About Mutations

Background

This database is a repository of genetic variants in genes linked to Alzheimer’s disease (AD). Currently, it includes the three genes associated with autosomal-dominant AD (APP, PSEN1, PSEN2), plus two genes associated with AD by way of genetics or the neuropathology of the encoded protein (TREM2 and MAPT). The goal is to provide a comprehensive list of variants within these genes, ranging from causative to benign. For each variant, we capture the salient clinical and neuropathologic features, as well as functional effects, as reported in the literature.

Acknowledgements

We are grateful to the researchers who have provided information and feedback.

 

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.