The Curious Clinicians 120 - No Sleep for the Weary
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Dec 12, 2025 This discussion dives into the mysterious world of familial fatal insomnia, revealing its devastating effects on sleep. Avi explains why sleep is vital for brain health and immunity, tracing its evolutionary roots across species. The thalamus is highlighted for its critical role in sleep regulation, with autopsy findings showing its neuronal death. Prion proteins and their mutations are explored, alongside cutting-edge therapies like CRISPR and doxycycline trials. The personal stories of researchers add a touching layer to the science.
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Sleep Is Evolutionarily Essential
- Sleep is a conserved, essential state of brain restoration with systemic effects beyond cognition.
- Avi Cooper links sleep to immune and cardiovascular regulation and population-level mortality after daylight savings shifts.
Historic Family Case Sparks Discovery
- Avi recounts the 1986 NEJM case of a 53-year-old man who suddenly lost the ability to sleep and died nine months later.
- He describes tracing the syndrome in that Italian family back to the 1800s with many similarly afflicted relatives.
Thalamic Damage Explains Intractable Insomnia
- Familial fatal insomnia selectively destroys the thalamus, a key regulator of sleep-wake transitions.
- Thalamic prion accumulation disrupts non-REM and REM regulation, explaining the profound, intractable insomnia.