Some people eat, sleep and chew gum, I do genealogy and write...

Monday, March 28, 2016

Genealogy, Alzheimer's and DNA

Both of my parents died of dementia related conditions. My father had the classic symptoms of Alzheimer's Disease and my mother died of a condition known as Dementia with Lewy Bodies. I also suspect that my maternal grandmother and my maternal grandfather's mother all died from dementia related conditions also. In addition, my wife's mother also died from what we assume to be Alzheimer's Disease. All three of our parents had these conditions at the same time and died within a relatively short time of each other in care facilities after long declines. 

I worked closely with my father for the last ten years of his life. He and I were both attorneys and had been law partners for many years. The decline of our parents dramatically affected our family in many, mostly negative, ways. During all of this time, I was extremely active in genealogical research while I was still actively practicing law. I have been devoting full-time to genealogy since I retired from my law practice.

I have often reflected on the progression of the symptoms of Alzheimer's as experienced by my father. From time to time, I calculate his age when the symptoms first appeared and wonder if my own life will follow the same path. I am more acutely aware of this issue as I reach the same ages as my father did when those symptoms started to appear. In this regard, I have examined the death certificates for a number of my ancestors. For example, the stories told about my Great-grandmother seem to indicate she had a form of dementia. The cause of death recorded on her death certificate and signed by a doctor is "Brain Hemorrhage due to Arteriosclerosis due to Old Age." The duration of the brain hemorrhage was "1 week" and the duration of the Arteriosclerosis was 10 years. I suspect that the diagnosis of arteriosclerosis was really dementia.

The connection between the two conditions is far from settled. See the following:

Dolan, Hillary, Barbara Crain, Juan Troncoso, Susan M Resnick, Alan B Zonderman, and Richard J OBrien. 2010. “Atherosclerosis, Dementia, and Alzheimer’s Disease in the BLSA Cohort.” Annals of Neurology 68 (2): 231–40. doi:10.1002/ana.22055. “PubMed Central Link.” 2016. Accessed March 28.

As I now go back through my genealogically acquired collection of death certificates, I find other references to arteriosclerosis among my direct line ancestors. Another example is my paternal grandmother's father who died of Lobar Pneumonia after 1 to 2 years of arteriosclerosis general.

At the same time my parents were suffering from their decline, I was working at a large law firm that was extremely involved in elder law issues. Although not directly involved in the estate planning and care issues of the elder law practice, I was directly involved in elder abuse and disability cases. Part of my practices consisted of determining the mental state of people who were in possible abusive situations. Usually two of us from the law firm would interview potential clients to determine if they were actually being abused or exhibiting some signs of dementia or sometimes both. Subsequently, I spent more than ten years intensely studying anything I could find about dementia and Alzheimer's Disease particularly.

Today, I find myself living in and associating with an extensive community of older people. Tragically, because of my extensive practical background in dementia related conditions, I frequently detect these symptoms among my present peer group. Now, I am beginning to investigate the connection between Alzheimer's and my interest in genealogy. I am particularly interested to see if what I can find in my genealogical research casts any light on this subject. Perhaps, I can find a qualified investigator who would like to collaborate on this particular subject?

There is a suspected strong link between family history, heredity and Alzheimer's. Here is a quote from the Alzheimer's Association website.
Family history
Another strong risk factor is family history. Those who have a parent, brother, sister or child with Alzheimer’s are more likely to develop the disease. The risk increases if more than one family member has the illness. When diseases tend to run in families, either heredity (genetics) or environmental factors, or both, may play a role.
Genetics (heredity)
Scientists know genes are involved in Alzheimer’s. There are two types of genes that can play a role in affecting whether a person develops a disease—risk genes and deterministic genes. Alzheimer's genes have been found in both categories.
See the following:

However, I have also seen the following from the Alzheimer's Association that would lead me to believe that running out and getting a genealogically related DNA test has little to do with the issue of Alzheimer's.
Genetic testing
Genetic tests are available for both APOE-e4 and the rare genes that directly cause Alzheimer’s. However, health professionals do not currently recommend routine genetic testing for Alzheimer’s disease. Testing for APOE-e4 is sometimes included as a part of research studies.
I am not sure how helpful it is to know that you may have Alzheimer's risk factors. As I read the popular writing on the subject online, I find a lot of suggestions for activities that may help delay the onset of the disease, but many of these seem to be contradictory. I guess the main question I would ask is whether or not genealogy per se, can assist in understanding this condition. Perhaps I can use my blog to advance the thinking in this area?


  1. Since you're already assuming you have a predilection to Alzheimer's, testing positive for one of those gene mutations won't tell you anything you didn't already suspect. And then you can plan your future accordingly. But testing negative could give you (and your children) some piece of mind. It doesn't mean that you won't get Alzheimers, but it means a lower risk than you're thinking you have now.

    I feel strongly that we should leverage the family medical histories we are building when we gather death records to make smart decisions today. I found out personally how important it can be to have medical knowledge about oneself, even if it's information you'd rather not be true; I blogged about it here:

  2. 1/2 comments (split to fit character limit).

    I'd be happy to offer my expertise in dementia. While family history of Alzheimer's disease is a risk factor, that's usually the case for early onset (before age 60-65) more than typical or late onset (70s and 80s).

    When I started graduate school the prevailing thought was that health problems like atherosclerosis (in the old days was also called "hardening of the arteries") weren't really related to Alzheimer's disease (it was thought to be the cause of a different type of dementia called vascular dementia [although that's still being generous with what was thought]). Within the past 5-6 years there's been a recognition that cardiac issues and cerebrovascular disease not only can result in vascular dementia but also increase risk of Alzheimer's disease. Most cases of dementia seem to be due to Alzheimer's pathology and cerebrovascular disease (what we call a mixed pathology or mixed dementia). This is a significant change in our understanding of Alzheimer's disease.

    On a related note, your statement "that the diagnosis of arteriosclerosis was really dementia" is likely correct about your great-grandmother. The question is if it was small vessel vascular dementia, Alzheimer's disease, or a mixture of the two (or something else). Not that it entirely matters but Alzheimer's seems to be more genetic than vascular dementia (which can be partially genetic but is also strongly related to health behaviors).

    I don't know all of what this means for genealogy but extracting health histories from records (when it's known) would be beneficial to living descendants (so they know what they might be at risk of) and to medical researchers. I'm always interested in reading about what health challenges people had. Neurological disease could also explain some of the poor decisions people made - not to excuse behavior by speculation but to recognize that what we know now about the aging brain is much more advanced than what was known 30+ years ago. In the past these changes associated with aging were either not talked about, were chalked up to mood problems {when in reality the mood problems might have been secondary to the neurological problems}, put under the umbrella of "madness" or "senility" (a lot of problems are not caused just by getting old, they are caused by issues exacerbated by aging), etc. It's like the people who developed tempers when they got older or made some questionable choices - those were likely signs of some form of neurological disorder that developed (maybe even a tumor).

    Even if medical (including pathology) reports are available, if they are diagnostic rather than just descriptive, they have a chance of being quite wrong. Even so, it would be great to have cause of death and major medical problems as information that could be filled in on family trees. This could yield a wealth of data to medical researchers. This is also one of the stronger arguments for DNA testing for family history reasons - some health-related information is encoded in DNA.

  3. 2/2 comments

    The good that knowing this side of family history does to you specifically is how you can change your lifestyle (knowing how doesn't mean you will change it though).

    If you know you are at increased risk of Alzheimer's disease, for example, you can reduce that risk by reducing cardiovascular disease and subsequent cerebrovascular disease (eating healthier food, exercising, controlling blood pressure, controlling cholesterol, controlling or preventing diabetes, etc.). At some point Alzheimer's disease might still happen but it could be pushed back a few years or long enough that you die of something else before developing clinical symptoms.

    There are other diseases that are strongly genetic that would be good to know about. Some of them are treatable if caught early enough (e.g., some forms of leukemia), although these ones typically manifest early in life (e.g.,

    We are not entirely independent from the health of our ancestors. Some of their health challenges might be our health challenges (and partially because of their choices regarding health).

    1. Thanks for the extended explanation. We all need to think about this subject and become more aware. I have already changed both my diet and my lifestyle, by the way.

  4. I am just now reading your article and the responses. I know that while my mother died directly from Breast Cancer she did have dementia. It was something that none of us (children) recognized for quite some time. The more I think about her last 25 years the more I realize that that is about how long she was suffering from it. She was always happy, outgoing until the last 25 or so years. Then she didn't want to go anywhere and really didn't even spend much time talking on the phone when any of us would call her. They lived in Florida and only had 2 of their 7 children down there.
    My father had passed and she had one of my brothers living with her after dad died. The last year or two of her life she wouldn't go out to the grocery store, gave my brother a list and sent him shopping. He would even do the cooking because she had left burners on the stove.
    Towards the last 6 months or so we even had a terrible time trying to get her to the doctor for her check ups. Dementia is very hard to detect at the beginning. At least for those of us with no medical training.

    1. You are right. But you can refer to the stages of Alzheimer's on the Association website.

  5. See also: