Man With Rare Genetic Mutation Shows Unprecedented Resistance to Alzheimer’s

Clinical Relevance: A newly discovered genetic variant could provide therapeutic clues for Alzheimer's disease

• A patient with a never-before-seen genetic mutation is only the second patient to show exceptional resistance to a rare form of Alzheimer's known as ADAD.
• Despite heavy plaque buildup in the brain, the man remained cognitively healthy until his late sixties.
• The mutation, named RELN-COLBOS, appeared to mitigate tau pathologies particularly in the entorhinal cortex, a brain region associated with memory and sense of time.