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Review
. 2017 Feb 23:4:3.
doi: 10.1186/s40673-017-0061-y. eCollection 2017.

Systematic review of autosomal recessive ataxias and proposal for a classification

Marie Beaudin  1 , Christopher J Klein  2 , Guy A Rouleau  3 , Nicolas Dupré  1   4
Affiliations
Review

Systematic review of autosomal recessive ataxias and proposal for a classification

Marie Beaudin et al. Cerebellum Ataxias. .

Abstract

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.

Keywords: Cerebellar ataxia; Classification; Genetics; Recessive; Spinocerebellar degenerations.

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Figures

Fig. 1
Fig. 1
Flow diagram
Fig. 2
Fig. 2
Clinical algorithm of autosomal recessive ataxias
See this image and copyright information in PMC

References

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