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# Tuesday, June 02, 2009
Neurologist Uses Genealogy to Track Rare Disease
Posted by Diane

I came across an interesting article today about a neurologist who used genealogy research to trace a rare inherited disease that affects just five families around the world.

Pallido-Ponto-Nigral-Degeneration (PPND) strikes in middle age, causing symptoms similar to Parkinson’s and Alzheimer’s. Victims usually are dead within eight years.

Examining WWII-era records in a hospital basement, Dr. Zbigniew K. Wszolek discovered that two US families with the condition were linked through adoption. The common ancestor: Sarah Bott, born in 1854 in Iowa.

Her parents and grandparents lived to a ripe old age, as did her husband and his children from a second marriage. But four of Bott's five children were crippled and died in middle age (Bott herself died at age 30 in surgery). Wszolek concluded the disease-causing mutation occurred spontaneously in Bott.

Wszolek tracks the family on an 11-foot family tree. Of Bott’s 315 living descendants (spread out over 11 states), 48 now have PPND.

See more on Wszolek’s research in this article.

Another article focuses on the family members in Montana and how they’re coping.

Look for information on researching your family's medical history in an upcoming issue of Family Tree Magazine.

Here are some family health history online resources you can explore right now.


Genetic Genealogy
Tuesday, June 02, 2009 5:13:52 PM (Eastern Daylight Time, UTC-04:00)  #  Comments [2]
Friday, June 05, 2009 1:58:43 AM (Eastern Daylight Time, UTC-04:00)
Wow. This story is so sad and really makes you think. The accompanying story about how the family is dealing with it and whether or not to be tested or to reproduce is sobering. It really illustrates the chasm between our ability to diagnose a problem and our ability to fix a problem. Thanks for posting the story.
Wednesday, July 29, 2009 11:24:14 AM (Eastern Daylight Time, UTC-04:00)
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