
Self-Management of Fatal Familial Insomnia: Case Report (2006) - ajmarcic
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781276/
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anyfoo
What a terrible condition. To me, a chronic insomniac (with fortunately
absolutely no indication or family history that what I have is anything more
than chronic, but intermittent insomnia), FFI always seemed like the grotesque
conclusion of insomnia, actually driving people insane and literally killing
them for lack of sleep. Which this article seems to confirm.

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Konohamaru
All prion diseases are kind of similar, but no, I don't think FFI is the worst
of them. The defining feature of FFI is rapid dementia and then death, not
necessarily insomnia.

I think Mad Cow Disease (new variant Creutzfeldt-Jakob Disease) is the worst
of them.

* Protracted course 1+ year from onset to death. Maybe 1.5 years is not unheard of.

* Almost purely psychiatric issues at the start, not even cognitive.

* But it ends in akinetic mutism, which is when you want to move, but a counterwill energes preventing you from moving, and you want to speak, but a counterwill prevents you from speaking. Locked-in syndrome.

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exhilaration
Can anyone explain what a "genetically transmitted neurodegenerative prion
disease" is? I thought prions were misfolded proteins found in the wild that
had to be ingested in order to cause disease. How can they be genetically
transmitted?

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bookofjoe
I'm a physician, and I have exactly the same thought.

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milesdyson_phd
It's not a prion per se, but it's a genetic mutation affecting PRNP (prion
protein).

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bookofjoe
Excellent. Thank you.

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bobowzki
This is a story of incredible determination.

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speculator
The fact that GHB failed to induce deep restorative sleep shows just how
broken sleep mechanics get in FFI. And despite that he tried to pursue his
life to the fullest. A truly remarkable story.

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alpineidyll3
I hesitate to call this nightmare fuel...

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brandonscott
It's truly wild that he was taking cross-country road trips

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kingkawn
He is a hero

