Creutzfeldt-Jakob disease (CJD) is an extremely rare condition in which brain tissue is progressively destroyed by an unusual infectious agent. The disorder leads to a general decline in all areas of mental, and physical ability and ultimately to death. CJD affects about one person in a million each year worldwide.

What is the cause?

CJD is caused by an infectious agent known as a prion, which replicates in the brain and causes brain damage. One type of CJD, accounting for 15 in 100 cases, has been found to run in families.

Most people who develop CJD are over the age of 50. Usually, the source of the infection is unknown, but in about 1 in 20 people it can be traced to earlier treatment with products derived from human tissue. Before the use of artificial growth hormones to treat growth disorders, human growth hormone injections were one source of infection.

In the mid 1990s, a new, rare variant of CJD that affects people in their teens or 20s was discovered in the UK. By the year 2000, about 50 cases had been reported. This variant is believed to be linked with eating contaminated meat from cattle with a disease called bovine spongiform encephalopathy (BSE).

What are the symptoms?

It is thought that is present for 2-15 years before symptoms begin to develop gradually. They may include:

- Depression.
- Poor memory.
- Unsteadiness and poor coordination.

Other symptoms develop as the condition progresses and include:

- Sudden muscle contractions.
- Seizures.
- Weakness or paralysis on one side of the body.
- Progressive dementia.
- Impaired vision.

In the later stages CJD, a person may be unable to move and talk. Those who are confined to bed are prone to serious lung infections.

What might be done?

CJD is usually diagnosed from a person’s symptoms because no specific test is yet available. Anyone suspected of having CJD will have extensive tests, such as MRI, to exclude other treatable causes, and EEG to look for characteristic changes in electrical activity in the brain. A brain biopsy, in which a small piece of tissue is surgically removed for examination, may be performed. There is no cure for CJD, but drugs can relieve some symptoms. For example, symptoms of depression may be treated with antidepressant drugs, and muscle contractions may be controlled by muscle relaxant drugs. However, the disorder is usually fatal within 3 years.

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Parkinson’s disease results from degeneration of cells in a part of the brain called the basal ganglia, which controls the smoothness of muscle movements. Normally, these cells produce a neurotransmitter (a chemical that transmits nerve impulses) called dopamine, which acts with acetylcholine, an other neuro-transmitter, to fine-tune muscle control. In Parkinson’s disease, the level of dopamine relative to acetylcholine is reduced, adversely affecting muscle control.

About 1 in 200 people in the UJ has Parkinson’s disease. The disorder tends to occur after the age of 60 and is more common in men.

Parkinsonism is the term used for symptoms of Parkinson’s disease when they are due to an underlying disorder or certain drugs. Repeated head injuries may cause Parkinsonism, as may some antipsychotic drugs used to treat severe psychiatric illness.

What are the symptoms?

The main symptoms of Parkinson’s disease develop gradually over months or even years. Parkinsonism may have a gradual or sudden onset depending on the cause. Symptoms include:

- Tremor of on hand, arm or leg, usually when resting, that later occurs on both sides.
- Muscle stiffness, making it difficult to start moving.
- Slowness of movement.
- Shuffling walk with loss of arm swing.
- Expressionless or mask-like face.
- Stooped posture.

As the disease progresses, stiffness, immobility, and constant trembling of the hands may make some daily tasks difficult to perform. Speech may become slow and hesitant, and swallowing may be difficult. Many people with the disorder develop depression. About 3 in 10 people with the disease eventually develop dementia.

How is it diagnosed?

Since Parkinson’s disease begins gradually, it is often not possible to diagnose the condition immediately. Your doctor will examine you and may arrange tests such as CT scanning or MRI to exclude other possible causes. If a specific underlying disorder is found to be causing your symptoms, you will be diagnosed as having Parkinsonism rather than Parkinson’s disease.

How might the doctor treat it?

There is no specific cure for Parkinson’s disease, but drugs physical treatments, and more rarely, surgery can relieve symptoms. If you have Parkinsonism due to medications, your doctor may change your drugs. Symptoms the usually disappear within 8 weeks. If the symptoms persist, you may need to be treated with anti-parkinsonism drugs.

Drug treatment: in the early stages of Parkinson’s disease when symptoms are mild, treatment may not be necessary because drugs can not change the progression of the disease. Later on, drugs are used to relieve symptoms and reduce disability by correcting chemical imbalances in the brain, either by boosting dopamine levels or by blocking some the effects of acetylcholine or a combination of both. The choice and dosage of drugs is tailored to individual’s particular problems and adjusted to reduce side effects.

Often, an anti-cholinergic drug such as trihexyphenidyl (benzhexol) is given initially to reduce shaking and stiffness. Anti-cholinergic drugs can be effective for several years, but they may cause dry mouth, burred vision and difficulty in passing urine.

The main treatment for Parkinson’s disease is with levodopa, which boosts the level of dopamine within the brain. Levodopa controls major symptoms such as mobility problems but may initially cause side effects, such as nausea and vomiting. For this reason, the drug is increased gradually and is usually prescribed with other drugs, such as carbidopa or benserazide, which reduce the amount of levodopa that is needed. However, some people develop involuntary jerky or writhing movements as a side effect of this treatment. Levodopa is usually effective for 2-5 years, but long-term use may be associated with abrupt changes in symptoms known as the “one-off” effect of levodopa. The affected person has periods of normal mobility punctuated by unpredictable episodes of weakness and difficulty in moving.

When levodopa is no longer effective, seligiline, a drugs that slightly increases dopamine activity in the brain, may be tried, and later, other drugs, including dopamine agonists such s bromocriptine, may be used. Such drugs may cause confusion, hallucinations, and occasionally, aggressive behaviour. Although there is no wholly successful therapy for symptoms of this disease, new drugs are always being developed.

Physical treatment: the doctor may arrange for physiotherapy to help with mobility problems or speech therapy for speech and swallowing problems. If you are finding it difficult to cope at home, an occupational therapist may suggest changes, such as installing hand-rails to make it easier for you to move around.

Surgical treatment: younger people who are otherwise in good health may have surgery if the tremor cannot be controlled by drugs. Surgery involves destroying a part of the brain tissue responsible for the tremor. Therapies still being assessed include replacement of damaged brain cells with transplanted tissue and deep brain stimulation with electrical impulses to reduce tremor. Deep brain stimulation, in particular, holds promise as a future treatment.

What can I do?

It is important to pay attention to your general health. Taking a walk each day and doing simple stretching exercises will help you to maintain strength and mobility. You should also rest during they day to avoid getting tired. Emotional and practical help from family, friends, and support groups is important.

What is the prognosis?

The course of the Parkinson’s disease is variable, but drugs can be effective in treating the symptoms and improving the quality of life. People can lead active lives for many years after being diagnosed. However, most people with the disorder need daily help eventually, and their symptoms may be increasingly hard to control with drugs.

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Huntington’s disease is an inherited disorder that causes degeneration of a particular part of the brain. Also known as Huntington’s chorea, the condition causes jerky, involuntary movements, clumsiness, and progressive dementia. Huntington’s disease is rare, affecting only about 6,000 people in the UK. The symptoms commonly develop between the ages of 30 and 50.

Huntington’s disease is caused by an abnormal dominant gene. To develop the disease, an affected person has to inherit the abnormal gene from only one parent. People who have the gene have a 1 in 2 chance of passing it on to each of their children. Since the symptoms do not develop until later in life, an abnormal gene may be passed on to children before the affected parent becomes aware that he or she has Huntington’s disease. However, a genetic test can be carried out at any age to find out if an individual has inherited the abnormal gene from a parent.

What are the symptoms?

Symptoms develop gradually over a period of months or years. Initially, they may include the following:

- Jerks and spasms of the face, arms, and trunk.
- Clumsiness.
- Mood swings, including outbursts of aggressive, antisocial behaviour.
- Poor memory, especially for events that have occurred recently.

As the disease progresses, further symptoms of dementia, such as losing the ability to think rationally, may develop. There may be difficulty in speaking and swallowing, and problems with urinary incontinence. Anxiety and depression may also occur.

What might be done?

Unless the condition has already been diagnosed within the family, it may not be recognized during its early stages. Usually, a member of the affected person’s family first realizes that there is a problem. The affected person may be suspicious of others and refuse help. Diagnosis is usually made from the symptoms and by CT scanning or MRI of the brain, which may show distinct patterns of abnormality.

There is no cure for Huntington’s disease, bur drugs may relive certain symptoms. For example, antipsychotic drugs help to control jerks and spasms. Speech therapy and occupational therapy are used to help an affected person to lead as normal a life as possible. However, care in a nursing home may be necessary if the person is unable to live at home or when carers need a period of respite. Members of the family may decide to have a blood test to determine whether they have the abnormal gene themselves. These tests are performed after genetic counseling because the results are likely to have a bearing on whether or not they decide to have children.

Huntington’s disease has a slow progression. A person may live for 15-20 years after the onset of symptoms.

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Wernicke-Korsakoff syndrome is a rare disorder of the brain, causing dementia, abnormal eye movements, and an abnormal gait. The condition develops rapidly and is due to a severe deficiency of vitamin B1. It is a medical emergency. If untreated, coma and death may occur. About 2 in 10 individuals with the disorder die within 5 days. Vitamin B1 deficiency is usually caused by many years of severe alcohol abuse, but in may be due to extreme mal-nutrion or starvation. This order is most common in people over the age of 45 and affects more men than women.

What are the symptoms?

Symptoms may start gradually or suddenly, sometimes affect heavy drinking, and are easily mistaken for drunkenness. They include the following:

- Abnormal movements of the eyes, which often result in double vision.
- Unsteadiness when walking.
- Confusion and restlessness.

Unless the individual is given urgent treatment, he or she will develop severe memory loss, become drowsy, go into a coma, and eventually die.

What might be done?

A person with Wernicke-Korsakoff syndrome needs immediate admission to hospital for intravenous treatment with high-dose vitamin B1. After treatment, many of the symptoms may be reserved within days, but memory loss may persist. If untreated, the disorder is fatal.

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