Fatal Familial Insomnia What is it? Fatal Familial Insomnia is a very rare genetic disorder that is a result of a mutation of a protein associated with brain tissue, this protein also known as the prion protein. The symptoms that show are a result of the degeneration of the area of the brain that deals with sleep, the thalamus. It has only been discovered in twenty-eight families of the world, proving just how rare it truly is. (Source 1, 4) Who gets it? This disease can affect anyone. There are no carriers for the disease, so if someone manages to get the mutation in their genes, they will suffer from the disease at some point in their lifespan. Parents have a fifty percent chance of passing the mutation for the disease to their children. The disease, however, does not normally show until a person reaches a middle-age, usually from about thirty to sixty with the age of fifty being the average. (Source 1, 3, 4)
Where does it affect? This disease affects the thalamus of the brain. The mutation of the prion protein causes the degeneration of the thalamus, resulting in insomnia because this section of the brain is responsible for sleep. (Source 1, 2)
Symptoms? This disease has baffled scientists and researchers alike for many years because many of the symptoms resemble other disorders and diseases that have already been discovered. But overall, there are four stages to this disease that span a time period of anywhere from seven to eighteen months. In the first stage, a person will experience progressive insomnia, the trademark of the disease. This stage usually spans over the first four months, and many times is accompanied by a psychiatric problems like panic attacks and weird phobias. The second stage is just a worse form of the first, including hallucinations, sweating, panic and agitation. This stage lasts approximately five months. The third stage brings about a noticeable loss of weight with total insomnia and usually lasts about three months. Finally comes the fourth and final stage, proving its fatality with dementia, total insomnia and sudden death after the person becomes mute. Since this disease does not usually show until the middle-ages, that also means that it appears after the childbearing years. This leads to the unfortunate fact that oftentimes, people have children without realizing they carry this disease, possibly passing it on since there is a fifty percent chance of the gene mutation. (Source 1, 4)
Treatment? Sleeping pills have absolutely no effect for people with Fatal Familial Insomnia. It has been said that not even non-medicinal therapies help. Scientists and researchers are unaware as to why this disease is so fatal, so that makes it especially hard to find an effective form of treatment. There is the small hope that this disease could possibly be treated by a current experiment known as gene therapy. This would consist of early diagnosis of the disease, and insertion of the correct gene to take the place of the mutated gene. This has not yet been accomplished, and since there are very few cases of the disease due to how rare it is, there have not been as many research projects made as with other sleeping disorders. (Source 1, 4)
Cases? So far there have only been a total of twenty-eight families in the world that have been found with the dominant gene for the disease. Because the disease is so rare, there has not been very much research conducted on it and a cure has yet to be found. (Source 4)
Areas of Impact? This disease has yet to become one of the more popular and well-known ones because of the fact that it is so rare. However, the research that has been done into it and the other diseases that are close to it will one day be helpful and necessary. There are many diseases that occur because of mutations in genes. Gene therapy is being experimented with, and not only will it be useful for those that do have Fatal Familial Insomnia, it is also safe to say that it can be used for other forms of diseases related to gene mutations. This will eventually impact a lot of the community that search for ways to cure those that currently have no cure. (Source 1)
What is it?
Fatal Familial Insomnia is a very rare genetic disorder that is a result of a mutation of a protein associated with brain tissue, this protein also known as the prion protein. The symptoms that show are a result of the degeneration of the area of the brain that deals with sleep, the thalamus. It has only been discovered in twenty-eig
Who gets it?
This disease can affect anyone. There are no carriers for the disease, so if someone manages to get the mutation in their genes, they will suffer from the disease at some point in their lifespan. Parents have a fifty percent chance of passing the mutation for the disease to their children. The disease, however, does not normally show until a person reaches a middle-age, usually from about thirty to sixty with the age of fifty being the average. (Source 1, 3, 4)
Where does it affect?
This disease affects the thalamus of the brain. The mutation of the prion protein causes the degeneration of the thalamus, resulting in insomnia because this section of the brain is responsible for sleep. (Source 1, 2)
Symptoms?
This disease has baffled scientists and researchers alike for many years because many of the symptoms resemble other disorders and diseases that have already been discovered. But overall, there are four stages to this disease that span a time period of anywhere from seven to eighteen months. In the first stage, a person will experience progressive insomnia, the trademark of the disease. This stage usually spans over the first four months, and many times is accompanied by a psychiatric problems like panic attacks and weird phobias. The second stage is just a worse form of the first, including hallucinations, sweating, panic and agitation. This stage lasts approximately five months. The third stage brings about a noticeable loss of weight with total insomnia and usually lasts about three months. Finally comes the fourth and final stage, proving its fatality with dementia, total insomnia and sudden death after the person becomes mute. Since this disease does not usually show until the middle-ages, that also means that it appears after the childbearing years. This leads to the unfortunate fact that oftentimes, people have children without realizing they carry this disease, possibly passing it on since there is a fifty percent chance of the gene mutation. (Source 1, 4)
Treatment?
Sleeping pills have absolutely no effect for people with Fatal Familial Insomnia. It has been said that not even non-medicinal therapies help. Scientists and researchers are unaware as to why this disease is so fatal, so that makes it especially hard to find an effective form of treatment. There is the small hope that this disease could possibly be treated by a current experiment known as gene therapy. This would consist of early diagnosis of the disease, and insertion of the correct gene to take the place of the mutated gene. This has not yet been accomplished, and since there are very few cases of the disease due to how rare it is, there have not been as many research projects made as with other sleeping disorders. (Source 1, 4)
Cases?
So far there have only been a total of twenty-eight families in the world that have been found with the dominant gene for the disease. Because the disease is so rare, there has not been very much research conducted on it and a cure has yet to be found. (Source 4)
Areas of Impact?
This disease has yet to become one of the more popular and well-known ones because of the fact that it is so rare. However, the research that has been done into it and the other diseases that are close to it will one day be helpful and necessary. There are many diseases that occur because of mutations in genes. Gene therapy is being experimented with, and not only will it be useful for those that do have Fatal Familial Insomnia, it is also safe to say that it can be used for other forms of diseases related to gene mutations. This will eventually impact a lot of the community that search for ways to cure those that currently have no cure. (Source 1)
Video
Sources
1. http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/AAkroush.html
2. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600072
3. http://serendip.brynmawr.edu/exchange/node/519
4. http://www.sleepdisorders.theinfovillage.com/fatalfamiliarinsomnia.html
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