Fatal Familial Insomnia

From LoveToKnow Sleep

Fatal familial insomnia is a fatal form of insomnia that is passed genetically through a small number of families worldwide.

Fatal Familial Insomnia: The Details

This is a very rare fatal disease of the brain that is passed between the descendants of 40 families in the world. The disease causes a person to become unable to sleep.

Cause

The disease is called a prion disease because it is caused by a protein mutation in the brain. For some unknown reason, a protein molecule is unable to correctly bond with another protein molecule. The result is a protein molecule that is insoluble protein –like a form of plaque. Tiny bubbles begin to form in the brain cells in the thalamus – the part of the brain that controls sleep. Eventually the cells die, leaving a tiny hole where the cell used to be.

Patient Profile

Fatal familial insomnia is hereditary. If one parent has the gene, then each of their children has a 50 percent chance of inheriting the gene and eventually getting the disease. The disease's first signs begin when the person is anywhere between 30 to 60 years of age; however, on average, the disease does not start until about age 50.

Symptoms

The disease is diagnosed by three factors:

  • The very predictable symptoms
  • A family history of the disease
  • Genetic testing which confirms if the person has inherited the mutated chromosome

The disease symptoms intensify over time from general insomnia to dementia. There are four basic stages, which can last in total from seven months to three years:

  • Stage One – The person will start to have difficulties falling asleep. The increasing insomnia may also lead to panic attacks and phobias. The person may also have muscle problems such as twitching, stiffness and spasms.
  • Stage Two – During this stage the panic attacks will become more noticeable and the person may start to have hallucinations.
  • Stage Three – At this point the person is usually completely unable to sleep. They may start to experience a rapid weight loss.
  • Stage Four – The person will become unresponsive or mute during this time as dementia sets in.

Treatment

There is no treatment or cure for the disease. A person cannot live without sleep so the disease is ultimately fatal. A doctor will try to treat the symptoms to improve the quality of life as much as possible for the patient. Sleeping medications are not provided since to do so usually results in the rapid onset of a coma.

Patient Zero

The first case (called Patient Zero by disease researchers) was detected in 1974 by Ignazio Roiter an Italian doctor. He knew of two women from one family who both died of insomnia. With further investigation, he learned that their family records showed a long history of family deaths due to insomnia.

Researchers believe that the disease began over 250 years ago by a wealthy Venetian doctor who carried the original mutated gene. The doctor died of the disease in 1765. Several of his children died from the disease before they became adults. Two of his adult children later died of the disease after passing the disease to their children, who in turn died of the disease. Over time, the disease has passed through many generations and is now carried in 40 families worldwide.

Research and the Future

Research is underway to find a cure for the disease and other related diseases in the "prion" disease family such as mad cow disease. Specific research is being done on gene therapy. This research may also hold the key for treatment of more common diseases such as Alzheimer's and Parkinson's. Additionally, a drug called Quinicrine is currently being tested as a potential treatment.

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