filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
filezilla download
Health Inset > Diseases and Conditions > Fatal Familial Insomnia

Fatal Familial Insomnia

Fatal Familial Insomnia (FFI) is one of the most dangerous forms of insomnia in which the patient cannot sleep at all and the sleep deprivation ultimately causes death of the individual. Read on to know what this condition is, what its causes are and how is it treated.

Fatal Familial Insomnia Definition

It is a very rare genetic prion disease generally caused by protein mutation. It is a serious sleep disorder that can cause death of the patient within months after the condition is first diagnosed. This type of fatal insomnia can also be caused by non-inherited mutation variant. It was first discovered in Italy in the year 1974 by DR Ignazio Roiter.

Fatal Familial Insomnia Stages

FFI is divided into four stages depending upon the progression of the disease:

Stage 1

It is marked by the early symptoms of FFI. It can be described as progressive insomnia and lasts for around four months. An individual suffering from this stage may experience severe panic attacks and have different phobias.

Stage 2

This is the second phase which lasts for approximately five months and causes serious symptoms of sleeplessness.

Stage 3

This is an advanced stage and is characterized by total insomnia which means an individual suffering from Stage 3 FFI cannot sleep at all. The duration of this stage is about 3 months.

Stage 4

It is the final stage of the condition in which the patient suffers from the most dangerous symptoms of this sleeping disorder. The maximum duration of this stage can be up to 6 months over which period the patient gradually becomes unresponsive and mute. The fourth stage is known as “dementia” because it can cause sudden death of the patient after becoming mute.

Fatal Familial Insomnia Causes

This disorder is mainly caused by protein mutation. According to various researches, FFI is classified as a progressive neurodegenerative prion disorder. Prions are defined as protein molecules that occur naturally and do not have a nucleus. These also lack any DNA and RNA. The functions of these molecules are still unknown. However, mutation of these molecules is believed to be the main factor behind this sleeping disorder.

The mutation replaces one amino acid with another. This abnormality in amino acids, the main building blocks of all proteins, causes protein misfolding. These dysfunctions in the proteins ultimately lead to the death of many important nerve cells in the brain and causes scarring changes (Gliosis) in the thalamus.

In some cases, this disorder can result from new protein mutations instead of any genetic factor. It means FFI can affect individuals who do not have any family history of the disease.

Fatal Familial Insomnia Pathophysiology

The thalamus part of the brain is responsible for channeling all the communications between the brain and the body. When an individual sleeps, the thalamus becomes quite inactive and does not transfer the brain signals with the normal amount of efficiency. This results in deep sleep. In case of FFI, the thalamus is affected and damaged due to the mutation of proteins. This results in the progressive insomnia.

There are three different stages in the normal sleeping pattern of an individual:

REM-sleep

This is the stage of the sleeping pattern when dreams occur.

Non REM Stages 1 and 2

This stage is also known as NREM-sleep and is characterized by light sleep.

Non REM Stages 3 and 4

It is characterized by deep and slow wave sleep.

The gene PRNP provides instructions for the composition of the prion protein called PrPC and is located on the chromosome 20 at the position p13. Individuals suffering from either Fatal Familial Insomnia or the Creutzfeldt-Jakob disease (CJD) show a mutation in the codon 178 of prion protein gene. FFI is associated with the presence of methionine codon at the position 129 of mutant allele while CJD is related to the valine codon present at the same position.

Fatal Familial Insomnia Inheritance

It is believed to follow the autosomal dominant inheritance pattern which means a child can inherit this condition from one affected parent. A child runs 50% risks of having FFI at birth if he or she has one parent with this prion disease. However, the onset of its symptoms does not occur until one surpasses the child-bearing age. So it is very likely that the parent will pass on the abnormal gene to his or her child without knowing.

Fatal Familial Insomnia Symptoms

An individual suffering from this disorder experiences the following symptoms in the different stages:

  • Inability to sleep
  • Progressive insomnia
  • Hallucinations
  • Excessive sweating
  • Fever
  • Headache
  • Mood swings
  • Pinpoint pupil
  • Speaking difficulty
  • Tremor
  • Stupor
  • Menopause (in women)
  • Impotence (in men)
  • Frequent panic attacks
  • Various types of phobia
  • Paranoia
  • Increase in the blood pressure
  • Neck stiffness
  • Sleepiness during daytime
  • Constipation
  • Increased heart rate
  • Disturbances in the functioning of the sphincter, the ring of muscle that allows the normal physiological functioning by relaxing and contracting
  • Motor problems like ataxia, myoclonus, dysphagia and dysarthria
  • Gradual loss of the ability to speak
  • Rapid weight-loss
  • Occasional muscle twitching
  • Spasms

Fatal Familial Insomnia Prevention

There is no known way of preventing the condition. Couples with a family history of this hereditary disorder should consider genetic counseling before deciding to have a child. Genetic testing may be beneficial for determining whether the parents are likely to have the condition later in life. This can help couples understand the chances of their having a child with this sleep disorder.

Fatal Familial Insomnia Diagnosis

Doctors study the symptoms present in the patient and their progression. A patient is asked various questions regarding the symptoms. The onset of the symptoms generally occurs when an individual is 30 years to 60 years old. The initial symptoms are sleeplessness or insomnia along with panic attacks and phobias. A patient is likely to suffer from more severe symptoms like hallucinations, agitation and sever weight loss during the more advanced stages of the disease. Doctors study these symptoms carefully in order to make the diagnosis.

EEG (electroencephalogram) analysis of individuals suffering from FFI and the associated disorder named Creutzfeldt-Jakob disease displays abnormalities in the spindles during sleep. FFI patients display complete disappearance of the EEG spindles.

In some cases, other diagnostic tests like MRI and blood tests may also be used for confirming the diagnosis. Blood tests help to confirm if there is any mutation in the PrP gene while MRI is done to rule out the possibility of other conditions like tumor.

Fatal Familial Insomnia Treatment

There is no established procedure that can cure the disorder. Generally, this condition cannot be cured completely as it is not possible to reverse the course of the symptoms resulting from the protein mutation. Scientists are trying to find effective treatment for FFI. Some studies show that addressing the symptoms with proper remedies can improve the quality of life of an individual with the sleeping disorder.

Gene therapy has proved to be unsuccessful in bettering the condition of an FFI patient. Barbiturates and sleeping pills are also unhelpful. These may even contribute to the deterioration of the symptoms of the disease and accelerate its course.

In one instance, a patient lived one year longer than what was expected by taking anesthesia stimulants, vitamin supplements, light therapy, narcoleptics and growth hormones along with regular exercise. However, this treatment strategy requires further investigation before it can be used for treating FFI patients in general. This is because the simultaneous application of all the approaches led to various medical emergencies like cardiac arrhythmia and stroke in the patient treated in this manner.

Complete sensory deprivation is sometimes used for inducing sleep at night and to increase alertness during daytime. However, the effectiveness of this treatment procedure is under research. ECT or electroconvulsive therapy is another possible treatment approach that can help a patient to have a longer life by inducing sleep.

Fatal Familial Insomnia Prognosis

It is not possible to get a positive prognosis by treating the disorder. FFI ultimately leads to the death of the patient with the main reason of death being extreme exhaustion. However, patients can live longer than expected in some cases with appropriate treatment options.

Fatal Familial Insomnia Life Expectancy

Individuals suffering from this prion disease generally die within twelve to eighteen months from the time they are first diagnosed with it. However, use of appropriate treatment measures can prolong their life expectancy by a few months to a year.

Fatal Familial Insomnia Incidence

Only 40 families in the entire world have been proved to have the mutated protein PrPSc which causes this type of fatal insomnia. Its prevalence statistics show that around 100 people around the world have the condition. The first recorded patient was an Italian male who died in Venice in 1765.

Fatal Familial Insomnia Support Groups

There are various forums and support groups who provide proper information and guidelines about FFI to spread awareness about the condition and encourage couples to undergo genetic testing before having a baby to understand the risks of passing the abnormal gene to the child. They also help patients to cope with the fatal disorder.

 

Fatal Familial Insomnia is an incurable fatal sleeping disorder which leads to the death of the patient within a short time. However, early diagnosis and appropriate treatment have been proved to be able to extend the life span of a patient.

Fatal Familial Insomnia Pictures

The following pictures show the damaged area in the brain responsible for FFI.

Picture of Fatal Familial Insomnia

Picture 1 – Fatal Familial Insomnia

Image of Fatal Familial Insomnia

Picture 2 – Fatal Familial Insomnia Image

References:

http://respiratory-care-sleep-medicine.advanceweb.com/Features/Articles/Fatal-Familial-Insomnia.aspx

http://www.world-of-lucid-dreaming.com/fatal-familial-insomnia.html

http://encyclopedia.thefreedictionary.com/Fatal+familial+insomnia

http://sleepdisorders.about.com/od/commonsleepdisorders/a/Fatal_Familial_Insomnia.htm

http://consults.blogs.nytimes.com/2010/06/24/can-you-die-of-insomnia/

By   Last updated November 5th, 2012

Leave a Reply

Your email address will not be published. Required fields are marked *

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>

Popular post

Ecstasy Side Effects

Ecstasy Side Effects Ecstasy is common name and other names include “E” or “X”. Methylenedioxymethamphetamine(MDMA)... 

What is Acute Fever?

Acute Fever An acute fever is defined as an increase in temperature to the condition above normal. Generally body’s... 

What is Hypertrichos ...

Hypertrichosis Abnormal Hair Growth Abnormal hair growth on the body is described as hypertrichosis.  Very abnormal...