In Life, She Defied Alzheimer’s. In Death, Her Brain May Show How

"A woman in Colombia with a rare genetic mutation recently made the ultimate dontation to science." 

Aliria Rosa Piedrahita de Villegas had a rare genetic mutation that made it almost certain that she would develop Alzheimer's disease in her 40s. However, she did not begin experiencing symptoms until the age of 72. On November 10, she died from cancer, but the good news is that her dementia was not significantly advanced at the time, 

Neuorology investigators from the University of Antioquia in Medellin. have been closely studying Villega's and her family members in attempts to learn more about early-onset Alzheimer's disease. They found that there were several people whose disease did not develop until their 50s or 60s, which is a later development than expected. 

Although there were several outliers, they say none were as "medically remarkable" as Villegas, whom they knew as doña Aliria. 

Aliria had traveled to Boston where investigators conducted nuclear imaging studies of her brain "as part of an ongoing study of this Colombian family, the largest in the world with genetic early-onset Alzheimer's." 

The investigation revealed that Aliria had exceptionally large quantities of amyloid beta, which is a protein normally found in Alzheimer's patients. The researchers found that "something had interrupted the usual degenerative process, leaving her day-to-day functioning relatively preserved." 

Researchers at Harvard Medical School stated that although Aliria "carried a well-known mutation, unique to Colombia, that causes early Alzheimer's, she also carried two copies of another rare mutation that appear to have thwarted the activity of the first one." 

If researchers can unlock the secret to why Aliria's brain was able to fight off Alzheimer's for so long, it would be a very important discovery and a huge step forward against Alzheimer's. 

See Jennie Erin Smith, In Life, She Defied Alzheimer’s. In Death, Her Brain May Show How, N.Y. Times, December 11, 2020. 

Special thanks to Lewis Saret (Attorney, Washington, D.C.) for bringing this article to my attention.