New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire

Since a report in 1996 of 10 cases of Creutzfeldt-Jakob disease (CJD) with onset in a younger than usual age, a pattern of the disease has emerged. Th is includes early neuropsychiatric features and sensory symptoms and neurol ogical signs such as ataxia and involuntary movements later in the course o f the disease. Three patients with varied clinical presentations and diseas e course seen at a single neurology unit are described. The first patient w as characterised by cognitive and psychiatric symptoms together with neurol ogical signs. The second patient presented with unusual behavioural disturb ance and episodes of collapse. The third patient exhibited striking psychom otor retardation and had abnormal CSF and MRI findings. All patients succum bed in a state of akinetic mutism and myoclonus. All three patients had the methionine/methionine genotype at codon 129 of the PrP gene and in two of the three patients a tonsil biopsy was performed with positive results. The se two patients also tested positive for the 14.3.3. protein in the CSF. Whereas late features of the disease seem very similar in all cases, the in itial presentation was variable and underlines the uncertainty of the range of the clinical phenotype. Successful diagnosis demands a high index of cl inical suspicion.