Fatal insomnia is a very rare neurodegenerative disease characterized by progressively worsening insomnia and eventual death. In this video, I explain the symptoms of fatal insomnia as well as what happens in the brain during the disease.
TRANSCRIPT:
Fatal insomnia is a very rare terminal condition characterized by difficulty sleeping that becomes progressively worse over time. Although the disease is typically genetic in origin, some sporadic cases without a clear genetic basis have also been documented. The condition usually begins in middle age or later, and early symptoms include trouble sleeping as well as autonomic nervous system disturbances, such as increased body temperature and increased heart rate.
The disease gets worse over time as the amount of sleep patients get continues to decline. Patients will sometimes lapse into a state of unresponsiveness during which they make involuntary movements that seem to be related to acting out dreams, and they can develop a variety of additional symptoms including difficulties with balance and coordination, trouble speaking and swallowing, hallucinations, and personality changes. Eventually, most patients lose the ability to enter deep sleep at all, and fall into a stupor that it is difficult to rouse them from. This stupor sometimes leads to coma, and the disease is always fatal, with death occurring in just over 18 months on average.
Fatal insomnia is a prion disease, meaning it is associated with the conversion of a protein called prion protein into a form that cannot be broken down. The new pathological form of prion protein accumulates in the brain, and its accumulation is associated with the death of neurons and other pathological changes such as the brain taking on a spongy texture. The neuronal death eventually becomes insurmountable and is linked to the death of the patient. In fatal insomnia, the most severe neuronal loss often occurs in the thalamus and inferior olivary nuclei, but pathological changes are sometimes seen through other areas of the brain such as the cerebral cortex. Damage to the sleep-promoting regions of the thalamus is thought to be especially important to causing the insomnia that occurs in the disease.
REFERENCES:
Cracco L, Appleby BS, Gambetti P. Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol. 2018;153:271-299. doi: 10.1016/B978-0-444-63945-5.00015-5. PMID: 29887141.
Montagna P. Fatal familial insomnia and the role of the thalamus in sleep regulation. Handb Clin Neurol. 2011;99:981-96. doi: 10.1016/B978-0-444-52007-4.00018-7. PMID: 21056239.
Montagna P, Gambetti P, Cortelli P, Lugaresi E. Familial and sporadic fatal insomnia. Lancet Neurol. 2003 Mar;2(3):167-76. doi: 10.1016/s1474-4422(03)00323-5. PMID: 12849238.
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Can you imagine never being able to sleep again? That is exactly what happens to patients with Fatal Familial Insomnia. This rare genetic disorder leads to progressive neurodegeneration in the brain, ultimately stopping patients from sleeping ever again. Even though they may look like they are asleep, their brain is really awake! From when symptoms begin, patients have approximately one year to live, before their body breaks down to the point of no return.
Link to infographic: https://www.instagram.com/demystifyingmedicinemcmaster/p/C1DJFgaxLB-/?img_index=1
This video was made by McMaster University students Andia Tofighbenam, Nishara Vathanakumaran, Sharafat Syed, and Trevor Wong, in collaboration with the Demystifying Research McMaster Program.
We would like to thank Dr. Zen Faulkesfor reviewing the content of this video and providing valuable feedback.
This video is for general and educational purposes only. Please consult your healthcare provider for information about your health.
#insomia #FatalFamilialInsomnia #cantsleep #FFI
Copyright McMaster University 2023.
References:
Genetics and Rare Diseases Information Center (2016). Fatal familial insomnia.https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia.
Harvard Health Publishing. (2022). Treating insomnia may head off depression.https://www.health.harvard.edu/mind-and-mood/treating-insomnia-may-head-off-depression
Khan, Z., & Bollu, P. C. (2022, May 8). Fatal Familial Insomnia. Nih.gov; StatPearlsPublishing.https://www.ncbi.nlm.nih.gov/books/NBK482208/#:~:text=Fatal%20familial%20insomnia%20is%20a,prion%20protein%20(PRNP)%20gene
Lindsley C. W. (2017). Genetic and Rare Disease of the CNS. Part I: Fatal Familial Insomnia(FFI). ACS chemical neuroscience, 8(12), 2570–2572. https://doi.org/10.1021/acschemneuro.7b00463.
Llorens, F., Zarranz, J. J., Fischer, A., Zerr, I., & Ferrer, I. (2017). Fatal familial insomnia:Clinical aspects and molecular alterations. Current neurology and neuroscience reports, 17, 1-7.https://doi.org/10.1007/s11910-017-0743-0
National Organization of Rare Disorders. (2022). Fatal Familial Insomnia.https://rarediseases.org/rare-diseases/fatal-familial-insomnia/
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