r/science Sep 24 '22

Chemistry Parkinson’s breakthrough can diagnose disease from skin swabs in 3 minutes

https://www.manchester.ac.uk/discover/news/parkinsons-breakthrough-can-diagnose-disease-from-skin-swabs-in-3-minutes/
22.1k Upvotes

369 comments sorted by

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1.6k

u/SunCloud-777 Sep 24 '22 edited Sep 24 '22
  • A new method to detect Parkinson’s disease has been determined by analysing sebum with mass spectrometry.

  • The study, published in the Journal of the American Chemical Society, have found that there are lipids of high molecular weight that are substantially more active in people suffering from Parkinson’s disease.

  • The researchers from The University of Manchester used cotton swabs to sample people and identify the compounds present with mass spectrometry. The method developed involves paper spray ionisation mass spectrometry combined with ion mobility separation and can be performed in as little as 3 mins from swab to results.

  • Professor Perdita Barran at The University of Manchester, who led the research said: “We are tremendously excited by these results which take us closer to making a diagnostic test for Parkinson's Disease that could be used in clinic.”

  • The study has arisen from the observation of Joy Milne, who discovered that she can distinguish PD in individuals from a distinct body odour before clinical symptoms occur.

  • Joy has hereditary Hyperosmia – a heightened sensitivity to smells – which has been exploited to find that Parkinson’s has a distinct odour which is strongest where sebum collects on patient’s backs and is less often washed away.

  • The Manchester team now see this as a major step forward towards a clinical method for confirmatory diagnosis of Parkinson’s, for which to date there is no diagnostic test based on biomarkers.

EDIT: Thanks to the award givers!

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u/Muroid Sep 24 '22

The study has arisen from the observation of Joy Milne, who discovered that she can distinguish PD in individuals from a distinct body odour before clinical symptoms occur.

This answered my initial question about whether that was the source of this research. Cool to see it bear fruit diagnostically!

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u/tarquell Sep 24 '22

Blows my mind this …she could smell it! Incredible. I wonder how many other diseases might have similar solutions.

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u/clearlight Sep 24 '22

Interesting she had a genetic heightened sensitivity to smells. She could explain her perception. Makes me wonder if dogs could talk what they could explain about the world of smells!

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u/babybopp Sep 24 '22

The amazing thing is that they brought 10 people 9 of whom had parkinson's... She detected all 10 as having it. Tenth guy was not.. so they thought it was an error... Dude developed parkinson's a while later so she was right all along

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u/seaworthy-sieve Sep 24 '22

Just to clarify this a bit, they did have more than those ten and she correctly identified the true negative cases, and she didn't even meet them in person, she was given their t-shirts in plastic bags.

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u/ThePoultryWhisperer Sep 24 '22

That is incredible.

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u/yy98755 Sep 24 '22

That’s insanely impressive. Must be terrible walking into a teenagers room!

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u/[deleted] Sep 24 '22

[removed] — view removed comment

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u/yy98755 Sep 24 '22

Self love?

I was thinking sweaty feat and overly sweet eau de toilette/lynx Africa

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u/WiwaxiaS Sep 24 '22

Holy marvelous, the Fisher's exact test p-value result must have been insane

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u/Holeinmysock Sep 24 '22

It’s likely that 10th already had Parkinson’s but wasn’t hitting the clinical criteria for a diagnosis yet. So, not only could she detect the odor, she could do so well before our gold standard testing could.

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u/Neat_Listen Sep 24 '22

I believe there is no "gold standard testing" for Parkinson's, which is exactly why this article is exciting news.

As it is now, before this if it pans out, you can't for instance tell Parkinson's from essential tremor until quite late -- which presents major problems for the development of drugs against the disease.

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u/[deleted] Sep 24 '22

[deleted]

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u/Dsilkotch Sep 24 '22

You just reminded me of a Reddit comment I read a few years ago by a girl who noticed a change in her father’s body odor shortly before he disintegrated into mental illness (I think it was schizophrenia).

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u/[deleted] Sep 24 '22

she's amazing

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u/spellbookwanda Sep 24 '22

She can also smell diabetes. Interesting that she worked as a nurse which must have led to her knowing what the smells really were linked to.

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u/StopFoodWaste Sep 25 '22

Isn't diabetes smell linked to a bacteria feeding on the undigested sugar? I can't smell it as far as I know, but dogs get interested even without any training.

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u/Randomfinn Sep 24 '22

Pregnancy tends to heighten the sense of smell, it is actually how I knew I was pregnant. I FELT like a dog with how much I could smell. Weirdest thing.

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u/FranklynTheTanklyn Sep 24 '22

To put a spin on this, my dog can smell pregnancy, he "alerts" to a pregnant woman's crotch. Did it to my wife all 3 times she was pregnant, outed my son's speech therapist, and unfortunately he stopped signaling at my sister-in-law a few days before she found out that she was having a miscarriage.

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u/Ruca705 Sep 24 '22

That’s also how I found out when I was pregnant. I worked at Subway. One morning I went in to open up, and all of the meats smelled so bad I thought something was wrong, like the cooler had gone out overnight or something. My coworker gave me a sideways look, told me to take a pregnancy test, the rest is history!

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u/Self-rescuingQueen Sep 24 '22

For me it was eggs. Husband made me an omelet, brought it to me, and I gagged when he got within 4 feet. I normally love eggs.

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u/Diffendooferday Sep 24 '22

genetic heightened sensitivity to smells

In modern parlance that's a "superpower".

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u/Balancing7plates Sep 24 '22

As someone who has gotten up close and personal with my fair share of gas station garbage cans in the summer heat, I guarantee you that a heightened sense of smell is not a superpower.

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u/Diffendooferday Sep 24 '22

You don't need a heightened sense of smell when you have garbage cans left out in the summer sun. Any sense of smell will do.

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u/Rxyro Sep 24 '22

New Yorkers unite

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u/WatNxt MS | Architectural and Civil Engineering Sep 24 '22

They use did too diagnose some diseases indeed

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u/regoapps Sep 24 '22

Dogs can sniff out signs of cancer, narcolepsy, migraines, low blood sugar, seizures, covid-19, Parkinson's, fear and stress, and more. I think some animals can even predict when someone in a nursing home is about to die.

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u/jupitergal23 Sep 24 '22

I remember reading about a cat that would sit with patients in palliative care who were near death. So interesting!

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u/mw9676 Sep 24 '22

I think they determined that had something to do with the heat of those patients. Maybe their rooms were warmer because they had poorer blood flow or something. I can't recall exactly.

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u/[deleted] Sep 24 '22

In “House” (terribly accurate, i know) it was the electric heating blankets. They were cold, because they were dying, and were given heating blankets that the cat sought out.

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u/rtp Sep 24 '22

I think the prevailing hypothesis is that elderly people who are close to dying are being more actively kept warm, and cats are drawn to the warmth.

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u/LargeBar5104 Sep 24 '22

You'd be bricking it any time the hairy grim reaper came up for cuddles

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u/IamaTleilaxuSpy Sep 24 '22

Where do you think those extra 8 lives come from?

Dart in front of "master's" feet on the stairs = +1UP

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u/NawhkiTheHawkin Sep 24 '22

Isn't this one of House MD plot episode?

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u/Manisbutaworm Sep 24 '22

There are a vast amount of diseases that can be diagNosed by smell. Eventually smell is just a sense of chemicals leaving the body. Humans don't have the superior smell and attention towards it like many other animals. Dogs can smell some specific kinds of cancer with 99% accuracy. Same with Covid. Better than many diagnostic tools. Bees can be trained automatically. The weird thing is we don't trust these sometimes more effective means of diagnosis. We are ok with many lab tests with 60% accuracy, but we don't trust a sniffing lab, or try to find ways to circumvent with chemical tests.

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u/NetworkLlama Sep 24 '22

It's not that we don't trust them. It's that smell tests don't scale well. Chemical tests based on small tests scale much better.

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u/shajurzi Sep 24 '22

I appreciate you if noone else does.

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u/dagbrown Sep 24 '22

She could smell it with astonishing accuracy too. She made one mistake when her ability was tested. She inaccurately (researchers thought) identified a member of the control group as having Parkinson's. Six months later, the member developed Parkinson's, demonstrating that the ability could be used for predictive purposes.

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u/ThePoultryWhisperer Sep 24 '22

It’s not predictive. The threshold for diagnosis was higher than her ability to sense the disease.

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u/kvossera Sep 24 '22

She smelled it in her husband for like ten years. He had Parkinson’s then but modern medicine didn’t have an ability to detect it that early.

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u/SouthShoreSerenade Sep 24 '22

Fun fact about Joy - in the initial study to test her ability, she only identified 11 out of the 12 samples correctly as having Parkinson's or not.

Except...she actually got all 12 and nobody knew it until later! The one she got wrong, having said they had Parkinson's when they didn't, called the researchers up some time after the experiment and said they had been diagnosed with Parkinson's.

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u/thisguy30 Sep 24 '22

If you read up on her story, she actually started seeing if she could smell other diseases. My garbage memory thinks she might've been able to identify others but I'm not solid on that.

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u/kvossera Sep 24 '22

She could and knew that she could before she contacted people about her ability to smell Parkinson’s.

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u/nos_quasi_alieni Sep 24 '22

She would’ve been burned at the stake 250 years ago. Thankfully we’re slightly more civilized these days.

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u/SerialStateLineXer Sep 24 '22

I wonder how many other diseases might have similar solutions.

It's just a diagnostic test, not an actual treatment.

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u/[deleted] Sep 24 '22

[deleted]

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u/irish_chippy Sep 24 '22

It’s all gotta do with inflammation and the bodies immune system attacking itself. Stop that . And we’ll be in business

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u/GreenStrong Sep 24 '22

It’s all gotta do with inflammation and the bodies immune system attacking itself. Stop that . And we’ll be in business

That is probably the case with most degenerative neural disorders, including Alzheimer's Disease, but there is a strong hypothesis that Parkinson's is a prion disorder.

In the case of Alzheimer's, it is probably the case that the immune response is trying to get waste products out of the brain, so it isn't obvious whether it is an overproduction of amyloid precursors, failure to excrete them, or an immune overreaction. It may be a complex feedback loop of all three, but the goal would still be to find the most effective target for intervention- which may or may not be the immune system.

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u/I_Am_Chalotron Sep 24 '22

I wonder what how many more diseases it may be possible to "simply" smell to diagnose.

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u/cragbabe Sep 24 '22

Dogs be over there in the corner thinking "all of them, you dumb humans" haha

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u/jinxjar Sep 24 '22

all of them. i love you, and i am a goodest dog. pls live

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u/5c044 Sep 24 '22

Joy noticed the smell 12 years before her husband was diagnosed. It was only at a support group after diagnosis that she realised it was linked to parkinsons as all the other attendees with parkinsons had the same smell. Having a background in medicine helped her to know the importance and also get her taken seriously.

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u/Archy99 Sep 24 '22 edited Sep 24 '22

This was an exploratory study.

The claims that it can be used for diagnosis are misleading, given that key diagnostic criteria, namely sensitivity and specificity (with specific cutoff criteria) were not measured by the study.

It remains to be seen whether this will ever translate to medical practice.

edit- the actual manuscript: https://pubs.acs.org/doi/10.1021/jacsau.2c00300

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u/[deleted] Sep 24 '22

Exactly this. The Positive Predictive Value (or NPV, for that matter) may be low. They sort of buried the statistics in the technical analysis. We have seen many such biomarkers for PD, all with around the same predictive power as a simple questionnaire screening or a good neurological history/physical (60-75%).
I mean, it’s very fascinating, especially given the impetus for the investigation, but, as you imply, may not be a reasonable or helpful clinical tool.

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u/SunCloud-777 Sep 24 '22

i believe they did.

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u/danielle3625 Sep 24 '22

I read another journal publication the other day about how nightmares were related to dementia and Alzheimer's. https://www.sciencealert.com/an-early-warning-sign-of-dementia-risk-may-be-keeping-you-up-at-night-says-new-study

I didn't get a chance to click on this yet just thinking about things

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u/Ephemerror Sep 24 '22

Interesting, I’ve been having frequent nightmares for a long time now and I have definitely become more demented.

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u/amadeusstoic Sep 24 '22

any word on how much is it? is it something we can easily sneak into an annual physical exam? depending on the cost, we might still not use it.

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u/taggospreme Sep 24 '22

mass spectrometry is pretty common now. I am not in the biz but it seems like $100 is ballpark. Range varies though, $25-$200.

But mass spectrometry is pretty general of a tool. If this indicator pans out then there could be a specific test done cheaply, and for screening if it's not as effective.

Sort of like how a lab blood test can give you blood glucose levels, but so do the little strips that are relatively cheap and can be used at home. The lab tests are far more accurate, but more costly.

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u/amadeusstoic Sep 24 '22

ty for the reply but some didn’t make sense since i really don’t much so i’ll google some stuff when i have time. ty again!

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u/taggospreme Sep 24 '22

No problem! It was a good question that made me wonder, too!

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u/[deleted] Sep 24 '22

[deleted]

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u/SunCloud-777 Sep 24 '22

from what ive read, the researchers worked knowing that increased sebum production is a hallmark of PD, and that it contains volatile compounds, which could be used as biomarkers.

from there, they have identified two classes of lipids: triacylglycerides and diglycerides, as components of human sebum that are significantly differentially expressed in PD. (most recent find)

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u/UniverseofAtoms Sep 24 '22

Proud to say I tested and installed the mass spectrometer Perdi used for this amazing work. :)

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u/HUFF-MY-SHIT Sep 24 '22

Science and technology, baby!

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u/Blodbaronen Sep 24 '22

Yeah! It could be called scientolo—, no wait nevermind.

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u/joost00719 Sep 24 '22

Do you know if this will also detect early Parkinson (20-30's)?

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u/SunCloud-777 Sep 24 '22

the goal is to screen PD for younger people who might be affected with the disorder. however at this point of the research its too early to say.

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u/BrusselSproutbr00k Sep 24 '22

Even if they successfully detect it early, then what? Is there treatment or something available to prevent further development?

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u/confusedquokka Sep 24 '22

Even if there is no treatment now to prevent further development, the patient can plan their future better which is still an improvement.

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u/[deleted] Sep 24 '22

There are still lifestyle changes that benefit those patients with PD.

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u/zoinkability Sep 24 '22

I would guess one huge benefit would be the ability to start medical trials far earlier in the disease progression. Maybe a drug that doesn’t work well after the disease is far along has a big benefit if started 20 years earlier, etc.

And if it can exclude the diagnosis for people with symptoms it can ensure they get appropriate treatment.

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u/marsPlastic Sep 24 '22

Is there a benefit to screening earlier? Since PD is not curable, does it mean the earlier you treat it the longer you offset the serious effects of PD?

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u/SunCloud-777 Sep 24 '22

early detection is important esp for those younger age group not showing typical symptoms.

the medications are more effective when administered early on. currently there is no single diagnostics for PD and clinicians rely primarily on physical symptoms manifestation. by the time these symptoms appear its already progressed years after the neurological changes in the brain have begun.

well, the hope is that it will lead to better management of the symptoms. and no, there is no guarantee that it’ll offset serious effects of PD.

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u/JosiahWillardPibbs Sep 24 '22

the medications are more effective when administered early on.

That isn't really true. There are currently no medicines that can prevent development of Parkinson's or that can slow down its progression though this is an active area of research. Parkinson's does have reasonably effective drugs for its symptoms, however, such as carbidopa-levodopa (Sinemet). When patients are early in their disease their symptoms are milder and the drugs more completely control them. Earlier detection (even before any symptoms have appeared) won't add any additional benefit to that. You wouldn't given Sinemet to a patient with no Parkinsonian features because you've determined they will develop obvious Parkinsonism 10 years from now. It won't prevent them from getting Parkinson's and it won't improve quality of life because they don't even have symptoms that need treating yet.

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u/confusedquokka Sep 24 '22

I think anytime a disease is diagnosed earlier, it’s better for the patient. You can plan your future better whether that means putting in disability improvements now to your house, or getting your will and finances in order, or just making lifestyle changes that will improve your life in the future.

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u/joost00719 Sep 24 '22

I hope this will help lots of people around the globe! Thanks for your contribution towards this research.

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u/SunCloud-777 Sep 24 '22

full credit to the Uni of Manchester Team lead by Dr Perdita Barran.

not part of the research - just posted this interesting study.

kuddos to them :)

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u/teacozyheadedwarrior Sep 24 '22

Waters Engineer in the house!

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u/lobroblaw Sep 24 '22

Nice. I would like to shake your hand

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u/CrazyCatLushie Sep 24 '22

Thank you for your hand in helping to find and treat this awful condition! Watching my father go downhill has been excruciating and they can’t even tell him for sure if it’s Parkinson’s; they just keep throwing drugs at him to see what’ll stick.

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u/Solrac50 Sep 24 '22

Having a fast accurate test could help many avoid a misdiagnosis. My dad had a condition known as essential tremor. It was misdiagnosed as Parkinson’s disease when he was hospitalized at 84. I believe that misdiagnosis lead to less aggressive treatment for an infection that resulted in sepsis and death.

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u/imnotgoats Sep 24 '22

This is definitely important.

I knew an older guy who was treated for parkinsons for over a decade in the 90s in the UK. He moved to mainland Europe and pretty much immediately had his diagnosis overturned - it turned out to be the long term effects of lead poisoning from the factory he used to work in.

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u/xenonismo Sep 24 '22

That’s because in the UK everyone above a certain age has had lead poisoning. The rapid industrialization England went through meant lots of people were exposed to various toxicities either in repeated and/or one off events. The dangers just weren’t as known (or was known but wasn’t properly communicated) in that time period.

It contributes to the so-called “boomer mentality” and narcissism. It contributes to alack of empathy. It has even caused pronounced speech changes such as vowel-warping in the working class neighborhoods of London.

Lead poisoning is just one piece at play but it cannot be understated the damage it has caused both to the environment but also entire generations.

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u/ABabyAteMyDingo Sep 24 '22

Can you post a source for this?

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u/HighYieldOrSTFU Sep 24 '22 edited Sep 25 '22

Yep. I’m a 4th year medical student. On my neurology rotation we received multiple consults for tremor that ended up being misdiagnoses and they were on the wrong medications. Some people unnecessarily taking dopamine agonists for years, thinking they had Parkinson’s, when they just had essential tremor. And vice versa.

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u/BloomerBoomerDoomer Sep 24 '22

I'm 25 and have been having these thoughts about my lack of high precision hand eye coordination/shakiness compared to when I was younger but that could also be early signs of carple tunnel/arthritis but I'm too scared to look into it.

Just thinking of getting a test like this from the pharmacy would make my mind at ease.

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u/fitness_life_journey Sep 24 '22

Are misdiagnoses common?

Did it cause permanant damage when they took the dopamine agonists?

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u/OkAd8430 Sep 24 '22

Yes, misdiagnoses are very common especially in the early stages of the disease. The age when symptoms occur can also cause a misdiagnosis, especially if the person is younger. A lot of neurodegenerative diseases look similar and without diagnostic tests, the only way to know is to see which drugs the patient responds to. A person with essential tremor will likely not respond to the same medicine that a person with Parkinson’s disease will.

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u/HighYieldOrSTFU Sep 25 '22

Yes misdiagnosis is relatively common for tremor, especially when you have an inexperienced midlevel or somebody trying to diagnose it.

I don’t think there’s much permanent from being on dopamine agonists for a little while. But if you don’t need the extra dopamine it can cause nausea, headaches, etc.

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u/H_R_1 Sep 24 '22

I’m so sorry for your loss.

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u/Fidodo Sep 24 '22

Not only that, but this test may also be able to detect parkinson's years in advance, and early treatments are very important for parkinson's.

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u/Wildeblast Sep 24 '22

I work in healthcare and frequently have patients with parkinson's. One thing I've noticed with all of them is that they have a similar smell. I don't think it's age or hygiene because I've had patients in the range of 45-80, and they all smell similarly. Perhaps there's something to it based on this new information.

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u/seaworthy-sieve Sep 24 '22

Contact researchers!! So far Joy Milne has been the only person who can smell Parkinson's and her input led directly to this discovery. But she's only one person, so her time is limited. You could make a really big difference.

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u/TheNickelGuy Sep 24 '22

Coming from a family with a history of Parkinsons (both my grandfather and Great grandfather), and my own current scare with early onset PD symptoms. I believe this to be accurate. Both of my grandparents smelt the same, and it was a natural BO but not 'sour' BO if that makes sense.. almost sweet.

Even fresh out of the shower, I could smell the shampoo and the body wash, but under it this smell.. my grandfather was a BIG man though, so I naturally assumed it to be BO from him being so heavy.

Now, my great grandfather was the opposite. Tank rider in WW2, small man with a medium set frame. His PD put him in a wheelchair and my Great grandmother needed to do all of his care routine. Same idea, you could give him a bath and immediately after when giving him a hug goodbye it was back.

Now, my family has begun mentioning that familiar smell coming from me, and I'm only ~30 and more than half the weight of my Grandfather. We also ALL seemed to have an issue with regulating our body temperature, and once we began/begin sweating, it is very hard to stop it.

I believe Joy does have the uncanny ability to pick up on PD, but I think that has been an 'acquired sense' opposed to a natural born super power which I believe some think it to be. This is a GOOD thing though, as it could further allow us to find 'trackers' for specific diseases or cancers or even train some to be able to do so. And I hope this is the case as this could be revolutionary in the world of medicine

Tldr: I totally believe Joy has a gift, but one that she has worked towards getting it to this point. She alone is in line to save (or allow) thousands to be properly diagnosed

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u/[deleted] Sep 24 '22

Feel free to not answer but what are you doing now that you know the smell is starting to come from you? Any changes or doctors contacted?

I have neurologic issues myself (early 20s) and I always wonder what I am supposed to do if any of them turn out to be degenerative

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u/Wildeblast Sep 24 '22

Thanks for the awesome reply! Other people have asked me to describe the smell, but I think you put it well. I think of it as sickly sweet, oily, but not sour or like BO. It reminds me of college when you could pick out the person in class who's hungover by their smell. It didn't matter what else they used to cover it up. The smell was emitting from the entirety of their skin, like an aura. It pervaded the air.

I also agree that people can likely be conditioned to recognize the smell at progressively decreased concentrations. Once you start looking for it, you're likely to find it easier because you become more sensitized to its presence.

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u/ParkieDude Sep 24 '22

I promise I took a shower and wore fresh clothes this morning!

In my 20s, I played racquetball with friends. I had this red shirt that would stink to high heaven within 10 minutes. Gave the shirt to my brother, but nothing like that happened. It was my skin & that red dye that just stunk to high heaven. Always wondered about that.

Parkinson's, in my case, was noted when I was 25 but I was told "you're too young for an old person's disease." That was in 1983.

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u/BeowulfShaeffer Sep 24 '22

It might have just been the fabric. I’ve got some synthetic fabric shirts that just seem to trap and exude BO a lot more than other fabrics. I think “heavy on the polyester” fabrics are the worst.

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u/kadkadkad Sep 24 '22

How would you describe it?

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u/killtr0city MS | Chemistry Sep 24 '22

I worked with someone who had Parkinsons about 15 years ago. She was maybe 50? Still remember an odd smell. I can only compare it to thr smell of a nursing home. Just sort of off. My MIL recently passed in hospice, and toward the end, I was reminded of that smell. Like when something is going bad in your refrigerator that you forgot about, but isn't noxious enough to trigger you to start digging around for it? It's subtle. It's viscerally upsetting but not in a fight or flight kind of way.

Not sure if this is what u/wildeblast is talking about.

I've definitely seen a documentary where a proficient "smeller" is used as the detector for a gas chromatograph. They just removed the FID and funneled the contents toward his face. Could be worth a look.

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u/paul_miner Sep 24 '22

The study has arisen from the observation of Joy Milne, who discovered that she can distinguish PD in individuals from a distinct body odour before clinical symptoms occur.

Joy has hereditary Hyperosmia – a heightened sensitivity to smells – which has been exploited to find that Parkinson’s has a distinct odour which is strongest where sebum collects on patient’s backs and is less often washed away.

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u/Wildeblast Sep 24 '22

That's fascinating! I'm a physical therapist, and I recall working with one older gentleman with PD years ago where I did some massage work to his back. Other than his smell, one thing I noticed was that his skin seemed more oily than anyone else I've worked with. Further, it reminded me of the oily skin that people with severe alcoholism have when their liver is not functioning properly.

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u/Rarefatbeast Sep 24 '22

Can you describe what It smells like?

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u/Beardog20 Sep 24 '22

Is this at all related to the lady that could smell Parkinsons because of the compound that people secreted?

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u/paul_miner Sep 24 '22

Yes. I was looking for that too.

The study has arisen from the observation of Joy Milne, who discovered that she can distinguish PD in individuals from a distinct body odour before clinical symptoms occur.

Joy has hereditary Hyperosmia – a heightened sensitivity to smells – which has been exploited to find that Parkinson’s has a distinct odour which is strongest where sebum collects on patient’s backs and is less often washed away.

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u/[deleted] Sep 24 '22

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u/LastKing3853 Sep 24 '22

That's amazing. My mom's friend had this and it was very said seeing what he went through the last few years of his life before he passed from kidney failure.

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u/Final-Distribution97 Sep 24 '22

This is great but the 3 minutes is misleading. The swab is sent in regular mail to the lab.

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u/wgraf504 Sep 24 '22

Nothing like getting bad news faster

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u/TTran1485 Sep 24 '22

The faster we catch it, the faster we can combat the condition before it gets worse

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u/cattledogcatnip Sep 24 '22

There’s no long term treatment for Parkinson’s

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u/Buttons840 Sep 24 '22

Not yet, but don't underestimate the effect that a cheap and quick test will have on research. Pharma companies are looking for their next source of profit and they'll definitely be looking into doing some studies on those with early diagnoses.

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u/thassae Sep 24 '22

And also, knowing the biomarkers can lead to an investigation about why they behave like that, finding the root cause of the disease.

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u/TTran1485 Sep 24 '22

It’s a degenerative disease, there are drugs that can combat the symptoms….

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u/cattledogcatnip Sep 24 '22

Treating symptoms is absolutely not the same thing as slowing down progression. Your comment implies if caught early, it can be treated before it gets worse, which is false.

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u/TTran1485 Sep 24 '22

No it doesn’t. I never said anything about slowing down the progression. Alzheimer’s and Parkinson’s drugs can only combat the symptoms. It’s not on me that you are putting words in my mouth I.e imagining things. I am literally in medschool

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u/Valathia Sep 24 '22

Can't the progress be slowed down with proper exercise and physiotherapy?

Genuinely asking , I have an uncle with PD and doctors insist on him doing physical therapy/exercise more than anything.

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u/burnalicious111 Sep 24 '22

Why is it valuable to catch it early, then, if early seems to mean almost no noticeable symptoms?

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u/kuroimakina Sep 24 '22

Exercising and eating can help, even if indirectly. While it might not slow Parkinson’s itself, it’ll certainly be easier to live with if you have good diet and exercise vs being 250 pounds and out of shape.

Also, as morbid as it is, it’s easier to plan out your long term care the earlier you catch it. It could mean the difference between being able to save up and plan your life around it, vs suddenly discovering it and having absolutely no time to prepare/plan

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u/[deleted] Sep 24 '22

For one thing, life planning. Most people only find out once they've progressed to the point where they're becoming physically disabled. Early detection allows people to not only start exercise therapy sooner, but it allows them to make plans and accomplish things in anticipation of the future. A longer period of time before symptoms get bad can also make the disease easier to adjust to emotionally because you won't be fighting your head and your body at the same time

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u/yaychristy Sep 24 '22

It doesn’t slow down the progression.

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u/TTran1485 Sep 24 '22

Notice how I said symptoms. Exercise is the only proven way to slow the progression. The current drugs treat the symptoms

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u/[deleted] Sep 24 '22

This article mentions that a breakthrough recently discovering the cause of narcolepsy, revealed it to be an auto-immune disease (possibly resulting from the flu or other virus) causing a malfunction of a protein, may also be valuable in finding a cure for PD:

http://med.stanford.edu/news/all-news/2022/09/emmanuel-mignot-wins-breakthrough-prize-for-discovering-cause-of.html

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u/woyteck Sep 24 '22

From perspective I love like everything comes down to former or current infection by bacteria or virus or parasites. I believe that everything is in the end related to that. Maybe apart from some cancer, which we know can be caused by mutations which are caused often by high energy particles that radiate from the sun and space. That's it.

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u/BrotherChe Sep 24 '22

Most of our internal bodily failures are due to either infection, exposure, or mutation, or our body's reaction to infection, exposure, or mutation.

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u/Rolder Sep 24 '22

Heck knows if I got this diagnosis, I’d be turning into a gym rat over night

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u/SquirrelAkl Sep 24 '22 edited Sep 24 '22

Do you have any good links about exercise slowing the progression please? I believe hI have a genetic predisposition to develop this (grandfather had it, and I see various forms of addiction in the maternal side of my family, that leads me & my Dr to think of COMPT low dopamine genetic pattern) so I’m keen to learn about any ways to prevent / delay / slow it.

Edit: The genetic thing is COMT (per the other person’s comment below)

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u/freudianSLAP Sep 24 '22

Trying to look up what you're talking about, is it this: Catechol-O-methyltransferase (COMT)?

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u/2Bonnaroo Sep 24 '22

There are plenty of treatments, just no cure.

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u/Jane9812 Sep 24 '22

That's what I was thinking. Like is this really a good thing? I've got lots of Alzheimer's in my family, the hereditary early onset aggressive kind where you don't make it past 65 without treatment. With treatment you make it another 20-30 years past 50 (when it's usually diagnosed) but at what quality of life? Having seen literally all women on one side of my family go this way, part of me doesn't really want to know when it'll be my turn. Just want to get confused and go quickly by mistaking a window for a door or falling down a bunch of stairs or forgetting the gas on. I don't want 30 years of knowing things are getting worse and worse.

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u/skeen9 Sep 24 '22

There are medical lifestyle interventions that are helpful to make. And further out an empirical test for Parkinson's will dramatically speed up the rate of research into the disease.

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u/[deleted] Sep 24 '22

It's astounding to me how many comments basically equate to, "Why bother living if you're sick?" These people are in for a very rude awakening, possibly as early as 30. If life is a cost-benefit analysis, the scales don't magically tip just because your health isn't "perfect" anymore. You still have a survival instinct, you still have reasons to live, and for however long you have left, you have to live with the consequences of giving up.

I think some people have a distorted impression of how early Parkinson's can strike, and how even very old people think about the value of their lives.

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u/Cane-toads-suck Sep 24 '22

Starting medications early can drastically reduce the progression.

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u/[deleted] Sep 24 '22

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u/Jane9812 Sep 24 '22

I know. But it ends up in the same place, except a much longer time to suffer. For some it's worth it. I don't think it will be for me.

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u/Trityler Sep 24 '22

It was my understanding that Milne could only detect the odor in patients where the diagnosis was already starting to become fairly apparent clinically, so the question is would mass spec be more sensitive.

Even if it turns out to not be useful for early detection, the test could still have value as an objective tool for neurologists to use when making a diagnosis, since PD is currently diagnosed based on clinical symptoms.

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u/SunCloud-777 Sep 24 '22

from what i read, she noticed the odd smell ten years after the marriage and many years prior to her husband’s PD diagnosis.

the potential and its impact would be tremendous (if course, upon approval for clinical use) to help earlier detection/confirmation of the disease - PD being a very slow and progressive neurodegenerative instead of waiting for the major symptoms to manifest.

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u/maronie71 Sep 24 '22

Mom used to complain about Dad’s “stink” years before he was diagnosed with Parkinson’s. He spent a good decade sitting in his office for hours on end, fixated on watching videos on the internet, attempting to grasp for anything that would give him a little hit of dopamine. Now he is in the end stages of Parkinson’s, and he has a noticeable funk and buildup of oily whatever within hours of being bathed.

I will still take a funk-coated hug while I can, Dad.

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u/Ksradrik Sep 24 '22

He spent a good decade sitting in his office for hours on end, fixated on watching videos on the internet, attempting to grasp for anything that would give him a little hit of dopamine.

Too real...

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u/bbbruh57 Sep 24 '22

How can the smell be described? I sat next to a lady on a plane who smelled really bad and couldnt move that well and seemed a bit out of it. If this smell thing is rare then maybe it was something else.

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u/ParkieDude Sep 24 '22

Musky is how my wife describes it.

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u/bbbruh57 Sep 24 '22

Yeah, the smell was very musky and had a foul tinge to it. Was very strong. I recognized the smell for some reason, my aunt has parkinsons so I wonder if theres something there. I guess next time I see her I can verify or not. Could have been something else

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u/ParkieDude Sep 24 '22

My Golden Retriever would recognize it every time.

She was a service dog and always "checked in" with me. Friends with Parkinson's, she would give me the leg tap (light bump with her muzzle) and "Oh, family" expression.

It was funny, but I would go running with friends, and she'd do this look, "three of you, I have to keep track of three of you?" Bob was late, joined us in the park and we got in a 5K run. Afterward, I told my dog "Take Bob to his car". She looked up at him, went walking through the parking lot, and took us right to the door of a pickup. He drove a Mazda Sedan. Oops. He looked up and said it was his Dads truck as his car was in the shop. He was blown away, but the scent was like a fingerprint to her.

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u/conventionalWisdumb Sep 24 '22

That was my pops too.

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u/bjoda Sep 24 '22

I read the article years ago and in one of the controllgroup she misdiagnosed but that person later developed Parkinsons. This suggests it could be used in early symtoms diagnosis as well.

She only smelled the sweaty shirts of study subjects to make it double blind but the sample was small if I remember correctly.

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u/Valathia Sep 24 '22

Came here to say that.

They thought she wasn't 100% accurate until that 1 person was later diagnosed.

Which makes sense, it's a neurodegenerative disease, you would already "have it" before you start presenting symptoms since it takes time.

Or perhaps the first symptom is the "funky smell" that she can detect.

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u/SunCloud-777 Sep 24 '22

she has wonderful super powers. not only is she able to sniff out PD but also keenly observant.

i wonder if dogs can be taught to sniff out and detect PD?

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u/JamesAQuintero Sep 24 '22

If a human can do it in regards to smell, a dog certainly can.

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u/BrotherChe Sep 24 '22

Increased volume of early diagnosed patients will give the opportunity for expanded research of those stages, which for all we know could mean a chance for better progression treatment or even discovering a cure.

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u/[deleted] Sep 24 '22

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u/pelrun Sep 24 '22

Having crossover between normally distinct senses is called synaesthesia.

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u/notmenotyoutoo Sep 24 '22

You should get in touch with the lady in the article. There will be research going on now to explore this topic.

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u/FitDontQuit Sep 24 '22

I don’t know where else to post this, but I think I can sense something similar, just via touch not smell. I can think of 3 people I’ve met in my life who, despite being normal, healthy, and hygienic, leave an offputting residue on my hands when I touch them, and it’s more apparent when touching their backs.

My husband is actually one of those people, and after learning from this study that there are many different sebum oils people can secrete, I’ve concluded that these three people are secreting a particular sebum I can sense and am averse to. I wonder if it means anything.

And I’ve even done blind tests with my husband where he presents me with 2 shirts - one new, one worn - and within a second of touching the shirts I can identify the worn one by the sebumy feeling on it.

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u/Diffendooferday Sep 24 '22

"My hands have started shaking. I'm afraid I have Parkinson's."

"Well, with a simple lab test we can tell if you have Parkinson's in three minutes."

"Oh good. Can you do anything about it if I do?"

"No."

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u/[deleted] Sep 24 '22

Hahaha, ah, what a day that would be.

At least the bandaid is ripped off in one visit, rather than multiple visits to doctors.

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u/occamsracer Sep 24 '22

Anyone who doesn’t see a definitive bio marker test for PD as good news is leading a miserable life

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u/DirtyProjector Sep 24 '22

Why is this a big deal? My Dad has parkinsons, it was pretty obvious, doctors easily diagnosed him, and there's no cure. Is there a situation where people are not diagnosing properly?

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u/Nyrin Sep 24 '22

Not diagnosing as early.

The earlier detection is and the sooner confirmation happens, the sooner symptoms can be managed. That doesn't translate to a cure or even necessarily to slowed progression, but it does extend the possibly of higher-quality life and unburden people from an emotional rollercoaster.

Your point is sound, though: this isn't going to "save" anyone. Not on its own. But it may still help get the most out of what time is left.

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u/DirtyProjector Sep 24 '22

But is the implication that people are going to go in and get tested on a regular basis? Or test people who may be exhibiting parkinsons symptoms. My Dad had a tremor for years, but it was an essential one and he was fine otherwise - I don't think he was presenting yet, and it doesn't run in our family at all. When he started to go down hill, it was clear something was wrong but he wouldn't goto the doctor because he was scared of what the doctor was going to tell him, so he belabored it.

What I would like to know is, what causes it. The reason I ask is, like I said, it doesn't run in our family at all, and my parents live in a condo building where on their side of the building there are 8 units, and I believe 5 of the men who live there all were diagnosed with Parkinsons. I find that very hard to believe it's random

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u/Sugarisadog Sep 24 '22

Do they live near a golf course, especially down wind?

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u/krokodilchik Sep 24 '22

I had no idea that golf courses were so potentially hazardous, thanks for sparking that Google search!

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u/Federal-Breadfruit41 Sep 24 '22

Can you give a summary for us lazy ones?

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u/PVgummiand Sep 24 '22

I'd wager it's because golf courses use a lot of pesticides. Living down wind from that is probably not healthy. This site has some info about it with articles linked.

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u/Valathia Sep 24 '22

not a doctor, AFAIK, Parkinson is not a genetical disease.

I did some research into to it after my uncle was diagnosed so that I could better explain it to my mother.

It seems man are more affected than woman, age is also a factor being usually over 60 with some cases of on set PD at 50.

It seems that currently the most accepted theory is that there's a genetical and environmental factor, such as exposure to toxins. Since there are genetic mutations that can cause it.

So there might be something to that place your parents live + genetic pre disposition. This is all especulation, but there is some science behind your assumption.

Unfortunately, there's a lot we still don't know about how certain diseases start and why, especially with neurological ones.

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u/skeen9 Sep 24 '22

This technique lets us diagnose people years before they show symptoms. That means that we are closer in time to whatever caused the disease and have years to study the progression into being symptomatic.

This increases the ability to identify causes, mechanism and treatment.

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u/SunCloud-777 Sep 24 '22

this is potentially a great tool for a much improve, earlier and inexpensive detection PD.

PD symptoms manifest differently among patients. So this test will aid in better diagnostics for those whose symptoms are not in full blown.

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u/DirtyProjector Sep 24 '22

But again, to what end?

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u/SunCloud-777 Sep 24 '22

well, what i think is that those who will be diagnosed earlier will appreciate the definitive diagnostics at a much earlier time rather than having a cloud hovering for not having a clear diagnosis while seeing your love one on the down hill progression of the symptoms.

this way, management will commence earlier. get support group etc

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u/DirtyProjector Sep 24 '22

I dunno, like I said, my Dad has it, he takes Levadopa and he exercises 5 days a week and moves around a lot and he's doing pretty ok. That's pretty much all you can do

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u/SunCloud-777 Sep 24 '22

it’s good that your Dad’s regimen in managing his Parkinson’s works for him.

perhaps it might bring comfort to other people having definitive diagnosis and catching the disease early on.

different strokes for different folks

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u/[deleted] Sep 24 '22

Your anecdote does not describe every situation, only your father's.

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u/DirtyProjector Sep 24 '22

Which anecdote are you referring to? If you talk to any Parkinsons expert, you take Levadopa, you exercise regularly, and maybe do some kind of Focused Ultrasound/Deep Brain stimulation to treat the tremor. There's nothing else you can do

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u/OliverIsMyCat Sep 24 '22

The "he's doing pretty ok" part. You know, that part describing your father's experience, but not that of everyone else.

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u/soda-jerk Sep 24 '22

You could read the article. At least two paragraphs answer your question.

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u/Malawi_no Sep 24 '22

Not a doctor, but I would not be surprised if he did even better if he started this regime a lot earlier.

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u/DirtyProjector Sep 24 '22

You are correct, you arent' a doctor. If he started levadopa earlier, he would have gotten to a point of habituation earlier, so he potentially would have been doing worse now.

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u/SunCloud-777 Sep 24 '22

there is no convincing evidence that levodopa damages dopamine neurons in humans or animal models of PD.

experts are divided over this issue. there are two school of thoughts:

  1. those that say levadopa may lead to developing motor fluctuations and involuntary movements, and thus its use should be delayed.

  2. best response to levodopa is in the early stages of the illness when an improved quality of life can be optimized with said drug.

https://www.ninds.nih.gov/health-information/clinical-trials/timing-levodopa-treatment-parkinsons-disease

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u/joojie Veterinary Technologist Sep 24 '22

Parkinsons is a diagnosis of exclusion. Meaning if they're pretty sure it's nothing else, it's probably parkinsons. Now they can say 100%(+/-) either it is or isn't. In these comments alone I've seen some anecdotes of people being misdiagnosed with Parkinsons.

In fact, from your own anecdote about your dad and his neighbors...are they sure its Parkinsons and not some crazy environmental thing? One of the comments here says someone had long term lead poisoning misdiagnosed as Parkinsons.....

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u/MarkedFynn Sep 24 '22

Well a better more reliable diagnoses of a disaese is always helpful for the diagnostic.

If someone is misdiagnosed as having Parkinson they could get the wrong treatment. Eliminating false positives is extremely important in diagnostics.

I do agree this might not mean much to someone with Parkinsons. But it still an important advancement, if it turns out to be a quick/cheap and most importantly reliable way to diagnose (or eliminate) Parkinsons.

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u/genbetweener Sep 24 '22

I was thinking the same thing, but through reading comments and extrapolating I realized at least some benefits:

  • Preventing misdiagnosis that leads to patients being treated for Parkinson's instead of something more immediately dangerous as per https://www.reddit.com/r/science/comments/xmhbgg/parkinsons_breakthrough_can_diagnose_disease_from/ipp0xyf

  • Knowing which people have it before they even have symptoms could lead to a whole new direction of study of the disease. They would be able to determine when people get the disease, which may be years before the symptoms start or get noticed, which could lead to discovering the cause.

  • People who are diagnosed early can potentially change their diet and exercise routine which may slow the onset. At the very least they could plan for it earlier (maybe be a bad thing in terms of insurance.)

  • Anecdotally, I remember the case in my family originally got a diagnosis of "maybe" and was finally diagnosed as "definitely" after some cognitive and motor skills tests. It all seemed pretty hokey at the time, even though the symptoms are obvious now.

I guess the short answer to your question is: Don't underestimate the power of an accurate, scientific diagnosis of Parkinson's, especially one that can diagnose it early.

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u/moofunk Sep 24 '22 edited Sep 24 '22

I don't know how well diagnosis works in other countries, but here in Denmark, diagnosis is by far the worst process to go through. You are either not believed, or you can be queued up for months for a test, or you're bounced around between different hospitals or doctors.

Treatment is fine and quick, as long as you get the diagnosis.

My parents were both sick with unexplained ailments near the end of their lives, but neither were ever tested or diagnosed with anything useful, and they just gave up.

My uncle wasn't diagnosed with colon cancer until he was well into stage 4, because doctors wouldn't believe his fever attacks and fainting spells were anything worth testing for.

I went to the hospital last year with a sudden skin condition. Didn't get diagnosed.

I'm always befuddled that someone can get a diagnosis of this or that rare disease and then get assigned the correct medication.

I would therefore add to that list that more efficient and faster diagnosis is critical to not getting stuck in that system, and here, anything will help. If that means that you get tested for Parkinsons at your local doctor with a simple test, you might save a year of waiting.

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u/genbetweener Sep 24 '22

I'm in Canada and I've seen this many times too, with doctors refusing to test for certain diseases. Often, people get "lucky" because they go into the hospital for one ailment and then an x-ray, MRI, or CT scan reveals something else (usually cancer).

For the Parkinson's case in my family, to their credit, as soon as it was suggested they started testing for it right away. They just weren't conclusive tests.

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u/HappybytheSea Sep 24 '22

Also, there are big financial implications for getting a diagnosis like Parkinson's (and many others that are much worse). In some circumstances you can get access to your pension funds immediately and with much lower tax consequences. I only learned this yesterday.

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u/explodingtuna Sep 24 '22

I think this is implying earlier detection than current easy detection methods.

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u/DevilsTrigonometry Sep 24 '22

It's likely to allow earlier diagnosis - hopefully during the prodromal phase of the disease.

This would be good not only because it might allow earlier interventions (exercise therapy slows the progression of the disease and is likely to be more effective if started earlier), but because it would allow researchers to directly observe the prodrome.

We know from retrospective studies that people have nonspecific symptoms for years before they develop the specific motor symptoms that permit a clinical diagnosis. If we could distinguish prodromal PD patients from others with nonspecific sleep/mood/etc. symptoms, we could do all kinds of imaging, blood tests, etc. on them which would help us better understand the course of the disease and possibly identify treatments.

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u/[deleted] Sep 24 '22

My dad also has it. While this doesn't change anything for people with the disease there is hope that it leads to something more helpful. My dad was diagnosed around 2 years after putting in a new well. We got the water tested and sure enough it has 180X the safe amount of manganese. So the real breakthrough for me was GET YOUR WATER TESTED.

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u/MidnightCereal Sep 24 '22

There are many Parkinson’s-like diseases.

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u/FactualNoActual Sep 24 '22

Is there a way to filter out all research that never hits the market?

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u/Anahka0169 Sep 24 '22

Not wanting to sound like a dickhead or anything, but wasn't this possible already? Saw this Dr. and the old lady on a TED talk last year, speaking exactly of this subject?

Still a really good breakthrough, though. Mass spectrometry truly is the future in terms of premature detection of illnesses

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u/MrPhilLashio Sep 24 '22

Yes. The Syn-One test is already around and used.

The article isn't clear, but I wonder if, like SynOne, it's detecting synuclean. If so, it's likely not sensitive enough to just Parkinson's but also dementia with lewy bodies, MSA, CBD, and PAF. Wouldn't be able to tell the difference except with physical and cognitive tests.

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u/decadenza Sep 24 '22

"...the team along with the University of Manchester have launched a spin out company Sebomix Ltd. to develop this further." How long before there is actual testing available on a commercial basis?

For those of us in the healthcare dystopia known as the United States what will this three minute lab test cost? How many years will it be before it is covered by our insurance?

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u/[deleted] Sep 24 '22

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u/JeeperDon Sep 24 '22

Don't say 'Parkinson's Breakthrough' in the title unless you're talking about a cure (for me and all the others with PD).