Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

ABSTRACT:

Importance

Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous genetic disorders have been associated with chronic progressive ataxia and this consequently presents a diagnostic challenge for the clinician regarding how to approach and prioritize genetic testing in patients with such clinically heterogeneous phenotypes. Additionally, while the value of genetic testing in early-onset and/or familial cases seems clear, many patients with ataxia present sporadically with adult onset of symptoms and the contribution of genetic variation to the phenotype of these patients has not yet been established.

Objective

To investigate the contribution of genetic disease in a population

SUBMITTER: Fogel BL 

PROVIDER: S-EPMC4324730 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature