Skip to main content

Table 1 Characteristics of CJD patients carrying the R208H-129 VV haplotype

From: Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

  CJD casesa
1 2 3 4
Country France Czech Republic Italy Italy
Sex/Age at onset (years) M/61 F/62 F/62 F/63
Family history for CJD/dementia No/No No/No No/No No/Yes
Disease duration (months) 7 16 9 30
Symptom at onset Psychiatric symptoms Lower back pain, gait disturbances Akinesia, postural and psychiatric symptoms Psychiatric symptoms
Clinical signs Cognitive impairment Yes Yes Yes Yes
Cerebellar Yes No No Yes
Visual No No No No
Pyramidal/Extrapyramidal No Yes Yes Yes
Myoclonus No Yes No Yes
Akinetic mutism Yes No Yes Yes
Diagnostic features (months from onset) MMSE Not reported 29/30 (8)
17/30 (10)
12/30 (3) 21/30 (4)
EEG typical for CJDb No (5) Yes (8) No (5) Yes (7)
Brain MRI typical for CJDc No (5) Yes (8) Yes (4) Yes (4)
14-3-3 in CSF Negative (5) Positive (10) Negative (6) Positive (7)
RT-QuIC in the CSF Not done Not done Negative (6) Positive (7)
PrPCJD type Type 2A Type 2A Not done Type 2A
Neuropathology Spongiform changes in frontal cortex and striatum; gliosis in striatum and thalamus; Kuru plaques in cerebellum Spongiform changes in frontal cortex; plaque-like structures in cerebral and cerebellar cortices, and basal ganglia Not done Status spongiosus in cerebral cortex, striatum, thalamus and cerebellum; severe astrogliosis in white matter; unicentric amyloid plaques in the cerebellum
  1. aCase 1, Basset-Leobon et al. [2]; case 2, Matej et al. [11]; case 3, Vita et al. [13]; case 4, reported here
  2. bGeneralised triphasic periodic complexes
  3. cHigh signal in caudate/putamen on MRI brain scan or at least two cortical regions (temporal, parietal, occipital) either on DWI or FLAIR