Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease (CJD) is a rare degenerative brain disorder characterized by dementia-like symptoms. CJD symptoms, similar to those in Alzheimer’s disease, progress rapidly causing dementia and eventually death.

CJD was first noticed in the 1990's when some people in the United Kingdom developed variant CJD (vCJD) after eating contaminated beef. But, "classic" Creutzfeldt-Jakob disease isn't caused by contaminated beef.

Occurrence of vCJD is also rare. It affects about one in every million people every year worldwide. It is most common in older adults.

Signs and symptoms of Creutzfeldt-Jakob disease are:

• Personality changes
• Anxiety
• Depression
• Loss of memory
• Impaired thinking
• Visual disturbances
• Inability to sleep (Insomnia)
• Problem speaking
• Difficulty swallowing
• Involuntary movements

Creutzfeldt-Jakob disease is characterized by progressive worsening of mental function, typically within a few months.

Mental symptoms get worse with the progression of disease and people eventually become comatose. Death ensues within a year of suffering.

Death is often caused by heart failure, respiratory failure, pneumonia or other infections. People with rarer form vCJD may initially experience psychiatric symptoms while dementia (characterized by memory loss, personality changes and impaired reasoning) occurs later.

Younger people are more susceptible to this type. Compared to classic CJD, this type has longer duration, about 12 to 14 months.

Creutzfeldt-Jakob disease and other transmissible spongiform encephalopathies (TSEs) are caused by abnormal protein called a prion. Normal prion proteins cause no harm. But disease-causing prion is infectious and can affect normal physiological processes.

Creutzfeldt-Jakob disease and its type fall into a category of diseases called transmissible spongiform encephalopathies (TSEs) which affect humans and animals. Affected brain tissues when viewed under microscope look like holes in sponges, hence the name spongiform.

How CJD is transmitted?

Note that activities such as coughing or sneezing, touching or sexual do not transmit CJD. CJD can result:

• Sporadically: Most cases of CJD occur without a cause. Most of the people who have CJD have spontaneous CJD or sporadic CJD.
• By inheritance: Nearly 5 to 10 percent in the United States have familial CJD caused by inherited genetic abnormality.
• By contamination: People may develop CJD after getting contaminated with infected brain tissue during medical procedure, such as a cornea or skin transplant. Standard sterilization methods cannot damage abnormal prions, so some people may develop CJD if brain surgery is performed with contaminated instrument. CJD that results from medical procedures is also known as iatrogenic CJD. You may also develop variant CJD you consume beef infected with mad cow disease (bovine spongiform encephalopathy or BSE).

There are only two ways to diagnose Creutzfeldt-Jakob disease, which are:

1. Brain biopsy
2. Autopsy (examination of brain after death)

However, with proper evaluation of your medical and personal history and a neurological exam, your doctor may be able to establish the diagnosis. Neurological exam assesses typical symptoms such as muscle twitching and spasms, abnormal reflexes, vision and coordination problems.

If you have CJD you will be recommended to visit a neurologist (a specialist in nervous system disorders).

How to prepare yourself for the visit?

Getting prepared for the visit can optimize the therapy and help make the visit more fruitful. 

List out all the symptoms.

Write down your key medical information.

Write down the names of all your medications, vitamins or supplements.

Ask a friend or a family member to accompany you during the visit.

Make a list of the questions to ask your doctor. Some typical questions can be:

• What is the most probable cause of my symptoms?
• What tests are I needed?
• Can you suggest me the best course of action?
• Do I need to follow any restrictions?
• Should I see a specialist?

What your doctor wants to know?

A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor. Your doctor might ask you typical questions like:

• When did your symptoms start appearing and how severe are they?
• Do your symptoms occur continuously or they come and go?
• Does anything improve or aggravate your symptoms?
• Do you have a family history of Creutzfeldt-Jakob disease?
• Did you live or travel outside the United States for a long time in the past?

Your doctor can use following tests for diagnosis:

• Electroencephalogram (EEG): EEG records your brain's electrical activity. People with CJD and vCJD may have abnormal electrical pattern.
• MRI: MRI uses radio waves and a magnetic field to create detailed images of your head. Abnormalities may be seen in the MRI scan if you suffer from CJD.
• Spinal fluid tests: Lumbar puncture or spinal tap is a procedure in which your doctor inserts needles into lower part of spinal cord to obtain a small amount of cerebrospinal fluid, a body fluid that surrounds your brain and spinal cord. Detection of prion in cerebral spinal fluid indicates CJD or vCJD.

Usually, treatment is aimed to provide relief from symptoms as well as improve quality of life in people with Creutzfeldt-Jakob disease.

Unfortunately, there is no cure for Creutzfeldt-Jakob disease and progression of disease cannot be controlled. Several drugs including steroids, antibiotics and antiviral agents have proved to be ineffective. 

Sporadic Creutzfeldt-Jakob disease cannot be prevented. If anyone in your family has neurological disease, talk to a genetics counselor to assess your risks of CJD.

Preventing iatrogenic CJ. 

• Hospitals and other medical institutions have stringent policies to prevent iatrogenic CJD which include:
• Using only synthetic human growth hormone and avoiding growth hormones derived from human pituitary glands.
• Destruction of surgical instruments if used for people who have or are suspected to have CJD.
• Disposable lumbar puncture kits
• People with risks of CJD or vCJD aren’t allowed to donate blood. People with the risks are those who:

        o have family history of CJD
        o have undergone brain surgery involving dura mater
        o were given growth hormone derived from human pituitary
        o lived in in the United Kingdom from 1980 to 1996 for at least three months
        o lived in France since 1980 for more than 5 years
        o were transfused with blood in the U.K. since 1980
        o use bovine insulin since 1980

Preventing vCJD

The risk of acquiring vCJD in the United States is rare. Only three people in the U.S. have suffered from CJD according to the Centers for Disease Control and Prevention. It is believed that they acquired CJD abroad, two in the United Kingdom and one in Saudi Arabia. In the United Kingdom fewer than 200 cases have been reported which was mostly between 1999 and 2000. But the occurrence has declined now.

Regulating potential sources of vCJD

Most countries have adopted strict measures to prevent BSE-infected tissue from entering the food supply. The controls include:

• Strict rules on import of cattle from BSE prone countries
• Limitations on fodder
• Standard procedures for handling sick animals
• New technologies that monitor and control cattle health
• Restrictions on parts of cattle that can be processed for food

There are several risks and complications associated with Creutzfeldt-Jakob disease.

Risks include:

• Age: Sporadic CJD usually develops at the age of 60. Familial CJD develops a bit earlier whereas vCJD affects younger people, usually people in late 20s.
• Genetics: Familial CJD develops due to genetic mutation that can pass from parents to the children, the chance of which is nearly 50 percent. Certain prion gene increase your risk of CJD after your exposure to contaminated tissue.
• Exposure to contaminated tissue: People have increased risk of iatrogenic CJD if they ever received human growth hormone from human pituitary glands or if they have undergone dura mater grafting.

If a country has been implementing public health measures, there may be no risk of vCJD. Creutzfeldt-Jakob disease prominently affects the brain and progresses rapidly.

People with CJD are unable to recognize friends and family and have deteriorated mental functions. With the progression of disease, they lapse into coma and ultimately die.