New variant XXXX : three case reports from Leicestershire.

@entity1 @entity146 @entity2045 @entity2358 @entity3605 @entity2845 @entity1853 @entity3669 @entity1155
Since a report in 1996 of 10 cases of @entity3605 ( @entity3605 ) with onset in a younger than usual age, a pattern of the disease has emerged. This includes early @entity146 and sensory symptoms and neurological signs such as ataxia and @entity2358 later in the course of the disease. Three @entity1 with varied clinical presentations and disease course seen at a single neurology unit are described. The first @entity1 was characterised by cognitive and @entity146 symptoms together with neurological signs. The second @entity1 presented with unusual behavioural disturbance and episodes of collapse. The third @entity1 exhibited striking @entity1155 and had abnormal CSF and MRI findings. All @entity1 succumbed in a state of @entity2845 mutism and @entity2045 . All three @entity1 had the @entity1853 / @entity1853 genotype at codon 129 of the @entity3669 gene and in two of the three @entity1 a tonsil biopsy was performed with positive results. These two @entity1 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 initial presentation was variable and underlines the uncertainty of the range of the clinical phenotype. Successful diagnosis demands a high index of clinical suspicion.
