Planning Care for Someone with CJD

Creating a plan for caregiving, and regularly updating it, will help you determine what care you can and cannot provide. It will also help you come up with an answer when someone asks “How can I help?”.

Educate yourself

Learn what you can about CJD. Understanding what is happening to your loved one will help you cope better with the changes and communicate with the medical team providing care. When looking online, read these pages here or browse other well-known medical sites like the National Institutes of Health or the Creutzfeld-Jakob Disease Foundation.

Assess the situation

Medical Terms in Prion Disease

Browse this list of terms and definitions for words often used when discussing CJD.

  • 14-3-3 test: Detection of elevated levels of the 14-3-3 protein in the cerebrospinal fluid (CSF) has been reported to support a CJD diagnosis in the scientific literature, but many people with confirmed CJD have a negative or normal result while many others who do not have CJD, but have other neurological disease, have a positive result
  • akinetic mutism: A state where a person can no longer move or talk due to damage to the base of the brain, but the person is awake (not comatose) and their eyes are open and can follow what is going on around them

Genetics in Prion Disease

Approximately 10-15% of people with prion disease have a genetic form. Genetic CJD is a hereditary genetic disorder due to abnormal changes in the prion gene. More than 20 alterations in the DNA sequence in the gene have been reported. The characteristics of the disease correlate with the different mutation types.

Gene mutations

A gene mutation is a permanent change in the DNA sequence that makes up a gene. Gene mutations occur in two ways:

  1. Hereditary mutations are inherited from a parent, are present from birth, and are passed on to the next generation.
  2. Acquired mutations spontaneously develop during a person’s lifetime, may be present at birth if it occurred prenatally, and may be passed on to the next generation only if the mutation affects the egg or sperm.

Hereditary genetic disorders

Proteins and Prions

CJD belongs to a family of diseases called "prion disease" [pree-on] caused by abnormal "prions" – infectious, misshapen versions of a normal protein. Prions cause a number of diseases in a variety of mammals, including bovine spongiform encephalopathy (BSE or "mad cow disease") in cattle and scrapie in sheep.

What are proteins?

Proteins [pro-teens] are essential to life and are found in all living things. Proteins are contained in every part of your body: skin, muscles, hair, blood, body organs, eyes, fingernails, and bones. Next to water, protein is the most plentiful substance in your body.

Protein is primarily used to build, maintain and repair body tissues, but there are thousands of different proteins that carry out a variety of jobs in your body. The structure of a protein determines its function.

Tests for Prion Disease

Certain tests can help your doctor rule out or support a prion disease diagnosis.

When a diagnosis of Creutzfeldt-Jakob disease (CJD) is suspected, your doctor will likely order a number of tests. These can be helpful to either exclude other neurological diseases or support the CJD diagnosis.

Getting a CJD Evaluation at UCSF

The UCSF Memory and Aging Center has consulted on the evaluation of people diagnosed with rapidly progressive dementia from all over the world. If your doctor thinks you may have CJD or another rapidly progressive dementia, our specialists can review your medical records and see if a clinic visit is appropriate.

Evaluation for Research

Individuals interested in becoming a CJD, rapidly progressive dementia, or related disorder research participant need be screened for eligibility. To expedite this process, please follow the steps listed below.

  1. Complete the Potential Research Subject Intake Form. This form can be printed and mailed along with your medical records (see below).

Help Your Doctor Help You

Because Creutzfeldt-Jakob disease (CJD) is a rare disease, most doctors have little, if any, experience diagnosing or managing CJD. There are resources available for you to share with your doctor.

Communication Tips

If someone you know is experiencing any of the signs and symptoms of Creutzfeldt-Jakob disease (CJD), you may want to talk to their doctor about your concerns and observations.

A good relationship and clear communication with your doctor will result in the best care for your loved one. Here are some tips to help make talking to your doctor more effective:

Genetic Counseling and Testing for Prion Disease

If you are concerned about hereditary prion disease, you may want to meet a genetic counselor to help assess your risk of a genetic disorder and weigh the medical, social and ethical decisions surrounding genetic testing.

What is genetic counseling?

A genetic consultation is a health service that involves evaluation of an individual or family for one or more of the following:

  • Confirming, diagnosing or ruling out a genetic condition
  • Identifying medical management issues
  • Calculating and communicating genetic risks
  • Providing or arranging for support

Trained genetics professionals include doctors who specialize as medical geneticists, genetic counselors (certified healthcare workers) and genetic nurses.

Treatments for Creutzfeldt-Jakob Disease

While there is no proven treatment or cure for CJD yet, there are ways to help relieve symptoms and participate in research studies to help find treatments.

There is no proven effective treatments for prion diseases, including Creutzfeldt-Jakob disease (CJD), yet. Current therapy for prion disease is aimed at symptomatic treatment to make your loved one as comfortable as possible. We treat depression often with SSRIs, such as citalopram or escitalopram. If severe or debilitating, myoclonus often responds to low doses of clonazepam or anti-epileptic agents such as levetiracetam or valproic acid. If needed, agitation or bothersome recurrent visual hallucinations can be managed by small doses of atypical antipsychotics, such as quetiapine.

Is Creutzfeldt-Jakob Disease Contagious?

CJD is not contagious in the same way as a cold or flu. Normal social contact with someone with CJD should not put you at any greater risk of acquiring it.

Social contact

Current evidence doesn't suggest that you can catch CJD through normal social contact, the air, touching, drinking from the same cup, kissing or sexual contact. You don't need to wear gloves when touching a loved one with CJD or their clothes, sheets, towels, etc. As a general rule, you should always wash your hands thoroughly with soap and water after touching anyone with any illness. Spouses and other household members of sporadic CJD patients have no higher risk of contracting the disease than the general population.

Blood transfusions

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