5 ms·
> For nearly 40 years, neurologist Francisco Lopera at the University of Antioquia in Medellín, Colombia, has been following an extended family whose members de
by astrange 4y ago
> For nearly 40 years, neurologist Francisco Lopera at the University of Antioquia in Medellín, Colombia, has been following an extended family whose members develop Alzheimer’s in their forties or earlier. Many of the approximately 6,000 family members carry a genetic variant called the paisa mutation that inevitably leads to early-onset dementia.
Does he, like, tell them? Do they tell people they're dating? It's not clear how this perpetuates.
- anitil 4y agoI remember a podcast where I believe a lady could smell Alzheimers (or possibly Dementia) years before it showed any symptoms. I have no idea how real it is, but the ethical dilemma is similar. She decided never to tell anyone if my memory is correct Found it! The ethical question isn't in the transcript as far as I can see, maybe my memory deceived me - https://www.npr.org/2020/03/23/820009335/invisibilia-an-unlikely-superpower https://www.npr.org/2020/03/23/820009335/invisibilia-an-unli...
- ronyeh 4y agoYeah, she could smell Parkinson's. I believe it. Dogs can smell all sorts of things humans cannot, and it is possible that a human mutation could grant her such a gift (or curse). My wife and I smell different scents with differing sensitivities, so I can believe it. (I still remember the smell of roaches from when I was a young child.) https://www.npr.org/sections/health-shots/2020/03/23/820274501/her-incredible-sense-of-smell-is-helping-scientists-find-new-ways-to-diagnose-di https://www.npr.org/sections/health-shots/2020/03/23/8202745... But then one day, about 10 years into the marriage, when Les was 31, he came home, and strangely, Joy says, he smelled different. "His lovely male musk smell had got this overpowering sort of nasty yeast smell," she says.
- femto 4y agoThis smell observation has prompted the development of predictive tests for Parkinson's. New results eight days ago. https://pubs.acs.org/doi/10.1021/acscentsci.2c01468 https://pubs.acs.org/doi/10.1021/acscentsci.2c01468 https://www.smh.com.au/national/nsw/how-smelly-t-shirts-and-ai-helped-unlock-secret-to-detecting-parkinson-s-disease-20230510-p5d7bm.html https://www.smh.com.au/national/nsw/how-smelly-t-shirts-and-...
- thaumasiotes 4y ago> But then one day, about 10 years into the marriage, when Les was 31, he came home, and strangely, Joy says, he smelled different. This is interesting by itself. It suggests that part of the onset of Parkinson's involves a large, rapid change taking place somewhere.
- graeme 4y agoThere’s evidence that Parkinson’s, Alzheimer’s may be due to viral infections or brain inflammation, and the plaques are evidence of the damage. So possible that process begins suddenly. Whatever the cause you’re right that is quite interesting
- stef25 4y agoYesterday an article was published showing a strong link with trichloroethylene. Apparently some of Fort Bragg's drinking water was contaminated with it and the incidence of Alzheimer's among soldiers being present there was way high.
- bigmattystyles 4y agoI can smell asparagus in pee so easily, no one else in the house can though - it's so funny and interesting.
- elboru 4y agoI can smell coffee, not sure how common that is, I have never asked anyone. :D
- j33zusjuice 4y agoVery
- afarviral 4y agoReally! My piss must really stink then... bzzzzz
- carlmr 4y agoIIRC for asparagus it's a common mutation to be able to smell it or not.
- deleted 4y ago[deleted]
- stef25 4y agoAsparagus, coffee, modafinil are all so easy to detect as smells in urine. Weird that some can't.
- selcuka 4y agoShe actually says that telling it is the better idea [1]: > She told BBC Scotland that not knowing Les had Parkinson's put her family in a "negative spiral". > "What if we did know?," she said > "It would have changed things dramatically. [1] https://www.bbc.com/news/uk-scotland-47627179 https://www.bbc.com/news/uk-scotland-47627179
- deleted 4y ago[deleted]
- jeromegv 4y agoPeople can choose to give a blood sample for the study, but they are not being told if they carry the mutation. I’m unclear if they even tell people they have found through the genealogical tree (that did not provide a blood sample) that they are part of it. The Spanish speaking podcast Radio Ambulante covered the story few years ago. Here’s an English transcription of it https://radioambulante.org/en/transcripcion/the-paisa-mutation-translation https://radioambulante.org/en/transcripcion/the-paisa-mutati...
- echelon 4y ago> they are not being told if they carry the mutation. I would want to know.
- usernew 4y ago[flagged]
- joe_the_user 4y agoThey can't all be fairyland freaks. I think your post violates a number of HN guidelines.
- usernew 4y ago[flagged]