fatal familial insomnia

Also known as Insomnia familial fatal, Familial fatal insomnia, FFI, Insomnia, Fatal Familial, Fatal insomnia

Prion disease of the human brain

Key facts

Other names: Thalamic Creutzfeldt-Jakob disease
Specialty: Neurology , psychiatry , sleep medicine , neuropathology
Symptoms: Progressive insomnia , ataxia , double vision , weight loss , high blood pressure , excessive sweating , fever , agrypnia excitata , panic attacks , dementia , delusions , phobia's , tachycardia , vivid dreams
Complications: Permanent state of hypnagogia later in the illness, heart attack
Usual onset: 45–50 years old
Duration: 18 months (average)
Types: Fatal familial insomnia, sporadic fatal insomnia
Causes: PrP type 2 ( Genetic mutation (fCJD D178N-129MM/MV), sporadic form (sCJDMM2-T, very rare))
Risk factors: Family history
Diagnostic method: Suspected based on symptoms, supported by sleep study , PET scan and genetic testing (if familial form is suspected)
Differential diagnosis

Article

Fatal insomnia is a neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom. 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. Eventually, the patient will succumb to total insomnia (agrypnia excitata), most often leading to other symptoms such as speech problems, coordination problems, and dementia. It results in death within a few months to a few years, and there is no known disease-modifying treatment.

Signs and symptoms