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Fatal Familial Insomnia

Fatal Familial Insomnia. Maria McClatchey. Description. Mainly affects the body’s ability to sleep Also causes: Hallucinations Paranoia Phobias Weight loss Death. Cause. There is a mutation in PRNP (codes for prion protein) on chromosome 20. This mutation makes the protein insoluble.

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Fatal Familial Insomnia

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  1. Fatal Familial Insomnia Maria McClatchey

  2. Description • Mainly affects the body’s ability to sleep Also causes: • Hallucinations • Paranoia • Phobias • Weight loss • Death

  3. Cause • There is a mutation in PRNP (codes for prion protein) on chromosome 20. • This mutation makes the protein insoluble. • When it converts, the protein causes plaque to form in the thalamus, which is the region responsible for regulation of sleep.

  4. Inheritance • The dominant gene responsible for FFI has only been found in 28 families world wide. • 5 of these are in the U.S. • If only one parent has the gene, the offspring have a 50% chance of getting the disease.

  5. Symptoms/Signs of the Disorder Four stages: 1. Increasing insomnia, paranoia, phobias (4 months) 2. Hallucinations (5 months) 3. Complete inability to sleep, rapid weight loss (3 months) 4. Dementia; person becomes unresponsive/mute (6 months) Death occurs between 7 to 36 months from onset.

  6. Treatment/Prevention • There is no cure for Fatal Familial Insomnia • Gene therapy has been unsuccessful so far. • Sleeping pills don’t help; they can actually speed disease progression. • Some scientists believe that a cure could be found in the next 10-15 years.

  7. Related Diseases • Finding a cure for FFI could open the door to finding cures for Alzheimer’s and Parkinson’s disease. • FFI is related to Mad Cow disease. Both diseases are caused by protein disorders.

  8. Support for Families • AssocizioneFamiliariInsonniaFamiliare Fatale • (Fatal Familial Insomnia Families Association) • Founded by the family of IgnazioRoiter, who first diagnosed FFI.

  9. Sources • http://en.wikipedia.org/wiki/Fatal_familial_insomnia • https://ssl.search.live.com/health/article.aspx?id=articles%2fwp%2fpages%2ff%2fa%2ft%2fFatal_familial_insomnia.html&q=Fatal+Familial+Insomnia • http://www.msnbc.msn.com/id/6822468/

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