Self-Management of Fatal Familial Insomnia: Case Report (2006)
ncbi.nlm.nih.govWhat 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.
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.
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?
Definitely not an expert, but I think it means you have a gene which causes eventual production of a prion. I.e., you produce proteins which have the potential to misfold; eventually this happens and prion disease begins.
I'm a physician, and I have exactly the same thought.
It's not a prion per se, but it's a genetic mutation affecting PRNP (prion protein).
Excellent. Thank you.
This is a story of incredible determination.
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.
I hesitate to call this nightmare fuel...
It's truly wild that he was taking cross-country road trips
He is a hero