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Table 1 Clinical and diagnostic findings in p-CJDMM1

From: Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature

case gender age at onset [years] disease duration [months] symptom(s) at onset symptoms during disease course [months from onset] EEG Brain MRI CSF 14–3-3 protein CSF t-tau protein (pg/ml)
case #1 F 70 24 vision loss lower limb weakness [1], hypophonia [1], anxiety [1], spatial and temporal disorientation [8], aphasia [8], agraphia [9], ataxia [9], pseudobulbar palsy [10], myoclonus [11], akinetic mutism [11] PSWCs nonspecific atrophya positive N/A
case #2 M 65 21 behavioral changes (apathy, depression) memory loss [2], agraphia [2], ataxia [3], dysphagia [7], dysarthria [7], dysmetria [7], pyramidal hypertonia at right leg [7] PSWCs bilateral parietal and temporal, right frontal and basal ganglia hyperintensity on DWI positive 10,804
case #3 F 48 34 ideomotor slowing, blurriness of vision, upper right limb tremor and incoordination unsteady gait [0.5], dysarthria [0.5], myoclonus [1], multi-modal hallucinations [2], akinetic mutism [3.5] PSWCs typical hyperintensity on T2 and FLAIR sequences associated with severe atrophy positive 8488
case #4 F 48 18 anorexia, weight loss ataxia [2], tremor [2], speech abnormalities [2], akinetic mutism [8] PSWCs nonspecific atrophya positive 2955
case #5 M 60 13 loss of concentration, dizziness memory loss [2], apraxia [3], gait abnormalities [4], severe dysarthria [12], myoclonus [12], ataxia [12], loss of gait [12] diffuse slowing subtle hyperintensity of left parietal cortex on DWI negative 1604
  1. aBrain MRI lacking DWI sequences; PSWCs= periodic sharp-waves complexes