A multi-modal approach to study C9orf72-mediated disease

ALS and FTD are related neurodegenerative disorders, for which there is to this day no curative treatment. C9orf72 gene mutations are the most frequent cause of familial ALS and FTD. This gene mutation is associated with marked variability in disease presentation and disease progression. The main goal of this project is to better understand C9orf72-mediated disease, using multiparametric imaging, neuropsychological testing and by assessing fluid biomarkers in the cerebrospinal fluid. In doing so, we hope to predict the phenotype asymptomatic mutation carriers will develop, to identify biomarkers that will predict onset of symptoms (especially in this exciting era of gene therapies for ALS) and predict disease progression in ALS patients. Lastly, we will study the neural substrate of mental health in ALS patients, by combining diagnostic assessments with an e-survey on mental health.

Keywords:C9orf72, Neuroimaging, Neuropsychology, Neurodegeneration, Mental Health

Disciplines:Neurological and neuromuscular diseases, Neuroimaging, Cognitive neuroscience, Biological psychiatry, Behavioural sciences