We discovered that sacsin specifically localizes at the post-synaptic density of the cerebellum, where it controls key proteins involved in synapse organization and trans-synaptic signaling, required for tuning the firing properties of Purkinje cells. The project aims at defining how defects in this pathway can influence Purkinje cell-spine functionality and firing, contributing to the motor coordination defects observed in ARSACS. This study may identify new valuable targets for therapeutic intervention.
Grant : $80,000
Duration: One year
Contact:
Dr. Francesca Maltecca
Universita Vita-Salute San Raffaele
Via Olgettina 60 20132 Milan, Italy
email: maltecca.francesca@hsr.it