Development and validation of a harmonized protocol for genetic testing and counselling of families with autosomal dominant Alzheimer’s disease and frontotemporal lobar degeneration.

PI: Dr. Amalia Bruni

Collaborators: Livia Bernardi, Rosanna Colao, Gianfranco Puccio, Sandro Sorbi, Benedetta Nacmias, Irene Piaceri, Gemma Lombardi, Giovanni B Frisoni, Luisa Benussi, Martina Bocchetta, Michela Pievani, Anna Mega, Elio Scarpini, Daniela Galimberti.


  • 1.Genetic-Counselling-Protocol-en.pdf

  • 4.Genetic-Flowchart-en.pdf

  • 3.Fact Sheet and Informed Consent form for AD and FTLD at-risk relatives-en.pdf

  • 2.Fact Sheet and Informed Consent form for AD and FTLD patients-en.pdf

The ItalianDIAfN harmonized protocol for genetic testing and counselling – developed within the “Italian Network for autosomal dominant Alzheimer’s disease and frontotemporal lobar degeneration” – represents the result of a survey realized considering the literature on genetic counselling protocols and its specific guidelines. Genetic counselling is an informational and communication process to assist families and individuals in coping with a possible diagnosis of the genetic forms of AD and FTLD and understanding its implications. To date, in Italy no consensus-based guidelines are available for genetic counselling of familial AD or FTLD.

The ItalianDIAfN protocol was defined for genetic counselling of symptomatic subjects with AD and FTLD and/or their at-risk-relatives, provided by multidisciplinary team (a geneticist, a psychologist/psychiatrist, and a neurologist/geriatrician). The protocol also includes a cognitive and psychological evaluation to monitor the psychological status of the subject both before proceeding with the genetic testing and after the disclosure of the genetic status (three follow-up during the subsequent twelve months). Moreover, a decision tree for genetic testing was develoepr, guided by the following hierarchical information: CSF Aβ levels (if available), clinical phenotype, age at onset.