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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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Is genetic testing available for fatal familial insomnia?

Yes, genetic testing is available for PRNP, the gene known to cause fatal familial insomnia (FFI).[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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.
Last updated: 12/16/2014

How is fatal familial insomnia diagnosed?

A diagnosis of genetic prion disease is typically made based on a combination of the following:
  • Various, adult-onset neurologic signs and symptoms
  • Neuropathologic findings (diagnosis made by examining cells and tissues of the brain under a microscope)
  • A family history consistent with autosomal dominant inheritance
  • PRNP disease-causing mutation[1]

The PRNP gene is the only gene in which changes (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]
Last updated: 12/16/2014

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


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.