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Table 1 Overview of clinical data and performed examinations in the six patients

From: Rapidly progressive dementia with thalamic degeneration and peculiar cortical prion protein immunoreactivity, but absence of proteinase K resistant PrP: a new disease entity?

Patient Case 1 Case 2 Case 3 Case 4 Case 5 Case 6
Age at death 77 55 81 74 62 80
Duration of illness 12 12 2 7 9 7
Sex F F M F M F
Codon 129 MM MM MM MV NA NA
Symptoms       
Progressive dementia + + + + + +
Ataxia (Gait or Limb) + + + + + +
Parkinsonism - + - + + -
Myoclonus + + + + - -
Chorea - + - - - -
Pyramidal signs + + - - - -
Oculomotor disturbance - - - - - +
Cortical blindness - - + - - -
Clinical suspicion CJD CJD CJD CJD DLB + ALC WE/CJD
WHO Criteria (CJD) Prob Poss Prob Prob * -
Examinations       
CSF 14-3-3 + NA + + NA NA
MRI No No Yes Yes Yes Yes
CDI (PM) Yes Yes NA Yes NA NA
WB (PM) Yes Yes NA Yes NA NA
Neuropathology       
BB stage 2 2 2 0 0 2
Thal Phase No 1 1 No No 1
Lewy body (B Stage) No No No No No No
phTDP-43 No No No No No CA1 syn
Other No No AG, MH No No No
  1. *Retrospectively could be evaluated as “possible CJD”. Abbreviations: F female, M male, CJD Creutzfeldt-Jakob disease, DLB dementia with Lewy bodies, ALC alcoholic encephalopathy, WE Wernicke encephalopathy, AG argyrophilic grains, MH microhaemorrhages in the hypothalamus, NA not available, CA1-syn synaptic deposits in hippocampus CA1. Thal phase indicates the phases (1–5) of the deposition of beta-amyloid in the brain [28]. BB indicates Braak and Braak stages of neurofibrillary degeneration [29].