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.
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It turns out that
It turns out that silverorange is in a book too. Sweet!
I guess you have to be a
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.
Bizarre! They treat people
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.
” was observed by Rukavina et
” 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…
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