[DIAN/DIAN-J/DIAN-TU]

Area of Science:

• Neuroscience
• Genetics
• Biomarkers

Background:

• Autosomal dominant Alzheimer's disease (ADAD) is a rare genetic form of AD.
• The Dominantly Inherited Alzheimer's Network (DIAN) study investigates ADAD.
• Early detection of pathophysiological changes is crucial for intervention.

Purpose of the Study:

• To compare pathophysiological markers in mutation carriers versus non-carriers in ADAD.
• To establish the timeline of biomarker changes preceding symptom onset in ADAD.
• To implement and harmonize global ADAD research efforts, including DIAN-Japan (DIAN-J).

Main Methods:

• Observational study comparing biomarker profiles.
• Utilizing data from the DIAN observational study and its global extensions.
• Implementing compatible research protocols across international sites like DIAN-J.

Main Results:

• Biomarker changes in the brain initiate 20-25 years prior to clinical symptom onset in ADAD mutation carriers.
• DIAN-J successfully implemented the DIAN study protocols, ensuring global research compatibility.
• The API study corroborated DIAN findings regarding early biomarker alterations in familial AD.

Conclusions:

• Early-onset pathophysiological changes are detectable decades before symptoms in autosomal dominant Alzheimer's disease.
• Global harmonization of research, exemplified by DIAN-J, is vital for advancing ADAD studies.
• Ongoing clinical trials (DIAN-TU, API study) are testing interventions targeting these early changes.