Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease and Other Prion Diseases

Prion diseases are a group of rapidly progressive neurodegenerative conditions that are caused by an abnormal form of the prion protein. There are three causes of prion disease: sporadic (85 percent), genetic (10-15 percent), and acquired.

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common prion disease and is caused by a spontaneous change in the normal prion protein. sCJD typically presents in mid- to late life and the duration from onset until death is approximately six months. Genetic prion diseases are due to a mutation of the prion protein gene that is inherited from a parent. Usually there is a family history of prion disease, but not always.

There are several different genetic prion diseases that are separated based on different clinical presentations, neuropathological findings, or specific mutations. The genetic prion diseases include genetic CJD, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia.

The rarest cause of prion disease is through transmission, either through known medical procedures (i.e., iatrogenic CJD) or through ingestion of bovine spongiform encephalopathy (i.e., “mad cow disease”), which is referred to as variant CJD in humans.

Symptoms

Symptoms of prion disease vary widely depending on the individual as well as the type of prion disease. Common symptoms include:

  • Dementia
  • Balance and coordination problems
  • Muscle weakness
  • Muscle rigidity
  • Vision problems
  • Involuntary movements

Diagnosis

The only way to definitely diagnosis prion disease is by examining the brain tissue directly by either autopsy or brain biopsy. Brain biopsies are usually avoided unless there is a suspicion of a different illness. Other conditions that can mimic prion disease and potentially be treated must be ruled out. Using several diagnostic tests, doctors are able to arrive at a diagnosis of prion disease with a high degree of certainty. In addition to excluding other potential causes, an electroencephalogram (e.g., looking at brain waves), brain magnetic resonance imaging (MRI), and/or spinal fluid tests can often provide useful information to help with making a diagnosis. Genetic testing is possible to rule out genetic mutations that may cause the illness.

Treatment

Unfortunately, there is no current treatment or cure for prion disease. Management of patients with prion disease focuses on treating the symptoms of the disease to make the patient more comfortable. Hospice care and support services are highly encouraged.

In cases of suspected prion disease, patients and families are offered an autopsy through a CDC funded program to help achieve a definitive diagnosis with genetic testing included, as well as to assist with surveillance efforts.

Why University Hospitals?

There are several unique aspects of UH that make it a tertiary referral center for prion disease. UH staff, including physicians, nurses, social workers, and genetic counselors, are well acquainted with the diagnosis and management of prion diseases. The Center for Human Genetics at UH is also well versed in pre-symptomatic genetic testing for those at risk of genetic prion disease.

UH physician Brian Appleby, MD serves as Co-Director of the National Prion Disease Pathology Surveillance Center and is a Member of the CJD Foundation’s Board of Directors, and his primary research and clinical interest is prion disease. As such, there is a strong collaboration between the National Prion Disease Pathology Surveillance Center and University Hospitals Cleveland Medical Center.

In collaboration with the CJD Foundation and Cleveland Chapter of the Alzheimer’s Association, UH also sponsors a monthly support group for those affected by prion disease. UH and Case Western Reserve University have several research studies related to prion disease. Please contact us for more information at 216-464-6412.

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