What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob, (pronounced kroits-felt-yah-kawp), or CJD, causes a type of dementia that advances rapidly. It is a rare, degenerative and fatal brain disorder characterized by progressive dementia, blindness and involuntary movement.

It is one of what is called “prion” diseases, which occurs when the prion protein, which is found throughout the body, begins folding into an abnormal, three-dimensional shape. This shape change gradually triggers prion protein in the brain to fold into the same abnormal shape, and these shape patterns destroy brain cells, which leads to rapid decline in critical thinking and reasoning, confusion, behavioral changes and difficulty walking.

CJD affects about one person in every 1 million each year worldwide. The onset of symptoms typically occurs around age 60, and 90 percent of diagnosed cases die within a year.

Three major categories of CJD can be identified:

sporadic CJD: the disease appears with no known risk factors. It accounts for about 85 percent of all cases.

hereditary CJD: person has a family history or tests positive for the gene mutation associated with CJD. Only about 5 percent to 10 percent of CJD cases in the U.S. are hereditary.

acquired CJD: disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures. Less than 1 percent of acquired CJD have been noted since CJD was first described in 1920.

Initially, individuals with CJD experience problems with muscular coordination, impaired memory and judgment and vision, and personality changes. As the illness progresses, memory impairment becomes severe, and individuals develop involuntary muscle jerks and lose their sight. CJD causes more rapid deterioration of an individual’s abilities than Alzheimer’s disease or most other types of dementia.

Currently, there is no single diagnostic test for CJD. A physician usually rules out treatable forms of dementia, such as encephalitis or chronic meningitis.

A spinal tap, an electroencephalogram (EEG), computerized tomography (CT) and magnetic resonance imaging (MRI) are all forms of testing and evaluations to make the diagnosis of CJD, but the only way to confirm CJD is by brain biopsy or autopsy.

A variant of CJD is often called “mad cow” disease in which humans contract the disease from diseased tissue from cattle. This particular type usually occurs in younger people, and there is a delayed onset of dementia, and lack of muscle coordination and other characteristics of the disease.

There is no effective treatment for CJD. Treatment is aimed at easing symptoms and making the individual as comfortable as possible. Medication can help relieve pain if it occurs.

Questions about Alzheimer’s disease or a related dementia disorder? Contact Dana Territo, the Memory Whisperer, director of services at Alzheimer’s Services of the Capital Area, (225) 334-7494, advice@alzbr.org, or visit the organization at 3772 North Blvd., Baton Rouge.