Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease mainly characterized by cerebellar ataxia, progressive spasticity and peripheral neuropathy. The disease is caused by mutations in the SACS gene (13q11) that alter the expression of the protein SACSIN. The first signs of the disease occur during childhood and the disease rapidly progresses over the years. Currently, no treatment is available for ARSACS patients, mainly because the SACSIN molecular functions remain elusive. Unfortunately, this is a very challenging aspect caused by the gigantic dimensions of SACSIN that hampers the possibility of performing standard molecular biology experiments. 
Curiously, many symptoms of ARSACS patients are common to patients affected by other neurodegenerative disorders. Thus, suggesting that these diseases may have common features also at the molecular level. Prompt by this observation, we extensively revised the literature and hypothesized that, similarly to other neurodegenerative disorders, the alteration of the SACSIN biological interactions is the main trigger of cell toxicity. We plan to demonstrate our hypothesis using an ARSACS cellular model, where we will study the connection between SACSIN altered interactions and cell death. Our study will pave the way to an innovative line of research aiming to restore SACSIN physiological interactions in order to prevent cell toxicity. Thus, having the possibility to impair the development and/or progression of the disease in ARSACS patients.

The Organizzazione di volontariato (ODV), a volunteer organization in Italy founded by Mrs. Susanna Deluca and Dr. Paolo Arrigoni, a member of the Foundation’s Board, is funding this research project via the Fondazione Telethon an Italian non-profit organization which finances scientific research projects on rare diseases.

Grant: 49.991€

Duration: one year


Dr. Roberto Giambruno

Consiglio Nazionale delle Ricerche –

CNR, Istituto per la Ricerca e l’Innovazione Biomedica (IRIB)

Palermo, Sicilia , Italy