Table 1 Clinical and diagnostic findings in p-CJDMM1
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 |