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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Fatal familial insomnia


Other Names for this Disease

  • Familial fatal insomnia
  • Insomnia familial fatal
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Tests & Diagnosis

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How is fatal familial insomnia diagnosed?

There are no formal criteria for a diagnosis of genetic prion diseases, but a diagnosis generally requires a combination of:
  • various, adult-onset neurologic signs and symptoms
  • neuropathologic findings
  • a family history consistent with autosomal dominant inheritance
  • PRNP disease-causing mutation[1]

The PRNP gene is the only gene in which mutations are known to cause genetic prion diseases, including fatal familial insomnia. Finding a mutation in this gene is necessary to confirm a diagnosis in a person with symptoms. Testing of the PRNP gene may not detect all disease-causing mutations, so if a mutation is not found, a person may still have the disease. Other studies such as EEG, brain imaging, or examining cerebrospinal fluid may be helpful in supporting a diagnosis, but none of these can diagnose a genetic prion disease on its own.[1]

Information about genetic testing for fatal familial insomnia is available on the Genetic Testing Registry's Web site.



Last updated: 7/3/2014

References
  1. James A Mastrianni. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/. Accessed 7/3/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Familial fatal insomnia
  • Insomnia familial fatal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.