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


Dr. Francesca Maltecca

Ospedale San Raffaele

Via Olgettina 58,20132, Milan, Italy  

email: maltecca.francesca@hsr.it