TableĀ 1

Summary of the clinical characteristics and investigations of patients with CSF1R mutations

CaseMutationFamily historyAge at onsetAge at deathInitial symptomsAdditional symptomsMRINeuropathology
p. V596M
No2535Sensory symptoms, cognitive declineSupranuclear gaze palsy, seizures, pyramidal signsWML, changing DWI positivity suggesting vasculitisSubcortical AS and astrogliosis, pigmented macrophages
p. A763P
No4551Depression, personality changeParkinsonism, apraxia, seizuresWMLMyelin/axonal loss in deep WM with frequent AS and pigmented macrophages
p. E825K
Yes42AliveAtaxia, cognitive declineApraxia, tremorWML, atrophy, TCCNA
4c.2442+1 G>ANo43AliveDepressionParkinsonism, apraxiaWML, atrophy, TCCNA
No29NAFalls, cognitive declineParkinsonism, apraxia, pyramidal signsWML, cortical atrophyNA
  • 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.