In 1984, a man in Venice, Italy, was dancing with his mother when he found his body overheated and drenched in sweat, ostensibly without reason. But he was terrified the reason was something he and his mother knew a lot about: a disease that had killed family members since the early 18th century.
That man is known only as Silvano, to protect family privacy. But “Fatal Familial Insomnia” (FFI), named after his family’s condition, is well-known to the medical world.
Silvano undoubtedly sweated more profusely when, looking in a mirror, he found his pupils were black pinpoints, and his stare glassy, like his deceased father’s and two siblings’. Silvano’s conditions were all symptomatic of FFI.
The onset of almost total insomnia is the scariest symptom, for death usually occurs 12-18 months later. Silvano’s sister persuaded him to divulge his condition and family secret to Dr. Pietro Cortelli of the University of Bologna.
Silvano showed Dr. Cortelli a genealogical tree identifying victims of his “family curse” for over 200 years. He offered Cortelli his own brain for scientific study following death, and said, “I’ll stop sleeping and within eight or nine months, I’ll be dead.” Sure enough, Silvano died soon after.
With Silvano’s brain, Cortelli and American colleagues found places in the thalamus which looked like a sponge full of wormholes. The damage resulted from a misshaped protein that caused a gene mutation affecting the thalamus.
FFI is an inherited neurodegenerative disease: no cure, always fatal. There is, however, now a test to tell if you’ve inherited it, assuming you’d want to know.
Silvano’s thalamus helped neuroscientists from the University of Bern identify the thalamus as the single sleep-wake controller. Previously, multiple brain areas were thought to control sleep.
Not much is known about sleep, nor is there consensus about why we sleep. It puzzled Aristotle so much that he wrote a book about it and attributed it to “vapors.” Then again, they were big on attributing vapors to a lot of things in 350 BC.
What we do know about sleep is fascinating. Before 1924, sleep was presumed a passive state. Then Hans Berger invented the electroencephalogram (EEG), which revealed electrical patterns and activity produced by the sleeping brain.
In 1953, Nathaniel Kleitman, the “father of sleep research,” used EEG to discover that rapid eye movements (REMs), a swivelling of the eyeballs, positively correlated with a sleeping person’s dreams.
Prior to REM sleep comes deep (non-REM) sleep: relaxed muscles, slow breathing and slow brain waves. Less oxygen-carrying blood is required, leaving room for slow brain waves to usher in cerebrospinal fluid to wash away toxins associated with neurodegenerative diseases like Alzheimer’s. During awake states, brains accumulate toxins, like muscles accumulate lactate.
Back to FFI. It is rare; but it begs the question of whether you can also die from normal sleep deprivation. Neuroscientists say “yes,” though they can’t explain how, not yet.
Unlike FFI, there’s no established causal links between conditions and death from sleep deprivation — except for vehicle accidents.
After 24 hours without sleep, the human brain begins to “microsleep,” literally putting itself to sleep for 10 to 20 seconds at a time. Sleep-deprived drivers may simply feel drowsy, but the National Highway Traffic Safety Administration says drowsy driving causes 1,500 fatalities annually.
It is also known that animals entirely deprived of sleep die within weeks. Rats die within two weeks. Numerous studies show that humans 45 and older who sleep fewer than six hours per night are significantly more likely to suffer strokes and heart attacks.
Like many of our body functions, normal sleep syncs to a day-night routine — the result of millions of years of evolution. Sleep deprivation deprives the brain of opportunity to synchronize with the circadian rhythms from our planet’s rotation that are evident in almost every lifeform. Melatonin, for instance, is a hormone that promotes sleep when its production increases with darkness; it then decreases with dawn.
Night-shift work dramatically disrupts normal sleep routines. One study of over 2 million individuals found that working night shifts increased the risk of a heart attack or stroke by 41 percent. Permanent night-shift workers were 29 percent more likely to develop obesity. The risk of cancer was elevated so much that the World Health Organization classified night-shift work as a probable carcinogen.
Dr. Matthew Walker, an expert in sleep at the University of California, says that “sleep deprivation makes one more likely to die of a heart attack, get cancer, and (it) increases your risk of death, generally.”
Notwithstanding, in 2019, the National Institutes of Health reported that scientists had identified a gene that causes particular people to naturally sleep less than six and a half hours without apparent ill effects. You might have that gene. Then again, you might not.
The U.S National Sleep Foundation says the ideal length of sleep is seven to nine hours for adults. So, get your beauty-sleep.
“Alexa, play me some sleep music.”
Michael Smith is a Southern Pines writer.