creutzfeldt jakob disease

anonymous asked:

I'm writing a character that doesn't sleep until she literally can't stay awake and passes out from exhaustion, because she's afraid of sleeping. Are there any conditions that cause this and if someone is aware of the problem, how can they help her?

Oh, boy, Anon.  You have finally given me an excuse to talk about one of my favorite diseases.

So there’s this thing called “Fatal Familial Insomnia.” (FFI)  In short, you stop being able to sleep.  You go crazy.  Then you die.  

There are four stages to this disease:

  • 4 months - First, the character gets chronic insomnia.  They start getting paranoid, develop phobias, and begin having panic attacks.  They start experiencing severe physical symptoms (excessive sweating, constipation, etc.)
  • 5 months - The character begins having hallucinations and their panic attacks get much worse.
  • 3 months - The character rapidly loses weight and is completely unable to sleep.
  • Over the course of the next 6 months, the character develops dementia, becoming completely unresponsive and mute.  
  • Then they die.  Do not pass go, do not collect $200.  

There’s no cure.  Taking sleeping pills doesn’t work.  In fact, being sedated makes the disease worse, and shortens the time until death.  The only thing that’s even slightly helped someone with this disease is spending nights in complete sensory deprivation chambers.  Even then, they still died within a few years.

FFI is an incredibly rare disease, and it’s only found in about 40 families in the world - hence the “familial” part of the name.  Only about 100 people in the world today have tested positive for this disease.

So what causes such a horrifying thing?

Prions.

What the fuck is a prion, you ask?

Well, it’s something that can spread an infectious disease, just like bacteria or viruses.  But prions are different in that they’re made from something that’s usually normal inside the body - a protein - that has just been made wrong.  And it begins to spread its wrongness to other proteins.  These proteins basically begin to eat holes in your character’s brain.

Yes.  LITERAL HOLES.

Some prion diseases are fairly well known, such as Mad Cow disease, Creutzfeldt-Jakob disease, kuru, and scrapie. But FFI will always be my favorite.

This is probably not what you wanted, but I will take any excuse I can to talk about this disease. >_> Prions are terrifying and awesome.  But mostly terrifying.

Even still, looking at the symptoms experienced by people with FFI, who have severe, long-term insomnia, might help you writing your character.  If that still isn’t what you’re looking for, I should have the Demystifying the DSM for Sleep Disorders (including insomnia) early-ish next year :).

Get some sleep, y’all.  WHILE YOU CAN.

For more info:

http://www.bbc.com/future/story/20160118-the-tragic-fate-of-the-people-who-stop-sleeping

http://www.newyorker.com/books/page-turner/a-prion-love-story

Don’t go - Bucky Barnes

Originally posted by byrneing

Masterlist 


It wasn’t to happen that way. Life was being too hard with just you, it didn’t need one more person into the endless list of who you would hurt. It seemed a joke in a very bad taste of fate, where it gives a sweet to soon after take it from you by force. But you couldn’t avoid him, you had no will power to say no. You loved his company, loved face those deep blue eyes, loved how he could intrigue you and make you forget all the problems. And it looked like he feels the same thing, which made you feel bad for not making him go away and not tell him the truth. You were being selfish and the guilt did everything get even worse.

You looked at the calendar hanging on the wall, two months ago that you had met Bucky Barnes. Two months in which you managed to get the man who was hiding in guilty, you were able to make Bucky  talk more, interact with people and even smile more. Were times it was difficult, he returned to the initial state, but it was only you sing his name that the smile appeared. But today you didn’t feel very happy, scratching these two calendar months meant that you had only another two months maybe.

“James, you know how important it is for me, right?” you whispered, feeling your cheeks blush while playing with ryou fingers, you were already coming back to your apartment, you two had walked a few blocks enjoying the moonlight after dinner at a themed restaurant that he insisted on taking him.

“You are also very important to me, doll …” the brunette smirked, thinking how cute your behavior were, he allowed himself to take a hand to touch yours. “I wouldn’t be half of what I am if it were not for you, (Y / N).”

“Oh, James … You know very well that it was only your merit!” you smiled, blushing even more if it was possible, taking courage to look into his blue eyes and sigh softly.

“(Y / N), I wanted to ask you a question … If you say yes, I will be even happier.” Bucky took a deep breath, getting slightly anxious, licking his lower lip to dampening it before nibbling the same.

“Bucky, we can talk about it tomorrow? I need to wake up early and you too.” you formed a pout on your lips, feigning innocence, but you knew exactly what you were trying to avoid.

“Oh, yeah, baby.” the man scratched his neck a little lost, but then looking in your eyes he smiled affectionate. “Tomorrow then?”

“Yes, James.” you sighed, slowly approaching and standing on tiptoes to seal his lips with care and, before he could hug you to deepen the kiss, you walked away chuckling and running toward the door.

Bucky was nervous, it was a month that he didn’t see you, you seemed to avoid him in every way. Did not answer the calls, not answering the door and no one had the courage to talk about you. He  started to have a bad feeling, he could not sleep without having a nightmare with you. Then he decided he needed to force his presence in your life.

“You’re James, right?” a lady appeared behind him when he finally managed to open the door to your apartment, he just nod and she handed him a paper before returning to her apartment. “She’s in the Hospital Saint Hope, my dear.”

When Bucky appeared at the door of your hospital room, your eyes filled with tears and you began to cry not caring about your appearance. He walked slowly, feeling his heart beat too strong, he was afraid, he knew that hospitals and cries were not good signs. Once he was close enough, Bucky embraced you gently and kissed the top of your head.

“What happened, doll? Why you didn’t tell me?” blue eyes stared sore at you, making you swerve and stare at the floor.

“I have Creutzfeldt-Jakob disease. I’ve had altered vision, tremors and seizures even more now.” you murmured in a weak voice, feeling your body tremble slightly and you closed your eyes.

“It’ll be all right, my love. The doctors will help you get better.” Bucky tried to say firmly, trying to pass you safely.

“No, Bucky … It’s not like that.” you wanted make him go away from you, but you just hugged him as if it were your last chance. “I … I’m dying.”

Silence filled the room, the weight of your words slowly reaching Bucky. You returned to cry softly, feeling hopeless and too selfish to bring him to this kind of situation. But Bucky just held you even more against him while he allowed himself to mourn what he thought he had found with you. He lost his love even before officially love it.

Bugs - Part 1

Word Count: 2613

Pairing: Eventual Dean x Reader

Warnings: Language. Bugs? 

Tagging: @letsgetoutalive @aprofoundbondwithdean @spnfanficpond @pb-5minutefanfiction @desiringspnimagines @blacktithe7

Series Rewrite Masterlist


You pulled up to a little dive bar in Oklahoma, arguing, which shouldn’t come as a huge surprise to you but it often did. “You’re staying in the car with Sam!” Dean told you. 

“No, Dean, I’m not! I’m a better hustler than you.” You retorted. 

“Oh, princess, you are so not a better hustler than me and you’re still recovering from the giant hook slicing you like a fish. So no dice.” Dean said, as if the conversation was over. 

“I’m fine. That was like a week and a half ago! Plus, you made sure I was gonna be fine when you drugged me.” You said. 

“You knew about that?” Dean asked, his voice laced with a little bit of laughter but a little bit of fear. 

“Yes, obviously. So as an apology for that I will accept being permitted to come hustle some pool, dad.” You knew you’d won. 

“Fine. Come on.” Dean huffed. You smiled and followed him into the bar.

Keep reading

nature.com
Genetic mutation blocks prion disease
Unknown mechanism helped some people in Papua New Guinea escape historic, deadly outbreak.

Scientists who study a rare brain disease that once devastated entire communities in Papua New Guinea have described a genetic variant that appears to stop misfolded proteins known as prions from propagating in the brain1.

Kuru was first observed in the mid-twentieth century among the Fore people of Papua New Guinea. At its peak in the late 1950s, the disease killed up to 2% of the group’s population each year. Scientists later traced the illness to ritual cannibalism2, in which tribe members ate the brains and nervous systems of their dead. The outbreak probably began when a Fore person consumed body parts from someone who had sporadic Creutzfeldt-Jakob disease (CJD), a prion disease that spontaneously strikes about one person in a million each year.

Scientists have noted previously that some people seem less susceptible to prion diseases if they have an amino-acid substitution in a particular region of the prion protein — codon 1293. And in 2009, a team led by John Collinge — a prion researcher at University College London who is also the lead author of the most recent analysis — found another protective mutation among the Fore, in codon 1274.

Continue Reading.

Protein linked to Alzheimer’s could be spread during surgery, say researchers

Fragments of sticky proteins found in the brains of people with Alzheimer’s disease could potentially be spread to others via contaminated surgical instruments and other medical procedures, scientists warn.

Researchers called for further work into the possibility that metal instruments used in medical procedures could pick up harmful proteins which survive conventional sterilisation with formaldehyde.

The concern comes after scientists found that a small number of people who died from Creutzfeldt-Jakob disease (CJD) after being treated with growth hormone taken from cadavers, developed brain changes seen in Alzheimer’s disease.

“This is the first evidence of real-world transmission of amyloid pathology,” says molecular neuroscientist John Hardy of University College London (UCL). “It is potentially concerning.”

The small study indicated that potential routes of transmission, such as surgical instruments, should be investigated. Photograph: David Levene/the Guardian

Eating brains helped Papua New Guinea tribe resist disease

Research involving a former brain-eating tribe from Papua New Guinea is helping scientists better understand mad cow disease and other so-called prion conditions and may also offer insights into Parkinson’s and dementia.

People of the Fore tribe, studied by scientists from Britain and Papua New Guinea, have developed genetic resistance to a mad cow-like disease called kuru, which was spread mostly by the now abandoned ritual of eating relatives’ brains at funerals.

Experts say the cannibalistic practice led to a major epidemic of kuru prion disease among the Fore people, which at its height in the late 1950s caused the death of up to 2% of the population each year.

In findings published in the scientific journal Nature, the researchers said they had identified the specific prion resistance gene – and found that it also protects against all other forms of Creutzfeldt-Jakob disease (CJD).

“This is a striking example of Darwinian evolution in humans, the epidemic of prion disease selecting a single genetic change that provided complete protection against an invariably fatal dementia,” said John Collinge of the Institute of Neurology’s prion unit at University College London, which co-led the work.

Papua New Guinea Photograph: Lloyd Jones/AAP Image

"Look at the flowers, Julie. Aren't they beautiful?"

The last thing my grandmother said to me in the hospital. She was dying of Creutzfeldt-Jakob Disease. It was January in Michigan, there were no flowers. The disease made her hallucinate in her final days, but it’s always been my reminder to find beauty where no one else may see it.

OB Science Time: The Castor Disease

Episode 3x03 had a lot of science in it, so it’s time for a second edition of OB Science Time to discuss the science behind the Castor Disease, or “glitching”.

Scott says, upon examining Seth’s brain that “it looks like Swiss cheese” and he mentions encephalopathy as well as Creutzfeldt-Jakob disease. Encephalopathy is an umbrella of diseases categorized by an altered mental state, including symptoms such as loss of cognitive function, subtle personality changes, and inability to concentrate. We certainly saw these symptoms in Seth, with his inability to perform well on Paul’s syllogism test, as well as his violent outburts and his mutterings in the stairwell before his final episode.

Creutzfeldt-Jakob disease is caused by prions, which are misfolded proteins that then act as an agent to convert their properly folded counterparts into more prions. The classic result of these prions is a change in the gray matter of the brain, causing large vacuoles to form, giving the appearance of Swiss Cheese. Symptoms of this disease include memory loss, personality change, and hallucinations, as well as jerky movements and seizures.

My guess is that the Castor disease functions in a similar manner as these diseases. Scott also mentioned the presence of amyloid plaques in Seth’s brain, which are protein aggregates. These aggregates, which could be made up of prions, could be causing neurodegeneration, leading to the Castor glitches and altered mental states.

It will be interesting to see what Cosima and Scott do with this knowledge, and more importantly, how the Castor clones will go about finding a cure for their malfunction.

My ask is always open for any questions or comments, and you can find more OB Science Time here!! :D

There’s a real rage virus. When Mad Cow gets in humans, they call it Creutzfeldt-Jakob disease. Check out the symptoms:

  •    Changes in gait (walking)
  •    Hallucinations
  •    Lack of coordination (for example, stumbling and falling)
  •    Muscle twitching
  •    Myoclonic jerks or seizures
  •    Rapidly developing delirium or dementia

Sure, the disease is rare (though maybe not as rare as we think) and the afflicted aren’t known to chase after people in murderous mobs. Yet.

5 Scientific Reasons a Zombie Apocalypse Could Actually Happen

8 Seconds

This is for @2momsmakearight​​‘s X-Files Revisited Challenge (better late than never)  Word Count: 2525

Dana Scully, at some point, had lost count of how many times she’d sat in a hospital lounge, waiting to hear whether or not Mulder would be okay.  She considered restarting the count at midnight, if she had not yet discovered his prognosis.  The world outside was nervously celebrating the upcoming New Year, but for Mulder and Scully, it was just another day, another hospital; standard operating procedure, in their particular line of work.

 All year, the fervor over the start of a new millennium rose, bringing every type of doomsday prophet imaginable.  She couldn’t turn on the television without seeing another ominous warning about everything grinding to a halt as 1999 gave way to 2000.  There was even talk of apocalypse, which caused Scully’s eyes to automatically roll towards the heavens, every time she heard that word.

 It was almost fitting, in a way.  Mulder could be considered a trendsetter. 

Keep reading