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Creutzfeldt-Jakob disease
How is it diagnosed?
There is, at present, no absolutely specific diagnostic test for CJD in life, aside from brain biopsy. However, a reasonably confident diagnosis of all forms of CJD is generally possible on purely clinical grounds, with the support of medical investigations including brain MRI (Magnetic Resonance Imaging) scans, EEG (electro-encephalogram recordings) and CSF (cerebro-spinal fluid) examinations. A genetic cause can be determined by PRNP gene analysis performed on a simple blood sample.
There is continuing surveillance of CJD in the UK, undertaken by the National CJD Surveillance Unit at Edinburgh. The Unit also has a Care Team who advise on, and help to co-ordinate, care of people with all forms of CJD.
Background
| Inheritance patterns and prenatal diagnosis 
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