Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

ABSTRACT:

Importance

The core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneration. Mutations in the known genes explain only 50% to 60% of SCA cases. To date, no effective treatments exist, and the knowledge of drug-treatable molecular pathways is limited. The examination of overlapping mechanisms and the interpretation of how ataxia genes interact will be important in the discovery of potential disease-modifying agents.

Objectives

To address the possible relationships among known SCA genes, predict their functions, identify overlapping pathways, and provide a framework for candidate gene discovery using whole-transcriptome expression data.

Design, setting, and participants

We have used a systems biology app

SUBMITTER: Bettencourt C 

PROVIDER: S-EPMC4469030 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature