Fatal familial insomnia
Other Names for this Disease
- Familial fatal insomnia
- Insomnia familial fatal
Tests & Diagnosis
- various, adult-onset neurologic signs and symptoms
- neuropathologic findings
- a family history consistent with autosomal dominant inheritance
- a PRNP disease-causing mutation
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.
Information about genetic testing for fatal familial insomnia is available on the Genetic Testing Registry's Web site.
- James A Mastrianni. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/. Accessed 7/3/2014.
- 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.