General
Fatal familial insomnia (FFI) is a very rare genetically determined brain disorder. It belongs to the group of prion diseases, which are characterized by an extremely long incubation period (months, years, or even several decades) and a slow, irreversible course. It is an incurable spongiform encephalopathy, typically marked by degeneration of central neurons and spongiform (sponge‑like) changes of the brain. The disease inevitably leads to dementia and coma.
The usual age of onset of the first symptoms is between 25 and 60 years. Death typically occurs 7–36 months after symptom onset.
Diagnosis
Diagnosis is based on supportive investigations, including EEG, magnetic resonance imaging (MRI), cerebrospinal fluid analysis, and examination of brain tissue samples.
Therapy
No effective therapy is currently known. Recently, promising reports have emerged regarding potential treatment approaches using small molecules that stabilize the alpha‑helical structure, thereby preventing its conversion into the beta‑sheet structure, which represents the pathological conformation.
- progressively worsening insomnia leading to complete loss of sleep
- memory impairment
- exhaustion
- anxiety attacks
- irritability
- tachycardia – increased heart rate
- high blood pressure
- profuse sweating
- constipation
- constricted pupils
- blurred or double vision
- body tremor
- personality changes
- depression
- unjustified phobias
- catatonia
- uncoordinated movements
- jerky, involuntary eye movements
- slurred speech
- REM hallucinosis – dream‑like experiences during full wakefulness
- weight loss
- loss of sense of balance
- muscle pain
- muscle twitching
- eventually inability to move or communicate
- altered consciousness
- stiff neck
- terminal phase: dementia, coma, and ultimately death
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