Creutzfeldt-Jakob Disease: General Overview

Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/01 - Updated: 2023/01/28
Topic: Neurological Disorders - Publications List

Page Content: Synopsis - Introduction - Main

Synopsis: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, invariably fatal brain disorder primarily characterized by mental deterioration. Sporadic CJD is the most common form of the disease. It accounts for 85% of cases. The cause of sporadic CJD is unknown, but it is believed that a normal cellular protein undergoes a spontaneous change in conformation (prion protein) that results in the disease.

Introduction

Creutzfeldt-Jakob Disease alternate names: Jakob-Creutzfeldt Disease, Jakobs Disease, Subacute Spongiform Encephalopathy, Variant (V-CJD) Bovine Spongiform Encephalopathy (BSE), Fatal Familial Insomnia (FFI), Gerstmann-Straussler-Scheinker (GSS) Disease, Prion disease, Mad Cow Disease.

The U.S. Social Security Administration (SSA) has included Creutzfeldt-Jakob Disease (CJD) - Adult, as a Compassionate Allowance to expedite a disability claim.

Main Item

CJD belongs to human and animal diseases known as transmissible spongiform encephalopathies (TSE) or prion diseases. Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope.

Typically, Creutzfeldt-Jakob Disease symptoms start at about age 60 and run a rapid course. There are four major categories of CJD:

• Sporadic CJD,
• Hereditary CJD,
• Acquired or iatrogenic CJD
• Variant CJD.

Sporadic CJD is the most common form of the disease. It accounts for 85% of cases. The cause of sporadic CJD is unknown, but it is believed that a normal cellular protein undergoes a spontaneous change in conformation (prion protein) that results in the disease. This form of disease is believed to be spontaneous and not the result of an infection.

Hereditary or familial CJD is a very uncommon disease resulting from a mutation in the gene that encodes the prion protein. About 5 to 10 percent of cases of CJD in the United States are hereditary.

Acquired or Iatrogenic CJD is rare, accounting for less than 1% of cases. It results from accidental transmission during medical interventions. Examples include transmission in cases of corneal transplantation, dural grafts, or treatment with Human Growth Hormone isolated from cadaveric pituitary glands.

Variant CJD was first reported in 1996. It is believed to be the result of eating meat from cattle with bovine spongiform encephalopathy (BSE or mad cow disease). In contrast with sporadic CJD, which affects older people, the variant form primarily affects young subjects (i.e., in the late 20s) and may have a longer course, between one and two years.

The diagnosis of CJD is suspected when there are typical clinical symptoms such as rapidly progressing dementia with myoclonus (twitching). Currently, there is no diagnostic test for CJD except for brain biopsy. The first concern is to rule out treatable forms of dementia, such as encephalitis or chronic meningitis.

The following investigations can be performed to support the diagnosis:

• Electroencephalography - often has characteristic triphasic spikes
• MRI of the brain - often shows high signal intensity in the caudate nucleus and putamen bilaterally on T2-weighted images.
• Cerebrospinal fluid analysis for 14-3-3 protein. The presence of this protein supports the diagnosis of CJD but is not specific.
• Tonsil biopsy helps diagnose variant CJD but less so in other forms of the disease.

Brain biopsy is a definitive diagnostic test performed only in selected cases because the procedure may be dangerous to the individual. Since a correct diagnosis of CJD does not help the individual, brain biopsy is discouraged unless it is needed to rule out a treatable disorder.

Currently, no treatment can cure or control CJD. Current treatment aims to alleviate symptoms and make patients as comfortable as possible. Opiate drugs can help relieve pain; the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.

About 90 percent of patients die within one year. In the early stages of the disease, patients 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.

Author Credentials: Ian was born and grew up in Australia. Since then, he has traveled and lived in numerous locations and currently resides in Montreal, Canada. Ian is the founder, a writer, and editor in chief for Disabled World. Ian believes in the Social Model of Disability, a belief developed by disabled people in the 1970s. The social model changes the focus away from people's impairments and towards removing barriers that disabled people face daily. To learn more about Ian's background, expertise, and achievements, check out his bio.