Summary of the clinical characteristics and investigations of patients with CSF1R mutations
| Case | Mutation | Family history | Age at onset | Age at death | Initial symptoms | Additional symptoms | MRI | Neuropathology |
|---|---|---|---|---|---|---|---|---|
| 1 | c.1786G>A p. V596M | No | 25 | 35 | Sensory symptoms, cognitive decline | Supranuclear gaze palsy, seizures, pyramidal signs | WML, changing DWI positivity suggesting vasculitis | Subcortical AS and astrogliosis, pigmented macrophages |
| 2 | c.2287G>A p. A763P | No | 45 | 51 | Depression, personality change | Parkinsonism, apraxia, seizures | WML | Myelin/axonal loss in deep WM with frequent AS and pigmented macrophages |
| 3 | c.2473G>A p. E825K | Yes | 42 | Alive | Ataxia, cognitive decline | Apraxia, tremor | WML, atrophy, TCC | NA |
| 4 | c.2442+1 G>A | No | 43 | Alive | Depression | Parkinsonism, apraxia | WML, atrophy, TCC | NA |
| 5 | c.1987G>A E633K | No | 29 | NA | Falls, cognitive decline | Parkinsonism, apraxia, pyramidal signs | WML, cortical atrophy | NA |
AS, axonal spheroids; CSF1R, colony stimulating factor-1 receptor; DWI, diffusion weighted imaging; NA, not applicable; TCC, thinning of the corpus callosum; WML, white matter lesions.