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Development and management of a national Registry and a national Biobank for blood and CSF samples of families with autosomal dominant AD and FTLD.

PI: Dr. Fabrizio Tagliavini

Collaborators: Silvia Suardi, Giuseppe di Fede, Giacomina Rossi, Veronica Redaelli, Giovanni B Frisoni, Martina Bocchetta, Michela Pievani, Anna Mega, Luigi Antelmi, Roberta Ghidoni, Luisa Benussi.

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National Registry

The National Registry – developed within the “Italian Network for autosomal dominant Alzheimer’s disease and frontotemporal lobar degeneration” – is a digital platform (link_National Registry- (questo Link è contenuto nella cartella “4_Link-interni-ai-WP”) realized to collect demographic (i.e. year of birth, education), clinical (i.e. pathology) and genetic (i.e. mutation) data of subjects with a positive family history for autosomal dominant form of Alzheimer’s disease or frontotemporal lobar degeneration.

The Registry will include:

  • Subjects carrying a mutation linked to autosomal dominant forms of Alzheimer’s disease or frontotemporal lobar degeneration and their first-degree relatives.
  • Subjects affected by cognitive impairment and/or psychological-behavioural disorders with a positive family history of autosomal dominant Alzheimer’s disease or frontotemporal lobar degeneration, without genetic testing or non-mutation carriers.

With the term positive family history of autosomal dominant disease we mean:

  • At least three affected first-degree relatives in two generations, regardless the age of onset.
  • At least two affected first-degree relatives, at least one of them with an age of onset under 65.
  • Affected subjects with an age of onset under 60 or suggestive phenotypes (unusual clinical manifestation, incomplete penetrance, recurring of the disease in the family, geographic origin)

National Biobank

Biological samples (blood, cerebrospinal fluid, fibroblast, urine) will be stored within the National-Centralized Biobank, based at IRCCS Istituto Neurologico Carlo Besta in Milan. Each ItalianDIAfN Site recently signed an agreement concerning the policy of the Biobank accepting its general principles, the conditions of samples use and data sharing.