Emily
Editor, Senior Moderator
The first known case was in 1954.
http://www.menafn.com/menafn/e20cca6d-3abe-4ddc-af61-04ec12967c02/Arlington-man-died-of-extremely-rare-disease?src=main
http://www.menafn.com/menafn/e20cca6d-3abe-4ddc-af61-04ec12967c02/Arlington-man-died-of-extremely-rare-disease?src=main
Arlington man died of extremely rare disease
ARLINGTON, May 13, 2012 (Fort Worth Star-Telegram - McClatchy-Tribune Information Services via COMTEX) -- Scott Kneedler was destined to die early.
The former American Airlines mechanic was born with Pallido-ponto-nigral degeneration, a genetic disease known to affect only five families in the world.
His body emaciated but his mind sharp, Kneedler died April 23 at 41, the latest in eight generations of Americans to succumb to the disease and probably the first in Texas.
[snip]
He has learned that it is caused by a mutation on the 17th chromosome. Those with a parent carrying the faulty gene have about 1 chance in 2 of inheriting it, Wszolek said.
[snip]
Wszolek says the need for more research is vital. "We need that in order to take this to the next level. This is a matter of life and death."
'Guinea pig'...