04 June 2009

Genealogy tracks rare disease

Genealogy Insider posted a fascinating piece on how a neurologist used genealogical resources to track a rare genetic disease found in just five families globally.

Pallido-Ponto-Nigral-Degeneration (PPND) strikes its middle-aged victims with symptoms similar to Parkinson's and Alzheimer's; they usually die within eight years.

The discoverer, Dr. Zbigniew K. Wszolek was a board-certified neurologist in Poland before he came to the US, and was repeating his residency in Omaha, Nebraska for his American credentials.

Sarah Bott, born in 1854 in Iowa, seems to be the common ancestor.

The story was in Montana's Great Falls Tribune:

Though the nerve damage caused by the faulty gene is similar to that of Alzheimer's, a disease affecting millions of Americans, there are only five families in the world burdened with the similar but rare affliction that Sarah Bott's family inherited. The American family is by far the largest.

The other four families — one French, two Japanese and one Irish-American family discovered just last year — have no genetic link to each other or to the American family.

In the United States, Dr. Zbigniew K. Wszolek has traced this unfortunate legacy back to 1854, when Bott, an Iowa farm girl, was born.

Now, eight generations removed, the affected family lives in 11 states —Washington, Idaho, Montana, Arizona, Iowa, Illinois, Pennsylvania, New York, Florida, Kansas and Missouri.

Wszolek, a neurologist, traced the family back to the 1730s in colonial Virginia and hoped he'd trace it back to Europe.

"But I suddenly realized that Sarah Bott's parents both died in old age. All fourgrandparents all lived long lives," Wszolek said.

The doctor knew the disorder was autosomal dominant, meaning that one parent of the affected individual must have been the carrier, and if they had lived long enough, would have died from it. Symptoms appear around age 43.

Wszolek investigated Sarah's husband, Samuel Newell, who remarried after she died and had a second family. Samuel, his parents and his children all lived long lives, which meant that the genetic glitch had occurred with Sarah. She died in surgery at age 30 and did not live long enough to see the symptoms, although four of her five children were crippled in middle age and died a few years later.

In 1987, a distant relative of the Montana family appeared in Wszolek's Nebraska office.

Diagnosed with Parkinson's, the medications normally prescribed weren't working for the man and he went to Wszolek for a third opinion. He learned that the man's sister, his mother and uncle died of the same symptoms, and the doctor became curious, as Parkinson's is rarely hereditary.

"So I started in my spare time to investigate this family," he said. "I had four generations with four affected — very tiny pedigree," Wszolek said.

He traveled to Arizona to look at the uncle's autopsy; he examined the Mormon genealogy archives in Salt Lake City. He also contacted the University Hospitals in Iowa City, where he discovered a grandmother had died in 1942, but officials told him that her medical records had been lost.

As his patient continued to crumble, Wszolek seemed to be at a standstill. Then a University of Iowa doctor told Wszolek he was treating a woman with similar symptoms who also had several family members plagued by this mystery brain disease.

Wszolek couldn't link them genetically, but his fascination with this case led him to turn down a neurology fellowship in the UK, and instead he went to the University of Iowa.

In the basement of University Hospitals, Wszolek found the grandmother's records. She was adopted and had grown up with the name Jones, but her biological mother was Sarah Bott. He cross-checked his colleague's patient's records and found that Sarah was her great-grandmother. The family tree went from 20 to more than 300 people.

The doctor began spending his vacations and weekends travelling the country, mapping the family and documenting victims on an 11-foot family tree. There are today 315 living descendants in 11 states; 48 have PPND.

Read the complete story here, and learn how readers can assist with the research by contributing to a fund to cover research trips to Mayo Clinics in Minnesota and Florida. Click here for a related story on how the Montana relatives are living with this.

Read the Genealogy Insider blog post for online family health history resources.


  1. 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.

  2. The family was lucky to find a doctor that kept working the case genealogically to find answers. Dealing with such a situation is very difficult within the family as individuals make personal choices. Thanks for writing, Becky!

  3. Anonymous6:46 PM

    My sister in law has just been diagnosed with ppnd. She was related to the Newells. Her mother passed away from the same thing. If anyone has heard of any treatment that can help please contact maveri33@aol.com