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Overview |
Fatal Insomnia is a prion disease with symptoms including insomnia, mental deterioration, and loss of coordination. It predominantly affects the thalamus. Fatal Familial Insomnia (FFI) is inherited. Sporadic Fatal Insomnia (SFI) occurs spontaneously. |
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Symptoms |
Typical early symptoms: severe insomnia that continues to worsen, accompanied by ataxia (inability to coordinate movements) and mental confusion. Dementia and weight loss increase over time. May also include excessive sweating, unsteady gait, jerky eye movements, double vision, dysarthria, high blood pressure, hyperventilation, excessive tearing, hallucinations, panic. |
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Type |
Generally genetic (with rare cases of Sporadic Fatal Insomnia) |
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Occurrence |
At least 25 known families, rarest genetic prion disease |
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Duration |
A few months to 5 years |
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Age of onset |
Mid-life, typically 30s, 40s, 50s |
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Diagnosis |
Clinical examination, family history, genetic testing, polysomnography (sleep study) and positron emission tomography, spinal fluid testing (RT-QuIC). Fatal Insomnia, particularly sFI, is confirmed by autopsy. (Contact the CJD Foundation for specifics). |
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Mutation |
D178N-129M |
Resources:
- Merck Manual - Fatal Insomnia
- National Institutes of Health - Fatal Familial Insomnia
- Inherited prion disease, MRC Prion Unit http://www.prion.ucl.ac.uk/clinic-services/information/inherited-prion-disease/
- Genetic Prion Diseases, GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1229/)
- Kong Q et al. Inherited Prion Disease, In: Prion Biology and Diseases, Ed. Stanley Prusiner, Cold Spring Harbor Laboratory Press: 2004, pp. 673-775
- We suggest the book, "The Family that Couldn’t Sleep" by DT Max
- Sonia and Eric’s Story