GENETICS OF PRIMARY LATE-ONSET DYSTONIA

The study aims to identify the genetic basis of primary late-onset dystonia, a neurological condition that can be highly disabling and carry social and financial costs. The project combines the expertise of nine leading Italian movement disorders clinical and genetic centers. Data will be collected from a wide, representative sample of patients with late-onset dystonia and their siblings. Genetic factors will be studied using the affected sibling pair method (ASP) that allows identification of novel disease associated-loci. The project will strengthen and integrate research and clinical practice on primary late-onset dystonia across Italy, and will improve our understanding of the genetic susceptibility factors for primary late-onsetr dystonia. The new information arising from the project are susceptible to be translated into clinical practice with improvement in diagnosis, familial counseling, and possible development of new treatment options, with health gains and benefit for families and public health system.