Of All the Diseases To Be Named After Your Family

Thanks to Amazon.com’s amazing new “full keyword search of books” service, I stumbled across a reference to disease called Rukavina type familial amyloid p. Also called Indiana type, presumably becuase so many of our kin settled there, the disease is described as follows:

Indiana type familial amyloid polyneuropathy, a slowly progressive form of familial amyloid polyneuropathy with upper limb neuropathy in the distribution of the median nerves, leading to carpal tunnel syndrome and eventually trophic ulcers; ocular symptoms such as vitreous deposits may occur. Called also Rukavina type familial amyloid p., Maryland type familial amyloid p., and Rukavina’s syndrome.

What’s the chance that a syndrome that leads to carpal tunnel syndrome would be named after my family? Amazing. And decidedly unpleasant sounding. I’ll have to give someone in the Indiana branch of the family a call for practical details.


Oliver B's picture
Oliver B on October 23, 2003 - 21:38 Permalink

I guess you have to be a former neuroscientist. I for one think the disease sounds pretty cool. Involves an extremely fashionable pathology (amyloid) without carrying nearly so awful a consequence as the average neurodegenerative disease. I think you scored big. Hold your head up high, and try to suppress the spasms in your fingers.

Oliver B's picture
Oliver B on October 23, 2003 - 22:47 Permalink

Bizarre! They treat people with certain familial amyloid polyneuropathies by giving them a new liver! Who’da thunk! Oh, it’s because the liver makes transthyretin (a protein famous for clumping into amyloid placques). Well, anyway I still think that’s pretty exotic. Congratulations, Peter.

Oliver B's picture
Oliver B on October 23, 2003 - 23:03 Permalink

” was observed by Rukavina et al. (1956) in many members of a religious sect of Swiss origin living in Indiana…” Results from “substitution of serine for isoleucine at position 84” in transthyretin. More at http://www.ncbi.nlm.nih.gov/en…