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Ffi Ppt Maria Mcclatchey

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Transcript

  • 1. 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  Associzione Familiari Insonnia Familiare Fatale  (Fatal Familial Insomnia Families Association)  Founded by the family of Ignazio Roiter, who first diagnosed FFI.
  • 9. Sources  http://en.wikipedia.org/wiki/Fatal_familial_insomnia  https://ssl.search.live.com/health/article.aspx?id=artic les%2fwp%2fpages%2ff%2fa%2ft%2fFatal_familial_ins omnia.html&q=Fatal+Familial+Insomnia  http://www.msnbc.msn.com/id/6822468/