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. 2022 Nov 23;42(47):8881–8896. doi: 10.1523/JNEUROSCI.0455-22.2022

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