Creutzfeldt-Jakob Disease – Diagnosis and Medications.

Creutzfeldt-Jakob Disease – Definition

Creutzfeldt-Jakob disease (CJD) is a degenerative fatal brain disorder, which gradually destroys brain cells, and it causes tiny holes in the brain. CJD is caused by a protein called a prion. A prion causes normal proteins to fold abnormally. This affects other protein’s ability to function. People with CJD will have ataxia, or difficult in controlling body movements, abnormal gait, speech, and dementia.

Types

There are three major categories of CJD:

1. Sporadic CJD – It is the most common type disease appears even though the person has no known risk factors for the disease.
2. Hereditary CJD – In this the person has a family history of the disease and/or tests positive for a genetic mutation associated with CJD.
3. Acquired CJD – This disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures such as surgical treatments.

History

CJD captured public attention in the1990’s when some people in the United Kingdom developed a form of the disease called variant CJD (vCJD), after eating meat from diseased cattle and beef. Although serious CJD is rare, vCJD is the least common form. Worldwide, there is an estimated one case of CJD diagnosed per million people each year but most often in older adults.

The brain affected by CJD and Healthy brain

Epidemiology of Creutzfeldt-Jakob disease

Before the identification of vCJD, Creutzfeldt-Jakob disease (CJD), the most common of the known human TSEs, was thought to exist in only three forms:

• Sporadic CJD, which occurs throughout the world at the rate of about one per million people, and accounts for about 85% of CJD cases;
• Familial CJD, which is associated with a gene mutation and makes up 5–15% of CJD cases; and
• Iatrogenic CJD, which results from accidental transmission via contaminated surgical equipment or as a result of corneal or meningeal (dura mater) transplants or the administration of human-derived pituitary growth hormones; this accounts for less than 5% of CJD cases.

Risk factors

• People who consume contaminated beef may be at increased risk for developing an acquired form of Creutzfeldt-Jakob disease called variant CJD (vCJD)
• Age and genetics
• Exposure to contaminated tissue

Causes

• CJD happens when a prion protein, an abnormal kind of amyloid protein, causes abnormalities in other proteins
• The buildup and malformation of prions on the brain cells ultimately lead to brain damage and death. It may be sporadic, inherited, or acquired

Symptoms of Creutzfeldt-Jakob Disease

• Depression
• Agitation, apathy and mood swings
• Rapidly worsening confusion, disorientation, and problems with memory, thinking, planning and judgment
• Difficulty walking
• Muscle stiffness, twitches and involuntary jerky movements

Diagnosis and Test

• Physical examination will look for muscle spasms and check the patient’s reflexes
• Vision or eye test may detect partial blindness
• Electroencephalogram (EEG) can reveal abnormal electrical impulses
• CT scan or MRI can rule out stroke as a cause of symptoms
• Lumbar puncture or spinal tap, can test spinal fluid to rule out other causes of dementia
• There is no cure for CJD, and no medications can help to control it or slow disease progression
• Treatment aims to relieve symptoms and make the patient as comfortable as possible

Treatment and Medication

• There is no treatment that can cure or control CJD. Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, so far none of these treatments has shown any consistent benefit in humans
• Current treatment for CJD is aimed at alleviating symptoms and making the individual as comfortable as possible
• Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus

Prevention of Creutzfeldt-Jakob Disease

• Preventive measures include sterilization of all medical equipment to kill any organisms that may cause the disease, and not accepting cornea donations from people with a history of diagnosed or possible CJD
• Wear surgical gloves when handling a CJD patient’s tissues and fluids or dressing the patient’s wounds
• Avoid cutting or sticking with instruments contaminated by the CJD patient’s blood or other tissues
• Research is underway into the role of prions in CJD, to find out how the disease affects the brain, and to find an effective treatment