Creutzfeldt–Jakob Disease (CJD) is a degenerative neurological disorder that is incurable and invariably fatal. CJD is at times called a human form of mad cow disease (bovine spongiform encephalopathy or BSE). CJD is caused by an agent called a prion. Prions are misfolded proteins that replicate by converting their properly folded counterparts, in their host, to the same misfolded structure they possess. The disease leads to rapid neurodegeneration, causing the brain tissue to develop holes and take a more sponge-like texture.
Classification
Types of CJD include :
1. variant (vCJD)
This is thought to be caused by the consumption of food contaminated with prions, which also cause BSE.
2. sporadic (sCJD)
This accounts for 85% of cases of CJD.
3. familial (fCJD)
This accounts for the majority of the other 15% cases of CJD.
4. Iatrogenic
This form of CJD arises from contamination with tissue from an infected person, usually as the result of a medical procedure. Medical procedures that are associated with the spread of this form of CJD include blood transfusion from the infected person, use of human-derived pituitary growth hormones, gonadotropin hormone therapy, corneal and/or meningeal transplants.
Causes
1. Sporadic Creutzfeldt-Jakob disease has no known cause.
2. Most scientists believe the disease begins when prion protein somewhere in the brain spontaneously misfolds, triggering a "domino effect" that misfolds prion protein throughout the brain. Genetic variation in the prion protein gene may affect risk of this spontaneous misfolding.
3. Familial CJD is caused by variations in the prion protein gene that guarantee an individual will develop CJD. Researchers have identified more than 50 prion protein mutations in those with inherited CJD. Genetic testing can determine whether family members at risk have inherited a CJD-causing mutation. Experts strongly recommend professional genetic counseling both before and after genetic testing for hereditary CJD.
%2C_HMI.jpg)
Sign & Symptoms
1. Rapidly progressive Dementia
2. Leading to Memory loss
3. Personality changes
4. Hallucinations
5. Depression
6. Rapidly worsening confusion, disorientation, and problems with thinking, planning and judgment
7. Difficulty walking
8. Muscle stiffness, twitches and involuntary jerky movements
Diagnosis
The following tests may help determine whether an individual has CJD :
1. Electroencephalogram (EEG) measures the brain's patterns of electrical activity similar to the way an electrocardiogram (ECG) measures the heart's electrical activity.
2. Brain magnetic resonance imaging (MRI) can detect certain brain changes consistent with CJD.
3. Lumbar puncture (spinal tap) tests spinal fluid for the presence of certain proteins.
Treatment
There is no treatment that can slow or stop the underlying brain cell destruction caused by Creutzfeldt-Jakob disease and other prion diseases. Various drugs have been tested but have not shown any benefit. Clinical studies of potential CJD treatments are complicated by the rarity of the disease and its rapid progression.
Current therapies focus on treating symptoms and on supporting individuals and families coping with CJD. Doctors may prescribe painkillers such as opiates to treat pain if it occurs. Muscle stiffness and twitching may be treated with muscle-relaxing medications or antiseizure drugs. In the later stages of the disease, individuals with CJD become completely dependent on others for their daily needs and comfort.
CJD progresses rapidly. Those affected lose their ability to move or speak and require full-time care to meet their daily needs. An estimated 90 percent of those diagnosed with sporadic CJD die within one year. Those affected by familial CJD tend to develop the disorder at an earlier age and survive somewhat longer than those with the sporadic form, as do those diagnosed with vCJD. Scientists have not yet learned the reason for these differences in survival.
Classification
Types of CJD include :
1. variant (vCJD)
This is thought to be caused by the consumption of food contaminated with prions, which also cause BSE.
2. sporadic (sCJD)
This accounts for 85% of cases of CJD.
3. familial (fCJD)
This accounts for the majority of the other 15% cases of CJD.
4. Iatrogenic
This form of CJD arises from contamination with tissue from an infected person, usually as the result of a medical procedure. Medical procedures that are associated with the spread of this form of CJD include blood transfusion from the infected person, use of human-derived pituitary growth hormones, gonadotropin hormone therapy, corneal and/or meningeal transplants.
Causes
1. Sporadic Creutzfeldt-Jakob disease has no known cause.
2. Most scientists believe the disease begins when prion protein somewhere in the brain spontaneously misfolds, triggering a "domino effect" that misfolds prion protein throughout the brain. Genetic variation in the prion protein gene may affect risk of this spontaneous misfolding.
3. Familial CJD is caused by variations in the prion protein gene that guarantee an individual will develop CJD. Researchers have identified more than 50 prion protein mutations in those with inherited CJD. Genetic testing can determine whether family members at risk have inherited a CJD-causing mutation. Experts strongly recommend professional genetic counseling both before and after genetic testing for hereditary CJD.
Sign & Symptoms
1. Rapidly progressive Dementia
2. Leading to Memory loss
3. Personality changes
4. Hallucinations
5. Depression
6. Rapidly worsening confusion, disorientation, and problems with thinking, planning and judgment
7. Difficulty walking
8. Muscle stiffness, twitches and involuntary jerky movements
Diagnosis
The following tests may help determine whether an individual has CJD :
1. Electroencephalogram (EEG) measures the brain's patterns of electrical activity similar to the way an electrocardiogram (ECG) measures the heart's electrical activity.
2. Brain magnetic resonance imaging (MRI) can detect certain brain changes consistent with CJD.
3. Lumbar puncture (spinal tap) tests spinal fluid for the presence of certain proteins.
Treatment
There is no treatment that can slow or stop the underlying brain cell destruction caused by Creutzfeldt-Jakob disease and other prion diseases. Various drugs have been tested but have not shown any benefit. Clinical studies of potential CJD treatments are complicated by the rarity of the disease and its rapid progression.
Current therapies focus on treating symptoms and on supporting individuals and families coping with CJD. Doctors may prescribe painkillers such as opiates to treat pain if it occurs. Muscle stiffness and twitching may be treated with muscle-relaxing medications or antiseizure drugs. In the later stages of the disease, individuals with CJD become completely dependent on others for their daily needs and comfort.
CJD progresses rapidly. Those affected lose their ability to move or speak and require full-time care to meet their daily needs. An estimated 90 percent of those diagnosed with sporadic CJD die within one year. Those affected by familial CJD tend to develop the disorder at an earlier age and survive somewhat longer than those with the sporadic form, as do those diagnosed with vCJD. Scientists have not yet learned the reason for these differences in survival.
Post a Comment