What is Creutzfeldt-Jakob disease?
Diagnosed independently by Drs. Creutzfeldt and Jakob in the early 1920s, the disease that bears their names is a rare, degenerative brain disorder that affects approximately one person per million per year worldwide. The U.S. sees about 350 new cases each year. However, because Creutzfeldt-Jakob disease (CJD) is very difficult to diagnose, this number may actually be higher. CJD affects men and women of all cultural backgrounds, with symptoms typically appearing around age 60.
Creutzfeldt-Jakob Disease is known as a prion disease, which means that healthy brain tissue deteriorates into an abnormal protein that the body cannot break down. CJD is a type of transmissible spongiform encephalopathy (TSE), a classification that includes both human and animal diseases. “Spongiform” refers to the characteristic appearance of an infected brain, which becomes filled with holes until it looks like a sponge under a microscope.
Prior to the “mad cow disease” epidemic of the 1990s, few people had heard of Creutzfeldt-Jakob Disease. However, once a growing number of young people in the United Kingdom started developing symptoms that appeared congruent with CJD, the world became alarmed. This new form of the illness, named variant Creutzfeldt-Jakob disease or vCJD, results only from exposure to beef that is contaminated with bovine spongiform encephalopathy (BSE), the scientific term for mad cow disease.
Although CJD is a rare disease, positive diagnoses do happen. There’s no cure, so finding out that you or loved one has it can be a terrifying experience. You might feel overwhelmed by despair or experience a state of numbness or denial. These types of reactions are normal when a situation feels hopeless. However, learning more about CJD, its symptoms, and the self-help strategies available can help to empower you during this difficult time.
Types of Creutzfeldt-Jakob disease
By understanding the different types of CJD, you can identify symptoms and help predict the course of the disease. There are four types of Creutzfeldt-Jakob disease: sporadic (or classical), inherited (or familial), iatrogenic (or acquired) and variant.
|Four Types of Creutzfeldt-Jakob Disease
Sporadic or classical (sCJD)
The most common form of Creutzfeldt-Jakob disease, sporadic CJD occurs for an as-yet unknown reason, and accounts for about 85% of the cases. The illness is shorter than in other forms, and typically appears in adults between the ages of 60 and 65.
Inherited or familial
Caused by a genetic mutation, inherited CJD accounts for fewer than 15% of all Creutzfeldt-Jakob cases. The age of onset can be younger than for sporadic CJD, and the course of illness is generally longer.
Iatrogenic means the disease is acquired through a medical procedure such as contamination from brain surgery, or a corneal transplant, or grafts of dura mater, the membrane that covers the brain and spinal cord. These account for a tiny percentage of cases.
Acquired from eating beef tainted with bovine spongiform encephalopathy (BSE), variant Creutzfeldt-Jakob disease is more commonly known as mad cow disease. So far, most cases have occurred in the UK. The age of onset is typically younger and the duration of the disease longer than in sporadic CJD.
For a long time, researchers believed a “slow virus” was responsible for causing transmissible spongiform encephalopathies (TSEs), of which Creutzfeldt-Jakob disease is one type. In animals, a TSE known as scrapie has affected sheep and goats since the 1700s. In fact, many experts believe British cattle developed mad cow disease after being fed the remains of scrapie-infected sheep. But the cause of TSEs themselves remained a mystery until the 1980s, when a researcher at the University of California San Francisco suggested the cause was actually an infectious protein, which he named a prion.
Prions (short for proteinaceous infectious particles) are chains of amino acids (the building blocks of proteins) that occur naturally in both human and animal brains, and are normally harmless. However, when the prion folds incorrectly into a shape that can’t be used by the body, the accumulating protein deposit begins to cause serious problems. Instead of performing a useful function, the errant prions start to create a slow systemic decline. As diseased cells die, the released prions infect more cells, until the brain eventually resembles Swiss cheese.
This knowledge of brain changes associated with CJD doesn’t explain how the disease begins. We do know that a small number of cases are caused by ingesting infected meat, or medical errors or heredity; but the vast majority of cases have not been traced to a particular cause. Researchers do believe that CJD is not contagious in the usual sense: one cannot catch it as one would a cold or the flu.
Part of the reason CJD is hard to diagnose is that in the early stages, symptoms often appear similar to those of other dementias, such as Alzheimer’s disease, Huntington’s disease, Pick’s disease, or Parkinson’s.
Symptoms of CJD can include:
- Slurred speech
- Problems with muscle coordination and balance
- Vision problems
- Numbness in body parts
- Severe depression
- Social withdrawal
- Impaired memory, thinking, and judgment
Symptoms and their progression can vary depending on the type of CJD a patient has. For example, in sporadic cases, the disease can run its course in five to six months. In cases of familial CJD, symptoms tend to take years, rather than months, to progress. Incubation period can vary by type as well, with vCJD potentially having a decades-long incubation.
Symptoms of vCJD
The initial symptoms of vCJD are often more psychiatric in nature, often leading to incorrect medical referrals. After several weeks or months, more obvious neurological symptoms usually appear.
As the disease rapidly progresses, patients with all forms of CJD generally experience:
- Visual deterioration and eventual blindness
- Involuntary muscle contractions
- Muscle paralysis
- Loss of speech
- Difficulty swallowing
Treatment and self-help tips
Despite ongoing clinical trials, there is not yet a cure for Creutzfeldt-Jakob disease. However, you can find treatments for relieving symptoms. For example, antidepressants may help manage the psychological symptoms, and other medication may be used to treat tremors.
Creutzfeldt-Jakob disease is invariably fatal, sometimes within a year of the onset of symptoms. So, a positive diagnosis can be devastating. Waves of intense emotions like fear, despair, or numbness may make it hard for you to function or even think straight.
Be patient with yourself and your emotions. Know that there’s no “right” way to feel or respond to the news. As you process the situation, allow yourself to feel rather than fight or suppress your emotion. In time, the initial distress will ease.
Manage depression. Severe depression can be an early psychological symptom of CJD. The mood disorder can contribute to insomnia, accelerate cognitive decline, and worsen your overall physical and mental well-being. Therefore, it’s important to treat and manage symptoms of depression.
Rely on your social support network. Negative self-talk can trick you into thinking you’re a burden on friends and family members. Try to push past those feelings and reach out to the people who love you and are willing to listen. Spending time with them can help you deal with difficult emotions or add some joy and positivity to your days.
Join a support group. Look for in-person or online support groups for people in similar situations. You can get coping tips from your peers and share some wisdom of your own.
Make a plan. Making end-of-like preparations can involve hard decisions and tough conversations. However, those preparations will ensure your wishes are carried out and the person you designate will make the right health care decisions for you if you’re unable.
Adapt your surroundings. If you want to be treated for the disease at home, adjustments to your living space will likely be necessary. For example, you may want to:
- Install railing on stairways and remove trip hazards. Safety precautions can keep you safe even if you struggle with vision problems or impaired balance.
- Stick to a consistent routine and leave small items, such as your phone, in easy-to-remember areas.
- Use alarms, calendars, and other memory tools to stay on track with your schedule despite memory impairment.
Get enough sleep. You might struggle with insomnia that’s directly caused by CJD, as well as difficulty sleeping due to stress or depression. Despite this, it’s important to do what you can to get adequate sleep. Sleep will help you think clearly and manage stress. Do your best to follow a consistent sleep routine and keep your bedroom dark, cool, and quiet.
Be mindful of your diet. Eat a balanced diet that energizes you. Steer clear of junk foods and sugary snacks that ultimately leave you feeling fatigued. Try to limit your use of nicotine, alcohol, and other substances that can worsen your mood and sleep quality.
Be as active as possible. As the disease progresses, you might find it harder to exercise. But even with limited mobility and coordination there are ways to stay active. Even short bouts of physical activity can help relieve stress and improve your mood.
Helping a loved one with Creutzfeldt-Jakob disease
If a friend or family member has received a CJD diagnosis, you might decide to take on the role of caretaker. If that’s the case, you’ll be providing your loved one with physical and emotional support through this difficult time. However, in addition to helping them adapt to the symptoms of CJD, you’ll need to take care of yourself.
Take time to address your own grief. The grieving process can take you through waves of intense emotions, including anger, shock, and despair. And caregiving can add additional stress to the situation. Take time to feel your emotions and mourn your losses. Keeping a daily journal might help you process your feelings.
Find ways to relax. Join your loved one in practicing relaxation techniques, such as meditation or yoga. Find time to enjoy your favorite hobbies and pastimes as well. When possible, allow your loved one to join you. For example, you could spend a peaceful day fishing together.
Stick to a healthy routine. Getting enough sleep and physical activity will help you cope with the stress that comes with caregiving. Also remember to eat regular, nutritional meals.
Look for help. Don’t feel the need to do everything by yourself. Join local or online support groups when you want to connect with people in similar situations. Look for caregiving help such as respite care when you feel overwhelmed or need a break.
See the value in your actions. Some days, your caregiving efforts may feel futile, especially as the disease progresses. Reassure yourself that your actions are meaningful and the experience will give you a new perspective on life.
Know that the person you’re caring for is also likely struggling to see the meaning in the situation. Help them find a sense of purpose. For example, they may want to participate in clinical studies that contribute to the medical community’s pursuit of a cure.
The mad cow disease crisis in the UK has generated a great deal of research focus on Creutzfeldt-Jakob Disease and prions. Scientists use rodent models of CJD and brain tissue from autopsies to help advance their inquiries. Among the many areas being studied are:
- The unique nature of prions, which are virtually indestructible.
- Factors that influence susceptibility to the disease and that affect when in life symptoms will manifest.
- The use of antibodies for the prevention and treatment of prion diseases.
- The possible development of a vaccine.
Recent scientific advances have mostly come in the form of better diagnostic techniques. However, with the help of willing recruits, researchers continue conducting clinical trials to find effective treatment options.
Helplines and support
In the U.S.
Call the CJD Foundation helpline at 1-800-659-1991.
Call the National CJD helpline at 0800 774 7317.
Call the CJD Support Group Network hotline at 1800 052 466.
Visit The Canadian CJD Association for support.
Visit the CJDISA International Support Alliance for resources in your country.
Last updated or reviewed on February 24, 2023