Can a Rare Brain Change What We Know About Early-Onset Alzheimer’s?

Aliria Rosa Piedrahita de Villegas carried a rare genetic mutation making it extremely likely that she would develop Alzheimer’s disease in her 40s, like most others in her family with this genetic mutation. Something unexpected happened with Aliria though–she defied the odds and did not develop Alzheimer’s until she was 72. Six years after her diagnosis, Aliria’s Alzheimer’s hadn’t advanced much, but sadly, she died of cancer. Scientists are now pondering whether her situation changes what they know about the genes that cause genetic early-onset Alzheimer’s.

Thirty Years of Research Studies Involved Aliria and her Family

For thirty years, Aliria and her family members had been followed by researchers from the University of Antioquia in Medellín in hopes of unlocking the secrets of early-onset Alzheimer’s disease. In that time, they encountered several people whose disease developed later than expected, in their 50s or even 60s. But none were as medically remarkable as Aliria.

In recent years before she died, Aliria traveled to Boston, where researchers at Massachusetts General Hospital conducted nuclear imaging studies of her brain as part of an ongoing study of her family — the largest in the world about genetic early-onset Alzheimer’s. In Boston, it was discovered that Aliria had large quantities of one protein seen in Alzheimer’s — amyloid beta — without much of the other, known as tau, which is the toxic protein that spreads as the disease progresses. In Aliria’s case, something had interrupted the usual degenerative process, leaving her day-to-day functioning relatively preserved.

Last year, researchers at Harvard Medical School and the University of Antioquia published the findings that while Aliria carried a well-known mutation 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. Since then, investigators worldwide have been studying what is known as the “Christchurch Mutation,” a variant that can affect a person’s risk of developing Alzheimer’s. If the protective effect of Aliria’s double Christchurch Mutation can be replicated, a new avenue for desperately needed therapies could open.

Scientists Study Aliria’s Brain Post-Mortem

Post-mortem studies to learn how dementia affects the brain have been a huge part of Alzheimer’s research since 1906, when Dr. Alois Alzheimer, a German psychiatrist and brain anatomist, shared findings from a patient who died at 55 after a severe, progressive dementia that would now be called early-onset Alzheimer’s disease.

Similar to many families who have lived with early onset Alzheimer’s for countless generations and remain eager for a breakthrough, Aliria’s children — two daughters and two sons — had agreed to donate their mother’s brain for study when she died. Her daughter Rocío Villegas-Piedrahita said that her mother was aware that her brain would be donated to science, “and she was fine with it.” The University of Antioquia now holds some 400 brains, most of them from people who have died with genetic, early-onset Alzheimer’s.

Scientists and family members believe that Aliria would likely have lived much longer if not for her cancer. Rocío said it seemed to her that Alzheimer’s research — drug research, especially — had stagnated. “The death of my mom, as sad as it is for us, may have opened many doors,” she said.

Scientists Must Act Quickly to Study Aleria’s Brain

Brain tissue deteriorates quickly, and samples must be fixed in preservative or frozen within a few hours to be useful. Once received, Alzheimer’s researchers placed Alaria’s brain on a scale and it weighed 894 grams, just under two pounds — considerably less than a healthy brain. The brain’s low weight struck scientists as curious given that Alaria’s symptoms were not yet so advanced. In fact, in the months before her death, she still recognized her family and friends, still cooked her own meals and bathed herself, and had no trouble recalling words including “neuroscience” and “coronavirus.”

Findings Are Still Being Evaluated

Since Aliria died last month, scientists haven’t offered a hypothesis about this brain or what they might find. “But it was a matter of scientific due diligence to explore it,” researchers said. “She was a very important patient; her story made news all over the world. We learned a lot from her — and now that she’s died, it’s on us to make sure we give it a careful look.” We’ll certainly provide an update if we hear about any important developments in this study!

A lot is Still Unknown About Early-Onset Dementia

A growing number of people in midlife are being diagnosed with early-onset dementia, an atypical form of the degenerative disease. Unlike typical Alzheimer’s, which generally occurs in older people, these are rarer dementias, including: bvFTD; a frontotemporal dementia variant that leads to language disturbances called primary progressive aphasia; a visual and spatial dementia called posterior cortical atrophy; Lewy body dementia; and early-onset Alzheimer’s in people with no family history.

Similar to other forms of dementia, early-onset dementia is incurable. These conditions typically show up in people in their 50s and 60s, sometimes even earlier and sometimes a bit later. No one knows whether these conditions are becoming more common or doctors are better at diagnosing them. The National Institute on Aging suspects that these early-onset dementia cases represent about 5% of the total number of Alzheimer’s patients.

Do You or a Loved One Have Dementia? — The Time to Plan is Now!

Persons with Alzheimer’s and other forms of dementia, such as early-onset dementia, and their families face special legal and financial needs. At the Farr Law Firm, we are dedicated to easing the financial and emotional burden on those suffering from dementia and their loved ones. We help protect the family’s hard-earned assets while maintaining your loved one’s comfort, dignity, and quality of life by ensuring eligibility for critical government benefits such as Medicaid and Veterans Aid and Attendance. If you or a loved one is suffering from Alzheimer’s or any other type of dementia, please call us as soon as possible to make an appointment for an initial no-cost consultation:

Elder Care Attorney Fairfax: 703-691-1888
Elder Care Attorney Fredericksburg: 540-479-1435
Elder Care Attorney Rockville: 301-519-8041
Elder Care Attorney DC: 202-587-2797

 

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About Renee Eder

Renee Eder is the Director of Public Relations for the Farr Law Firm, and gives the voice to the Critters of Critter Corner. Renee’s poodle, Penny, is an official comfort dog who she and her children bring to visit with seniors who are in the early stages of dementia at a local senior home once a month.

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