The ataxia of Charlevoix-Saguenay is a rare neurodevelopmental condition associated with structural retinal abnormalities. Mouse models cannot help to clarify this feature.  This project will investigate retinal defects driven by the loss of SACS using a new null-sacs zebrafish line that replicates main features of ARSACS. Thanks to this small but new powerful vertebrate model, we will try to characterize and define the nature of the retinal findings seen in ARSACS patients. Retinal studies in ARSACS could represent an attractive target to investigate the consequences of sacsin depletion,  to develop potential therapies, and to reveal new information to halt disease progression.

Project funded by the Organizzazione di volontariato (ODV) with the support from the Fondazione Telethon.

Grant: 50.000€

Duration: one year


Dr. Valentina Naef

Stella Maris Foundation (IRCCS) Calambrone, Italy