Table 3.
The clinical features of ALS patients with SYNGAP1 variant rs149438267
Sex | M | F | M | F | M | M | F |
---|---|---|---|---|---|---|---|
Age at onset | 64 | 57 | 66 | 75 | 66 | 77 | 75 |
Clinical diagnosis based on the revised El Escorial criteria | Probable laboratory supported | Probable laboratory supported | Definite | Probable | Probable | Definite | Probable |
Initial symptoms | Upper limb weakness | Upper limb weakness | Dysarthria | Upper limb weakness | Dysarthria, dysphagia, dyspnea | Dysarthria | Dysarthria |
Duration from onset to death (month) | 30 | 64 | 9 | 29 (censored observation) | 7 | 18 | 38 |
Upper motor symptom | + | + | + | + | + | + | + |
Lower motor symptom | + | + | + | + | + | + | + |
Active denervation in EMG | + | + | + | + | + | + | + |
Chronic denervation in EMG | + | + | + | + | + | + | − |
Dementia | − | + | − | − | − | − | − |
Cognitive tests | Not examined | MMSE 23, FAB 7 | Not examined | MMSE 26, FAB 13 | Not examined | MMSE 20, FAB 14 | Not examined |