A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

ABSTRACT: Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly to cancer and respiratory infections. Although genetic investigations and physiological models have established the linkage of ATM with AT onset, the mechanisms linking ATM to neurodegeneration remain undetermined, hindering therapeutic development. Several murine models of AT have been successfully generated showing some of the clinical manifestations of the disease, however they do not fully recapitulate the hallma

SUBMITTER: Beraldi R 

PROVIDER: S-EPMC4614707 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature