Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...

A groundbreaking study reveals how a rare combination of genetics, proteomics, and environmental factors may hold the key to ...

Since 2011, a study called the Dominantly Inherited Alzheimer Network (DIAN) has been following a family in which many members have a mutation in a gene called PSEN2. The mutation causes the brain ...

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.

Mutations in multiple genes, including APP, PSEN1, and PSEN2, are associated with familial Alzheimer's disease (FAD), a rare inherited form of the disease. Little is known about the effects of ...