Table 2.
Laboratory and neuroimaging findings of MM2 c and MM1/classic CJD groups.
| MM2 c (N = 6) | MM1/classic CJD (N = 8) | ||
|---|---|---|---|
| First EEG | |||
| slowing | 4/6 (66.7%) | 6/8 (75%) | |
| paroxysm | (Focal sharp waves or focal spike and wave complexes) | 6/6 (100%) | 0/8 (0%) |
| (Lateralized diffuse sharp waves or lateralized diffuse spike and wave complexes) |
0/6 (0%) | 5/8 (62.5%) | |
| (PSWCs) | 0/6 (0%) | 3/8 (37.5%) | |
| Follow up EEG | |||
| slowing | 6/6 (100%) | 8/8 (100%) | |
| paroxysm | (Focal sharp waves or focal spike and wave complexes) | 3/6 (50%) | 0/8 (0%) |
| (Lateralized diffuse sharp waves or lateralized diffuse spike and wave complexes) |
0/6 (0%) | 1/8 (12.5%) | |
| (PSWCs) | 3/6 (50%) | 7/8 (87.5%) | |
| Abnormal signal on MRI | |||
| CO | 6/6 (100%) | 8/8 (100%) | |
| BG | 0/6 (0%) | 5/8 (62.5%) | |
| TH | 0/6 (0%) | 0/8 (0%) | |
| Cerebrospinal fluid | |||
| T-tau protein positivity | 1/6 (16.7%) | 8/8 (100%) | |
| 14-3-3 protein positivity | 3/6 (50%) | 8/8 (100%) | |
| RT-QuIC positivity | 4/5 (80%) | 6/6 (100%) | |
| Genetics | |||
| Codon129 | Met/Met | 6/6 (100%) | 5/5 (100%) |
| Codon219 | Glu/Glu | 6/6 (100%) | 5/5 (100%) |
| Pathological anatomy | 2/6 (33.3%) | 3/8 (37.5%) | |
BG: basal ganglia, CO: cerebral cortex, EEG: electroencephalogram, Glu: glutamic acid, Met: methionine, MRI: magnetic resonance image, PSWC: paroxysmal sharp wave complex, RT-QuIC: real-time quaking-induced conversion, TH: thalamus, sCJD: sporadic Creutzfeldt-Jakob disease, MM2 c: methionine homozygosity type 2 cortical form.