Fatal Familial Insomnia (FFI)

Fatal Familial Insomnia (FFI)

Article
Brain & Nerve
Behavioral & Mental Health
+1
Contributed byKrish Tangella MD, MBAMar 24, 2018

The topic Fatal Familial Insomnia (FFI) you are seeking is a synonym, or alternative name, or is closely related to the medical condition Familial Creutzfeldt-Jakob Disease (fCJD).

Quick Summary:

  • Familial Creutzfeldt-Jakob Disease (fCJD) is a rare, progressive degenerative disease of the brain that occurs following the inheritance of a mutated gene for a specific protein that acts in the brain, called prions
  • Prions are infectious pathogens, but are very different from other pathogens, such as bacteria, viruses, and fungi. They are unusual, because they lack both DNA and RNA molecules. Instead, prions are normal cellular proteins that take on an abnormal configuration
  • Prions are able to multiply by converting similar normal proteins in the brain into infectious abnormal forms, ultimately leading to the destruction of brain tissue. As a result, individuals with CJD develop dementia, involuntary muscle jerks (myoclonus), loss of motor coordination, and psychiatric symptoms
  • Familial Creutzfeldt-Jakob Disease is inherited in an autosomal dominant manner from generation to generation, which means that if one parent has the mutated gene, their child has a 50% chance of developing CJD
  • There is no cure for fCJD; the treatment provided is often symptomatic. The prognosis of Creutzfeldt-Jakob Disease is usually poor

Creutzfeldt-Jakob Disease is also known as subacute or transmissible spongiform encephalopathy. Several types of CJD exist. All types involve an abnormal form of a naturally-occurring protein in the central nervous system.

  • Sporadic Creutzfeldt-Jakob Disease (sCJD) is the most common form of the disorder and accounts for approximately 85% of all cases
  • Familial Creutzfeldt-Jakob Disease (fCJD) is an inherited form caused by genetic mutations on chromosome 20
  • Iatrogenic Creutzfeldt-Jakob Disease (iCJD) is an unintended consequence of medical therapy
  • New Variant (or Variant) Creutzfeldt-Jakob Disease (nvCJD or vCJD) is due to the consumption of contaminated beef from cattle affected by a similar disease, called bovine spongiform encephalopathy (BSE)

Please find comprehensive information on Familial Creutzfeldt-Jakob Disease (fCJD) regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

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