Systematic review of autosomal recessive ataxias and proposal for a classification.

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 evidenc

SUBMITTER: Beaudin M 

PROVIDER: S-EPMC5324265 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature