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The Story of Silvano and His Family
In the early 1980s, Silvano from Italy began to suffer from sleepless nights that never ended. No matter how tired he was, sleep wouldn’t come. What began as restless nights soon became an unbroken cycle of exhaustion. Soon, exhaustion gave way to weight loss, confusion, double vision, irregular eye movements and frightening hallucinations.
By 1983, he turned to doctors at the University of Bologna’s sleep institute, recognizing the same symptoms that had claimed his father and other relatives.
After his death, Silvano donated his body to science. His family’s tragic legacy was finally understood: Familial Fatal Insomnia (FFI), a rare inherited prion disease that robs the brain of sleep and, ultimately, life.
Fatal Familial Insomnia (FFI) is caused by a mutation in the PRNP gene, which provides instructions for making the prion protein (PrP). In healthy individuals, PrP is normally found on the surface of nerve cells and plays a role in cell signaling and protecting neurons. However, in FFI, a specific mutation in the PRNP gene, leads to the abnormal folding of this protein.
Misfolded prion proteins are toxic and have the ability to cause other normal prion proteins to also misfold, creating a chain reaction. These misfolded proteins accumulate in the brain and cause damage to neurons. In FFI, these affects the thalamus, the brain region responsible for regulating sleep, sensory input, and consciousness. The thalamus undergoes progressive degeneration, leading to moderate shrinkage and a hollowed-out appearance.
Difficulty falling or staying asleep
Hallucinations and confusion
Sudden weight loss
Loss of motor coordination
Progressive dementia
Coma and death
Most patients die within 12 to 18 months after symptoms appear. [1]
FFI does not spread from person but follows an autosomal dominant inheritance pattern. If one parent carries the PRNP mutation, each child has a 50% chance of inheriting it. Today, about 40 families worldwide are known to have this genetic mutation. [2]
Genetic testing can identify the mutation before symptoms develop. However, families often face difficult choices about whether to undergo testing, since there is currently no treatment.
The thalamus is central to regulating the body’s circadian rhythm. In FFI, damage to this region means the brain cannot properly transition between sleep stages. Patients may stay awake for long stretches or have only fragmented, non-restorative sleep. This lack of deep sleep accelerates mental and physical decline.
In 2018, researchers published studies that modeled the disease in animals to test possible therapies, but translating this knowledge into effective treatments for humans remains difficult.[3]
Silvano’s case and his family’s story remain some of the most widely studied examples of FFI.
References
Khan, Zalan, and Pradeep C. Bollu. 2024. “Fatal Familial Insomnia.” StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK482208/.
Chen, Y., et al. 2025. “Fatal Familial Insomnia: A New Case Description with Early Diagnosis.” Journal of the Neurological Sciences. https://www.sciencedirect.com/science/article/abs/pii/S1389945724005987.
Khan, Zalan Wahid. 2018. “Fatal Familial Insomnia.” StatPearls [Internet]. https://www.researchgate.net/publication/329774339_Fatal_familial_insomnia.
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