The Disease That Steals Sleep — Then Everything Else
Orrek
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The Disease That Steals Sleep — Then Everything Else
17 просмотров · 3 недели назад
Orrek
3 подписчика
17 просмотров · 3 недели назад
What if the one thing your brain can't survive without is exactly what a disease takes from you first?
Fatal Familial Insomnia is a rare genetic disorder that destroys the thalamus, the part of the brain that regulates sleep, until real rest becomes nearly impossible. First clinically described by Italian researchers in 1986 and traced to a single mutation on the PRNP gene, it's since been documented in more than 100 families worldwide. As it progresses, patients can go months without a true night's sleep — and sleep loss is only where it starts.
It's caused by a single inherited mutation with a 50% chance of passing to each child, and it raises a question anyone who's pulled an all-nighter has probably had: how much does the body actually need sleep to survive?
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SOURCES;
1. StatPearls (NCBI Bookshelf) – "Fatal Familial Insomnia" – https://www.ncbi.nlm.nih.gov/books/NB...
2. New England Journal of Medicine – "Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene" – https://www.nejm.org/doi/full/10.1056...
3. PMC – "Fatal familial insomnia with abnormal signals on routine MRI" – https://www.ncbi.nlm.nih.gov/pmc/arti...
4. NORD – "Fatal Familial Insomnia" – https://rarediseases.org/rare-disease...
5. Cleveland Clinic – "Fatal Familial Insomnia: Symptoms, Causes & Outlook" – https://my.clevelandclinic.org/health...
HASHTAGS: #science #disease #rarediseases #genetics #sleepscience