I have thought about this question a lot. Since so few actually have KD, has there ever been a study as to an original region of the world where this can be traced to? My other thought is how about surname research? I have been doing my own genealogy for about 35 years so ancestors have always been of interest to me.

I have yet to find anyone in my husbands' line other than his uncle whom probably has Kennedy's too. Not sure if I am following the gentics correctly?

Spouse> mother was carrier
Uncle >brother to spouses' mother so grandmother was a carrier.

Grandmom lived from 1907-2009 and showed no signs. She only had the two children a carrier and a male who has KD.

Would I next follow to grandmothers mother or her father? Seems to me grandmother would have been a carrier through her own mother?

If great-grandmother was a carrier, her surname was HIEAK or Hyek. She was born in Iowa. Her parents were from Bohemia, Czechoslovakia.
Her parents were a Hajek and a Divishek.

Anyone else with KD with this surname or area? Am I going back the right way? If not, where am which way does this gene take?

Thank you and maybe, just maybe figuring this out could help?

PS - I am here to help anyone who does not know how to trace their tree. You would need to private message me your parents, grandparents names, maiden names, birth dates, living or dead, where born and where they died. With this, I may be able to assist you for free. I have a couple paid memberships to diff. sites. I think it would be interesting if any KD families are related or from the same area of origins.

I will not release any info on anyone living, sending you back a private message if I find anything and then you decide if you post anything. Completely confidential and free. I am doing this only for those interested in this one particular reason, to link KD to families.

My husband was diagnosed about 7 years ago.

Lo, it is always interesting to look back in time at your family to see who had or possible had it.

Some time ago I asked the question (which came first the chicken or the egg) where did KD originate (it had to start somewhere).

One of our neurologist mentioned that the X-chromosome DNA is fragile and can mutate easily from a healthy gene. He mentioned that this is why is can start up in a family where no previous defect was noted.

Bruce, are you saying that it could just appear? Hum, so tracing back in the family won't work?

Lo, I have had similar thoughts as you and once tried to "trace" SBMA through my family tree.

However, because of the genetics of KD, I find it impossible to do past my great-grandmother, Clara Griffiths.

My maternal grandfather, Norwood Druck, had all the symptoms of KD, but died undiagnosed. Obviously, his mother, Clara, likely passed the gene to him. But, after that, I have to ask, was the gene passed to her from her mother or father? There is no way to know.

Then, if you add the wrinkle that Bruce mentioned, all hope of tracking SBMA through the generations is lost.

It is a very interesting question however and, it would be cool if we could find a common ancestor.

Hi Lo,
If you want to get really technical on your question, check out this paper, citation: "Multiple founder effects in spinal and bulbar muscular atrophy around the world", Eur J Hum Genet. 2001 Jun;9(6):431-6.

Turns out there is something called a "founder effect" where they can prove everyone with SBMA in a certain nation is related to a single ancestor. For example, they showed 41 SBMA patients they found in Norway, Sweden, and Finland were all related to a common ancestor; but 16 patients they found in Japan must have had two different ancestors. They determine that result by examining tiny similarities and differences in the chromosomes.

The researchers also found that the United States and Canada tend to have a greater number of founders, probably due to the history of immigration into those two nations over the centuries.

As for how the SBMA mutation gets started, Bruce is correct. Sometimes it is just a random error in the chromosome copying process. Other times it could be related to certain events such as exposure to radiation or certain toxic (mutagenic) chemicals.

It would be fascinating, but unfortunately very expensive, to take blood samples from KDA members and determine how many of us are related to the same founding mutation. Oh well, maybe the cost of genetic testing will come down in time.

I'm glad I'm not the only one with this thought! I guess this is WHY I am willing to try to research by Surnames and regions.

Dan, Interesting link, a little too technical for me so glad you summarized it.

Have to get a copy of Bobs' genetic results to see his CAG. Not sure we have a copy but we should, cost us a mint.

As for genetic testing, costs are coming down. Maybe a researcher will get a grant and ask you guys to take a test? Ancestry just started offering a new DNA test that will see more from a female then before. I am on the waiting list as up till now didn't have a full blooded male to take it and for females it was pretty much useless info.

Even if everyone just posted where their Ancestors originated, we may see a trend?

Thanks for the thoughts. As a wife I get to feeling helpless but read all I can!

Lo, no, I am not saying it won't work. This just adds another wrinkle to it. It would be nice to say that everything can be linked back to a single source, but if the CAG repeat gene is not as stable as initially thought, it could also mean it started in a particular family only one or two generations ago.

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As I posted to your blog, do you think this could disappear just as it appeared? Just a thought. Very strange how genes work....

Lolo, yes it has happened. There are cases where the father only had sons or the mother only passed along good X chromosomes.

On Bobs side:
His uncle has either (mothers' brother) Kennedy's or ALS (we lean to Kennedy's as it has been about 15 years) Yet no others we know have anything. It will be interesting to see if the gene is carried by either of Bobs sisters as they both have 2 sons and one has a daughter with 3 sons. We may not be here once anything shows up, but hopefully by then a cure or medication may exist for them.

My husband also has 3 brothers, none who show anything at this time.

The ancestors were mostly farmers in Iowa. Maybe they handled some nasty chemicals? His grandfather was a builder but seems that wouldn't matter as his wife was a carrier.

Anyone else have farmers for ancestors?

I'll throw anything out here that could assist in research.

Bruce, thank you for your most recent blog. When I was diagnosed four years ago, my mother related to me a story that at two years old, my grandfather was exposed to gas from WWI (there is disagreement between her and her siblings if it was nerve, mustard, or chlorine gas) and was pronounced dead at his home by a doctor, but upon arrival to the hospital was revived.

My mother has often wondered whether that event could have cause the SBMA mutation in our family.

Many family and friends, including a couple of doctors told her it was not possible.

Of course we will never know for sure, but at least now she knows it is a possibility.

Dan, I just scrolled up the posts and realized that Bruce was quoting you in his blog.

Thank you for sharing this information.

I have not taken the tracing beyond my maternal grandfather. In his case the diagnosis was ALS but he lived longer than expected. As for his siblings it has been confirmed only for a much younger sister. I met one of her sons, a second cousin, at last year's conference.
In my family my sister is a carrier and my oldest nephew has been confirmed to have KD.

Pocatello Jim, the "doctors" who talked to your mother were speaking with much knowledge of poison gas, which of course is an obscure subject. Certain gases, including mustard gas, are known to cause genetic mutations. I suggest you print out the following sources and show them.

The problem with doctors is we go to them as experts, therefore they hate to admit they don't know something. Many doctors are honest, but I have personally run into a few who just couldn't bring themselves to give an honest answer of "I don't know."

Check out Ann Plast Surg. 1987 Oct;19(4):330-3.

quote:

Based on a study of the literature and our own experience treating fisherman poisoned by mustard gas, this article outlines the clinical effects, and toxicological and mutagenic properties of the agent. Mustards are very persistent chemical agents that easily penetrate clothing. As mustard gas is an alkylating substance, it is conceivable that the risk of developing cancer may be increased, as observed in people who were involved with the production of mustard gas and in animals exposed to the gas. Also, transient significantly increased sister chromatid [chromosome] exchange rates have been found in fishermen exposed to mustard gas.

Also have a look at http://www.inchem.org/document...ppl7/mustardgas.html

quote:

Evidence of covalent binding to cellular DNA, RNA and protein in vivo was obtained in mice injected intraperitoneally with 35S-labelled mustard gas. It induced chromosomal aberrations and DNA damage in rodent cells in vitro and mutation in mouse lymphoma cells in vitro and in a host-mediated assay. It induced aneuploidy, heritable translocations, dominant lethal mutations and sex-linked recessive lethal mutations in Drosophila. It was mutagenic to fungi and induced DNA damage in bacteria.

As you may know, the gene that causes SBMA is a sex-linked recessive one. So there you have it. It's quite possible that mustard gas could cause a mutation, but of course there's no way to be certain that it caused the mutation in your family.

This message has been edited. Last edited by: Dan B,