Information about PPND (Pallido Ponto Nigral Degeneration) disease discovery and course,
A curious doctor...
PPND (Pallido Ponto Nigral Degeneration) disease was discovered in the late 1980’s by neurologist, Dr. Zbigniew Wszolek, a Polish immigrant. While completing his residency in Omaha, Nebraska, he examined a man who had been diagnosed with Parkinson’s disease. During the patient's visit with Dr Wszolek, he related that his mother, sister and uncle had died from the same symptoms. Since Parkinson’s disease at that time was not believed to be inherited, Dr Wszolek was surprised to get this positive family history and he began to laboriously unravel the man’s geneology, which eventually led him to Sarah Bott.
It was Sarah Bott Newell, born in Iowa in 1854, who first bore the genetic mutation. Sarah died in 1884 and is buried in Unionville, MO. At least four of her five children inherited the disease. Affected family
members are now scattered across several states. PPND affects the brain’s
ability to produce and/or sustain tau protein, the protein that “supports” nerve
cells in several key areas of the brain. An affected individual must have had a
parent who carried it. If an affected person has children, his/her children
have a fifty/fifty chance of inheriting it. PPND cannot "skip" a generation.
Once symptoms appear, usually in the
early forties, but may be as late as age 52, the average life expectancy is
eight years. The affected individual will exhibit continuously deteriorating
mental and physical capabilities over this time.