The Sacs knock-out (KO) mouse is a faithful model of ARSACS, displaying ataxia, muscle weakness, cerebellar degeneration, and, as we have recently shown, learning and memory deficits. With this proposal, we seek to pharmacologically rescue motor- and cognitive phenotypes in the Sacs KO model of ARSACS with a drug that raises levels of a second messenger (cAMP) in the brain and that is currently in phase 2 and phase 3 clinical trials for two neurodevelopmental disorders. Second, we propose to develop gene therapy for ARSACS. Third, we have generated a conditional Sacs KO model, which we will use to pinpoint where and when Sacs loss-of-function causes the spectrum of ARSACS symptoms.
Subvention : 100 000$
Il s'agit d'un projet financé conjointement avec l' Action for ARSACS Foundation USA (AFA)
Durée : un an
Dr Stefan Strack
Département de neurosciences et de pharmacologie
Faculté de médecine Carver de l'Université de l'Iowa
2-452 BSB, 51, Newton Road.
Iowa City, IA 52242, États-Unis
Coordonnées :Stefan-strack@uiowa.edu
