129 of the mutant allele, whereas CJD is linked to the presence of the valine codon at that position.
"The diseaseis where there is a change of amino acid at position 178 when an asparagine (N) is found instead of the normalaspartic acid (D). This has to be accompanied with a methionine at position 129."
Sporadic Fatal Insomnia
Only eight cases of sFI have ever been diagnosed as of July 2005.
In sFI there isno mutation in
-prion gene in D178N, but all have methionine homozygosity atcodon 129.
The age of onset is variable, ranging from 18 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following giving birth.The disease can be detected prior to onset by genetic testing.
Death usuallyoccurs between 7 and 36 months from onset. The presentation of the disease variesconsiderably from person to person, even among patients from within the same family.The disease has four stages, taking 7 to 18 months to run its course:1. The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.2. Hallucinations and panic attacks become noticeable, continuing for about five months.3. Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.4. Dementia, during which the patient becomes unresponsive or mute over the course of six months. This is thefinal progression of the disease, after which death follows.Other symptoms include profuse sweating, pinpoint pupils, the sudden entrance into menopause for women andimpotence for men, neck stiffness, and elevation of blood pressure and heart rate. Constipation is common as well.
In late 1983, Italian neurologist/sleep expert Dr. Ignazio Roiter received a patient at the University of Bolognahospital's sleep institute. The man, known only as Silvano, decided in a rare moment of consciousness to berecorded for future studies and to have his brain harvested for research in hopes of finding a cure for future victims.As of 2013, no cure or treatment has yet been found for FFI. Gene therapy has been thus far unsuccessful. While itis not currently possible to reverse the underlying illness, there is some evidence that treatments that focus solelyupon the symptoms may improve quality of life.
It has been proven that sleeping pills and barbiturates are unhelpful; on the contrary, in 74% of cases they have been shown to worsen the clinical manifestations and hasten the course of the disease.
One of the most notable cases is that of Michael (Michel A.) Corke, a music teacher from New Lenox, Illinois(born in Watseka, IL). He began to have trouble sleeping before his 40th birthday in 1991; following these firstsigns of insomnia, his health and state of mind quickly deteriorated as his condition worsened. Eventually, sleep became completely unattainable, and he was soon admitted to University of Chicago Hospital with a misdiagnosis