DIAN
Dominantly Inherited Alzheimer's Disease Network
General
Inherited Alzheimer's disease is caused by mutations in one of three genes. Carriers have a 50% chance of passing the genetic mutation on to each of their children. Inherited Alzheimer's disease is very rare (less than 1% of all Alzheimer's disease cases) - but those who carry the mutated gene suffer from dementia, usually even before the age of 60.
Background and aims
The DIAN study was launched in 2008 in the US to improve research into the autosomal-dominant genetic forms of Alzheimer's disease (https://dian.wustl.edu/). This rare genetic form of Alzheimer's result from mutations in one of three genes (APP, PSEN1 or PSEN2). In this study, mutation carriers and non-mutation carriers from families with an APP, PSEN1 or PSEN2 mutation are regularly examined over many years. The aim of DIAN is to obtain information about the preclinical pathobiological cascade that leads to Alzheimer's dementia. It is hoped that these findings will also lead to a better understanding of the very common sporadic Alzheimer's dementia
Overview
The DIAN study is a multi-centre, longitudinal study of more than 500 people who are followed up every two years. People are enrolled if their biological parents (father or mother) or siblings have one of the three gene mutations APP, PSEN1 or PSEN2. An autosomal dominant form of Alzheimer's disease is suspected if the person is not older than 60 at the onset of the disease and if there are or have been other cases of the disease in the family that also started at the age of 60 or younger. Participants do not need to know their mutation status, they may or may not show symptoms of the disease. The minimum age is 18 years.
Course of the study
The study examinations include a detailed physical examination and interview by a study physician, a detailed neuropsychological examination (testing memory and other areas of mental performance), a blood sample and a lumbar puncture (collection of cerebrospinal fluid) for genetic testing and fluid biomarkers, a magnetic resonance imaging (MRI) scan of the head, and a positron emission tomography (FDG-PET-MRI or TAU-PET-MRI and PIB-PET-MRI) scan of the head.
Principal investigators:
Worldwide: Prof. Dr. Randy Bateman, Washington University, MO, USA
Germany: Prof. Dr. Mathias Jucker, DZNE Tübingen