Italian network for autosomal dominant Alzheimer's disease and Frontotemporal Lobar Degeneration

Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) are two of the most common forms of dementia, that arise with both sporadic and familiar forms. Familiar forms are linked to pathogenic mutations which are transmitted with an autosomal dominant pattern. Specifically, mutations in APP, PSEN1 and PSEN2 gene are involved in AD, leading to altered amyloid metabolism, while mutations in MAPT, GRN and repeated expansion in C9ORF72 gene lead to altered tau metabolism in FTLD. These mutations are rare, thus the involvement of multiple centres is essential. The project, funded by the Italian Ministry of Health, works in close cooperation with US DIAN (Dominantly Inherited Alzheimer's Network) and GENFI (GENetic Frontotemporal Dementia Initiative). It aims at laying the foundations for an Italian network of clinical centres with capabilities to recruit and study persons carrying mutations linked to AD and FTLD. The project will define and validate a standardized protocol for the collection of clinical, imaging, neurophysiologic, and biological samples of patients with familial AD and FTLD. A national registry and a biobank for biological samples of familial AD and FTLD cases will be developed, as well as a common protocol for genetic testing and counselling of these cases. The project will also deploy an Italian hub-and-spoke network for the efficient referral and management of familial cases. A sample of asymptomatic and symptomatic carriers of pathogenic mutations (and non carriers, as controls) will be enrolled to identify neurobiological changes that occur in carriers many years before the clinical symptoms onset. The project will improve the management, diagnosis, and treatment of AD and FTLD, while speeding up the implementation of clinical trials across Italian centres through the registry of cases.