Is There a New Genetic Form of Dementia?

Q. I read your recent newsletter from this past Tuesday about this year’s scariest articles, and I think I have a topic to add. I heard that there is another new form of dementia that was just discovered that affects behavior, language, and executive functioning. Sounds pretty scary to me. Have you heard about it, and if so, can you share more information? Thanks for your help! Happy Halloween.

A. Scientists have been puzzled by patients with proteins that are typical biomarkers of Alzheimer’s disease, but with symptoms that are completely atypical of the disease. Now researchers say they have an explanation: another newly defined form of dementia that affects behavior, language, and executive functioning has emerged.

Last year, a disease called LATE was discovered, with symptoms similar to Alzheimer’s but caused by a different misbehaving protein. With LATE, the brains of people who develop the disease don’t contain the protein amyloid beta similar to Alzheimer’s, which causes plaques to develop between nerve cells, or tau, which grows tangles that clog the interiors of cells, eventually killing them. Read more about LATE in my article about it.

A Rare and Genetic Form of Dementia Has Been Uncovered by Scientists

This past month, researchers at my alma mater, the University of Pennsylvania, discovered another new and rare genetic form of dementia, which they have called vacuolar tauopathy (VT). Scientists have found that the progression of symptoms in VTdiffer from that of dementia caused by Alzheimer’s disease. Where Alzheimer’s disease is focused on memory issues early in the disease, VT primarily affects behavioral, language and executive problems instead. Scientists are excited about this discovery, as it sheds light on a new pathway that leads to protein build up in the brain, which could be targeted for new therapies.

Symptoms of vacuolar tauopathy include subtle changes in the beginning such as agitation, aggression, loss of impulse control, and poor judgement. With time, language difficulties and cognitive issues also begin to show.

Research that Led to the Discovery of VT

Led by Edward Lee, MD, an assistant professor of pathology and laboratory medicine at the University of Pennsylvania Perelman School of Medicine, the research has focused on a family in the United States and a family in Greece that exhibited signs of a new genetic mutation. Although Dr. Lee only became involved with the research four years ago, the family in the United States was followed since 2010. For the family who lives in Greece, three of three siblings have dementia with similar symptoms that differed from other known types of dementia. “It has kind of been a mystery, what they had,” Dr. Lee said. “They were grasping answers and were trying to understand what was going on in their family.”

“So, there was this genetic mutation and researchers were thinking that maybe it’s causing another disease,” Dr. Lee said. “But it’s not really until we did the autopsy [for one of the deceased family members that participated in the study] that we realized, ‘No, there’s something completely different going on here.’”  It was discovered that those with VT have a build-up of a protein called tau inside their neurons, and that this is leading to neurodegeneration. The tau protein is very similar to the tau aggregates that scientists see in Alzheimer’s disease, yet are causing a different variation of dementia.”

“We want to understand that better,” Dr. Lee said. The scientists hope that the discovery of rare genetic forms of dementia, such as vacuolar tauopathy, with similarities to the biomarkers that cause Alzheimer’s, can shed light on more common forms of dementia. In this case, Dr. Lee said that “this rare form of dementia could help researchers further understand Alzheimer’s disease.”

What to Do if You Have Memory Problems?

Are you noticing memory problems or other behavioral or executive functioning problems, such as those described above, in your everyday life? We’ve all forgotten a name, where we put our keys, or if we locked the front door. It’s normal to forget things once in a while. But serious memory problems make it hard to do everyday things. Forgetting how to make change, use the telephone, or find your way home may be signs of a more serious memory problem, and shouldn’t be ignored.

Forgetfulness: Normal or not?

For some older people, memory problems are a sign of mild cognitive impairment, Alzheimer’s disease, or a related dementia. People who are worried about memory problems should see a doctor. Signs that it might be time to talk to a doctor include:

asking the same questions over and over again;
getting lost in places a person knows well;
not being able to follow directions;
becoming more confused about time, people, and places; and/or
not taking care of oneself—eating poorly, not bathing, or acting unsafely.


Tips for Dealing with Forgetfulness

People with some forgetfulness can use a variety of techniques that may help them stay healthy and help them deal with changes in their memory and mental skills. Here are some tips from the National Institute of Health:

Learn a new skill;
Stay involved in activities that can help both the mind and body;
Volunteer in your community, at a school, or at your place of worship;
Spend time with friends and family;
Use memory tools such as big calendars, apps, to-do lists, and notes to yourself;
Put your wallet or purse, keys, and glasses in the same place each day;
Get lots of rest and a good night’s sleep;
Exercise and eat well;
Don’t drink a lot of alcohol; and
Get help if you feel depressed for weeks at a time.


Again, if you have symptoms of Alzheimer’s or another form of dementia, be sure to make an appointment with your doctor to get screened and discuss next steps.

Medicaid Planning for Alzheimer’s, VT, and Other Types of Dementia

Dementia is the most challenging health and social care challenge of our generation, and a diagnosis of the disease is always life-changing. When it comes to legal planning for long-term care, generally the earlier someone with dementia plans, the better the result. But it is important to know that it’s never too late to begin the process of Long-term Care Planning, also called Life Care Planning, Medicaid Asset Protection Planning, or just Medicaid planning. This type of planning can be started by an adult child acting as agent under a properly-drafted Power of Attorney, and can even be started if your loved one is already in a nursing home or receiving other long-term care services. If you have a loved one who is suffering from any type of dementia, please feel free to call us for an initial consultation:

Medicaid Planning Fairfax: 703-691-1888
Medicaid Planning Fredericksburg: 540-479-1435
Medicaid Planning Rockville: 301-519-8041
Medicaid Planning DC: 202-587-2797

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About Evan H Farr, CELA, CAP

Evan H. Farr is a 4-time Best-Selling author in the field of Elder Law and Estate Planning. In addition to being one of approximately 500 Certified Elder Law Attorneys in the Country, Evan is one of approximately 100 members of the Council of Advanced Practitioners of the National Academy of Elder Law Attorneys and is a Charter Member of the Academy of Special Needs Planners.