Fatal insomnia

Fatal insomnia
Cranial imaging of an FFI patient. In the MRI, there are abnormal signals in the bilateral frontoparietal subcortical area. MRA showed smaller distal branches of cerebral arteries.
SpecialtyNeurology, psychiatry, sleep medicine, neuropathology
SymptomsProgressive insomnia, ataxia, double vision, weight loss, high blood pressure, excessive sweating
ComplicationsPermanent state of hypnagogia later in the illness
Usual onset45–50 years old[1]
TypesFatal familial insomnia, sporadic fatal insomnia[2]
CausesGenetic mutation, sporadic form (very rare)
Risk factorsFamily history
Diagnostic methodSuspected based on symptoms, supported by sleep study, PET scan and genetic testing (if familial form is suspected)[3]
Differential diagnosisAlzheimer's disease, frontotemporal dementia, other transmissible spongiform encephalopathies[4]
PreventionNone
TreatmentSupportive care[2]
MedicationNone
PrognosisInvariably fatal
Frequency70 families worldwide are known to carry the gene associated with the disease, 37 sporadic cases diagnosed (as of 20 September 2022)
Deaths<1 per year

Fatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom.[2] The majority of cases are familial (fatal familial insomnia [FFI]), stemming from a mutation in the PRNP gene, with the remainder of cases occurring sporadically (sporadic fatal insomnia [sFI]). The problems with sleeping typically start out gradually and worsen over time.[4] Eventually, the patient will succumb to total insomnia (agrypnia excitata), most often leading to other symptoms such as speech problems, coordination problems, and dementia.[5] It results in death within a few months to a few years, and there is no known disease-modifying treatment.[2]

  1. ^ "Fatal Familial Insomnia". NORD (National Organization for Rare Disorders). Retrieved 21 September 2022.
  2. ^ a b c d "Fatal Insomnia – Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 17 May 2019.
  3. ^ "Fatal familial insomnia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 17 May 2019.
  4. ^ a b "Fatal Familial Insomnia". NORD (National Organization for Rare Disorders). Retrieved 17 May 2019.
  5. ^ "Fatal Insomnia". Merck Manual. Retrieved 4 May 2018.
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