classification

Marie Beaudin, Christopher J. Klein, Guy A. Rouleau, Nicolas Dupré

Research output: Contribution to journalReview articlepeer-review

36 Scopus citations


Background: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. Methods: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia. Results: After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms. Conclusion: We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications.

Original languageEnglish (US)
Article number3
JournalCerebellum and Ataxias
Issue number1
StatePublished - Feb 23 2017


  • Cerebellar ataxia
  • Classification
  • Genetics
  • Recessive
  • Spinocerebellar degenerations

ASJC Scopus subject areas

  • Clinical Neurology


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