I have a neighbor who has just been diagnosed with CDJ (Creutzfeldt-Jakob Disease). She may only have a few months left to her life! She was fine until October. She then developed dizziness after a medical procedure.  Having had many diagnostic tests her condition was determined just a few weeks ago.

What is this awful disease? Creutzfeldt-Jakob Disease (CJD) is a rare, degenerative, fatal brain disorder. It affects about one person in every one million per year worldwide. In the United States there are about 350 cases per year. It runs a rapid course. Typical onset of symptoms occurs around age 60, and about 70 percent of individuals die within one year. In the early stages of the disease, people may have failing memory, behavioral changes, lack of coordination, and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.

CJD is caused by a protein known as a prion. Infectious prions are proteins that don’t process correctly.  About 80% occur spontaneously, while about 7.5% of cases are inherited. There is no evidence that it can spread between people via normal contact or blood transfusions. Diagnosis involves ruling out other potential causes. An electroencephalogram, spinal tap, or magnetic resonance imaging may support the diagnosis.

There is no specific treatment for CJD. Opiods may be used to help with pain, while clonazepam or sodium valproate may help with involuntary movements.  CJD is different from bovine spongiform encephalopathy (mad cow disease) and variant Creutzfeldt-Jacob disease.

SIGNS AND SYMPTOMS

The first symptom of CJD is usually a rapidly progressive dementia, leading to memory loss, personality changes, and hallucinations. Myoclonus (jerky movements) typically occurs in 90% of cases, but may be absent at initial onset. Other frequently occurring features include anxiety, depression, paranoia, obsessive-compulsive symptoms and psychosis. This is accompanied by physical problems such as speech impairment, balance and coordination dysfunction (ataxia), changes in gait, and rigid posture. In most people with CJD, these symptoms are accompanied by involuntary movements. The duration of this disease varies greatly, but sporadic (non-inherited) CJD can be fatal within months or even weeks. Most victims die six months after initial symptoms appear, often of pneumonia due to impaired coughing reflexes. About 15% of people with CJD survive for two or more years.

The symptoms of CJD are caused by the progressive death of the brain’s nerve cells, which are associated with the build-up of abnormal prion proteins forming in the brain. When brain tissue from a person with CJD is examined under a microscope, many tiny holes can be seen where the nerve cells have died. Parts of the brain may resemble a sponge where the prion where infecting the areas of the brain.

TRANSMISSION

The defective protein can be transmitted by corneal (eye) grafts, dural grafts, or electrode implants and human growth hormone.

Dura mater is the dense, leathery membrane covering and protecting the brain and spinal cord. Dural graft substitutes are used when the opening in the dura is too large to be sutured together. There are many ways the dura can become damaged, including severe heard injury, tumor ingrowth (meningioma), or a surgeon’s need to open the dura for access to the brain or spinal cord during invasive surgical procedures.

It can be familial (fCJD); or it may appear without clear risk factors (sporatic form: sCJD). In the familial form, a mutation has occurred in the gene for PrP, PRNP, in that family.

It is thought that humans can contract the variant form of the disease by eating food from animals infected with bovine spongiform encephalopathy (BSE), the bovine form of TSE also known as mad cow disease. Not all types of CJD are related to BSE.

CLASSIFICATION

Sporadic (sCJD), the disease appears even though the person has no known risk factors for the disease. This is by far the most common type of CJD and accounts for at least 85 percent of cases.

Hereditary CJD, the person may have a family history of the disease and test positive for a genetic mutation associated with CJD. About 10 to 15 percent of cases of CJD in the United States are hereditary.

Acquired CJD, the rogue prion proteins have inadvertently been introduced into the individual as a result of accidental inoculation during medical procedures, or by exposure to food products contaminated with BSE.                                                                                                                                                                                                                                                       There is no evidence that CJD is contagious through casual contact with someone who has CJD. Since CJD was first described in 1920, fewer than one percent of cases have been acquired CJD.

CJD CANNOT BE TRANSMITTED THROUGH THE AIR

CDJ cannot be transmitted through the air or through touching or most other forms of casual contact. Spouses and other household members of people with sporadic CJD have no higher risk of contracting the disease than the general population. However, hospital workers who have exposure to brain tissue and spinal cord fluid from infected persons should be avoided to prevent transmission of the disease through these materials.

In some cases, CJD has spread to other people from grafts of dura mater (a tissue that covers the brain), transplanted corneas, implantation of inadequately sterilized electrodes in the brain, and injections of contaminated pituitary growth hormone derived from human pituitary glands taken from cadavers. Doctors call these cases that are linked to medical procedures iatrogenic cases. Since 1985, all human growth used in the United States has been synthesized by recombinant DNA procedures, which eliminates the risk of transmitting CJD by this route.

THE YOUNGEST VICTIM OF CJD

A case of juvenile onset CJD with the history of neurosurgical operation for arterio-venous malformation in his right occiptal lobe at age five. This was published in https://www.ncbi.nlm.nih.gov/pubmet May 2000. A 15-year old boy gradually developed gait disturbances and dementia. After three months, his condition was deteriorated and he became a state of akinetic mutism.  He was transferred to a near-by hospital. He showed myoclonus, periodic synchronous discharges on a electroencephalogram, and a high cerebrospinal fluid. He also revealed progressive brain atrophy by CT examination. He was diagnosed as having Creutzfeldt-Jacob disease.  So the possibility of a new variant form of CJD or iatrogenic CJD was considered, the former having been reported in England and the neighboring countries of Europe. The relationship between the CJD onset and the neurosurgical operation was suggested, but no evidence such as frozen dura matter graft was proven.

Reported in the 2007 paper in the Journal of Neurology, Neurosurgery, and Psychiatry recounts the case of Northern Irish teenager Jonathan Simms, whose symtoms of CJD began in September 2001, caused by eating infected beef. While intervention slowed the progression of the illness, it was not the cure. In 2011, a decade after contracting the disease. Mr. Simms died at the age of 27. he is the world’s longest known survivor of Creutzfeld-Jacob disease.

DEFINITIONS

Myoclonus – Spasmodic jerky contraction of groups of muscles.

Synchronous – Existing or occurring at the same time.