The major aims of this project are:

1) to evaluate the functional role of sacsin at the synaptic level, in particular its involvement in the control of calcium fluxes in Purkinje neurons at the postsynaptic space;

2) to strengthen the evidence of efficacy of an off-label drug regulating calcium homeostasis in ARSACS, by conducting a preclinical trial at post- symptomatic stage in Sacs-/- mice with a chronic treatment;

3) to dissect the mechanism by which this drug rescues ataxia and Purkinje cell degeneration in Sacs-/- mice, by evaluating effects on deregulated calcium homeostasis, NF bundling or faulty mitochondrial transport, integrated with multi-omics approaches.

Duration: One year

Funding : $100,000


Dr. Francesca Maltecca

Dr. Francesca Maltecca , Ospedale San Raffaele, Milan Italy.