Table 2 Comparison of clinical and radiological features according to CSF1R gene mutation status.
|  | CSF1R gene mutation (N = 9) | CSF1R gene mutation negative (N = 19) | p-value |
|---|---|---|---|
Sex (male) | 5 (55.6%) | 7 (36.8%) | 0.432 |
Onset age | 45.0 [44.0;46.0] | 63.0 [58.0;70.0] | 0.006 |
MMSE | 17.0 [13.0;27.0] | 19.0 [14.5;27.0] | 0.805 |
Family history | 3 (33.3%) | 9 (47.4%) | 0.687 |
Clinical features | |||
 Cognitive impairment | 8 (88.9%) | 19 (100.0%) | 0.321 |
 Psychiatric symptoms | 6 (66.7%) | 18 (94.7%) | 0.084 |
 Pyramidal signs | 5 (55.6%) | 9 (47.4%) | 1.000 |
 Parkinsonism | 5 (55.6%) | 10 (52.6%) | 1.000 |
 Seizure | 1 (11.1%) | 7 (36.8%) | 0.214 |
 Rapidly progressive course* | 8 (88.9%) | 5 (26.3%) | 0.004 |
Brain imaging features | |||
 Diffuse brain atrophy | 8 (88.9%) | 13 (68.4%) | 0.371 |
 Bilateral cerebral WMH | 9 (100.0%) | 19 (100.0%) | 1.000 |
 Thinning of the corpus callosum | 7 (77.8%) | 10 (52.6%) | 0.249 |
 Hyperintensity in splenium | 0.008 | ||
  None | 2 (22.2%) | 6 (31.6%) |  |
  Focal | 1 (11.1%) | 11 (57.9%) |  |
  Diffuse | 6 (66.7%) | 2 (10.5%) |  |
 Hyperintensity in corticospinal tract | 4 (44.4%) | 2 (10.5%) | 0.064 |
 DWI restriction | 5/8 (62.5%) | 6/19 (31.6%) | 0.206 |
 Spotty small calcifications | 1/8 (12.5%) | 2/19 (10.5%) | 1.000 |
Konno’s diagnostic criteria | 0.007 | ||
 Possible | 4 (18.2%) | 18 (81.8%) |  |
 Probable | 5 (83.3%) | 1 (16.7%) |  |
