Creutzfeldt-Jakob Disease Support Group

The first symptom of CJD is rapidly progressive dementia, leading to memory loss, personality changes and hallucinations. This is accompanied by physical problems such as speech impairment, jerky movements (myoclonus), balance and coordination dysfunction (ataxia), changes in gait, rigid posture, and seizures. The duration of the disease varies greatly, but sporadic (non-inherited) CJD can be fatal within months or even weeks (Johnson, 1998). In most patients, these symptoms are followed by involuntary movements and the appearance of a typical diagnostic electroencephalogram tracing.

The symptoms of CJD are caused by the progressive death of the brain's nerve cells, which is associated with the build-up of abnormal prion proteins. When brain tissue from a CJD patient is examined under a microscope, many tiny holes can be seen where whole areas of nerve cells have died. The word 'spongiform' in 'transmissible spongiform encephalopathies' refers to the 'spongy' appearance of the brain tissue.

A new variant of the disease (usually called just variant Creutzfeldt-Jakob Disease (vCJD) but sometimes new variant Creutzfeldt-Jakob Disease (nvCJD)) is distinguished from the classical type by its early onset (usually in the 20s) and a predominance of psychiatric and sensory symptoms. The prions in this form are thought to be transmitted by consuming the nervous tissue of bovines with so-called mad cow disease (Bovine Spongiform Encephalopathy), although there is no definite proof of this association as yet. It has been shown, however, that PRPSc particles accumulate in gastrointestinal lymphoid tissue (specifically, Peyer's patches) in animals after oral infection (Maignien et al 1999; Beekes and McBride, 2000; Shmakov and Ghosh, 2001; Ghosh 2002). Furthermore, in vitro studies have shown the uptake of these particles by human gastrointestinal tract cells (Morel et al, 2005). Further suggestive of an oral route of transmission in humans is the fact that over 95% of identified cases of vCJD are in Britain, which suffered a mad cow disease epidemic in the mid-80s.

As of May 2006, there is no cure for CJD, a fatal disease, and the search for viable treatments continues.

An experimental treatment was given to a Northern Irish teenager, Jonathan Simms in January 2003. The drug, called pentosan polysulphate (PPS) and commonly used to treat cystitis, was infused into the patient's lateral ventricle within the brain. Simms has remained stable since the treatment. The drug may slow or halt the progress of the disease but does not improve the patient's health and is not widely available in the UK.