Table A1

 Key points for clinical practice

*Available via UK National Prion Clinic (www.nationalprionclinic.org).
†For example, those carrying or at risk of having inherited PRNP mutations, those treated with human cadaveric pituitary-derived growth hormone or gonadotrophin (usage ceased in UK in 1985) or relevant tissue grafts (cornea, dura mater), or identified recipients of potentially vCJD contaminated blood and blood products.
• Prion diseases are transmissible but not contagious: no risk to carers or partners. They are not sexually transmissible and there is no evidence to date for maternal transmission, including via breast feeding. Risk to medical professionals arises principally in the context of accidental inoculation with sharps used on infected tissues or fluids.
• Prions may resist conventional sterilisation and there is evidence for transmission of vCJD prion infection by blood transfusion. All patients with, or at risk† of, prion disease should be counselled not to be blood donors and to inform surgeons and dentists of their risk status prior to surgery. Hospitals should attempt to identify such individuals prior to surgery: a suggested questionnaire is available.*
• Inherited prion diseases are a significant cause of pre-senile dementia and clinically mimic other conditions; a family history is not always apparent. Should analyse PRNP in all suspected cases of CJD, and consider PRNP analysis in all early onset dementia and ataxias.* Always exclude PRNP mutations prior to brain or tonsil biopsy.
• In variant CJD, in contrast to classical CJD, there is extensive infection of LRS tissues. Firm tissue diagnosis of variant CJD can be made by identification of typical PrPSc at tonsil biopsy. LRS infection is thought to precede neuroinvasion and is likely to have been present long (years) before clinical onset allowing early diagnosis.
• In 2004, the Department of Health established a National Referral System for prion disease in the UK. Neurologists are asked to complete a referral form* to notify both the National Prion Clinic in London and the National CJD Surveillance Unit in Edinburgh of any suspected cases. New diagnoses of prion disease should be notified to a local consultant in communicable disease control.
• Specialist advice and care is available via the NHS National Prion Clinic and the National CJD Surveillance Unit.
• A clinical trial centre has been established to co-ordinate therapeutic trials in prion disease in the UK. The MRC PRION-1 trial,* a partially randomised patient preference study, is underway and is recruiting patients into a study of quinacrine and also studying the natural history and disease markers in patients who do not elect treatment currently.