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Fatal Insomnia

(Fatal Familial Insomnia; Sporadic Fatal Insomnia)

By Pierluigi Gambetti, MD, Professor of Pathology, Case Western Reserve University

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Fatal insomnia, which includes fatal familial insomnia and sporadic fatal insomnia, are rare hereditary or sporadic prion disorders causing difficulty sleeping, motor dysfunction, and death.

Fatal familial insomnia (FFI) results from an autosomal dominant mutation in the PrP gene. Average age at onset is 40 yr (ranging from the late 20s to the early 70s). Life expectancy is 7 to 73 mo. Early symptoms of FFI include increasing difficulty falling asleep and maintaining sleep, as well as cognitive decline, ataxia, and psychiatric symptoms. Sympathetic hyperactivity (eg, hypertension, tachycardia, hyperthermia, sweating) may occur later.

Sporadic fatal insomnia (sFI) lacks a PrP gene mutation. Average age at onset is slightly older and life expectancy is slightly longer than in FFI. Early symptoms include cognitive decline and ataxia. Sleep abnormalities are not commonly reported but can usually be observed during a sleep study.

Fatal insomnia should be considered as a rare possibility when patients have rapidly progressive cognitive impairment accompanied by behavioral or mood changes, ataxia, and sleep disturbances. Suspicion of FFI or sFI should prompt a sleep study by polysomnography. Genetic testing can confirm the diagnosis of the familial form. MRI and measurement of 14-3-3 protein and tau in CSF are not useful, but polysomnography and PET (which shows thalamic hypometabolism) can confirm the diagnosis.

There is only supportive treatment for fatal insomnia.