“I think this raises a number of interesting questions. I don’t know that we have the answers.”For decades, neurologist Francisco Lopera at the University of Antioquia in Medellín, Colombia, has been caring for and following an extended family, many of whose members carry a tragically unlucky mutation in a gene called presenilin 1. The mutation is rare, and its effects are aggressive and predictable.
Yakeel T. Quiroz, director of the Familial Dementia Neuroimaging Lab at Massachusetts General Hospital, has worked with Lopera and these patients for 20 years. Scientists marvelled at the case, but also debated its relevance. This was only one person. Was it an aberration, or a path to follow? What could this one person reveal about how to fight Alzheimer’s in the broader population?The discovery of a second person with genetic resilience validates the quest, but also deepens the mystery.
The woman’s lack of tau tangles supported an alternate avenue for therapeutics. When the man travelled to Massachusetts to have his brain scanned at age 73, researchers found that he had both amyloid plaques and tau tangles associated with Alzheimer’s disease. But crucially, tau was relatively limited in his entorhinal cortex, which is essential for memory.
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