Letter to Neurologists

In the past few weeks we believe we may have identified a new clinico-pathological phenotype of CJD which may be unique to the United Kingdom. This raises the possibility of a causative link between BSE and CJD. These cases have been very difficult to diagnose clinically because the clinical phenotype is largely distinct from that previously seen in CJD.

It is essential that we identify these cases through the surveillance system and the clinical and pathological features are:-

An early age of onset or death (average 27.6, range 18-41)

A prolonged duration of illness (average 13.1 months, range 7.5 - 24)

A predominantly psychiatric presentation including anxiety, depression withdrawal and behavioural change which progresses. Nearly all these patients were referred to a psychiatrist early in the clinical course.
The first evidence of neurological involvement in 4 patients was dysaestheesiae in the limbs and/or face.

After a period of weeks or months the development of a cerebellar syndrome with gait and limb ataxia.

Forgetfulness and memory disturbance develop, often late in the clinical course but progress with the development of sever cognitive impairment and a state of akinetic mutism in the majority of cases.

Myoclonus develops in the majority of patients and in some is preceded by choreiform movements, but typical EEG appearances of CJD are absent.

Neuropathologically there is spongiform change, neuronal loss and astrocytic gliosis most evident in the basal ganglia and thalamus. The most striking and consistent neuropathological feature is amyloid plaque formation extensively distributed throughout the cerebrum and cerebellum.

COULD YOU PLEASE NOTIFY THE CJD SURVEILLANCE UNIT OF ANY SUCH CASE WITH THIS CLINICAL OR NEUROPATHOLOGICAL PROFILE, WHETHER OR NOT THE PRESENTATION IS IN THE YOUNGER AGE GROUP. COULD YOU ALSO CHECK YOUR RECORDS AND NOTIFY ANY SIMILAR CASES THAT MAY IN RETROSPECT FIT WITH THIS CLINICOPATHOLOGICAL PROFILE.

Four of the recently identified cases were confirmed by brain biopsy. If you are considering brain biopsy in any suspect cases of CJD it is essential to follow the Department of Health guidelines which state that neurosurgical instruments used on any case of CJD must be destroyed and not reused.

The identification of a form of CJD that might be casually linked to BSE will result in widespread anxiety and concern. It is unlikely that there will be an increase in neurological referrals, particularly as the early symptoms are relatively non-specific. From a neurological perspective the early identification of this potentially new form of CJD may depend on a history of evolving psychiatric disturbance followed by clear evidence of cerebellar syndrome ± memory disturbance.

It is likely that neurologists will receive numerous requests for information and advice. The DoH has a recorded information message for members of the general public (Tel: 0800 344355) and can also provide information (Tel: 0171 972 5057).

I am most grateful for your cooperation with the CJD Surveillance System in the past and I would be grateful if you could continue to notify the Surveillance Unit of any suspect case of CJD.

Dr R G Will
National Creutzfeldt-Jakob Disease Surveillance Unit
Western General Hospital
Crewe Road
Edinburgh EH4 2XU