Table 3.

Neuroimaging characteristics of the patients with CSF1R‐related leukoencephalopathy.

Patient no/mutation	Patient I/p.T79M	Patient II/p.K586*	Patient III/p.G589R	Patient IV/p.R777Q	Patient V/p.R782C
T 2‐weighted or FLAIR images of MRI
White matter hyperintensity	Frontoparietal region, anterior temporal pole	Frontoparietal region	Frontoparietal region	Frontal involvement predominant	Frontal involvement predominant
Thinning or hyperintensity of corpus callosum	Present	Present	Present	Present	Present
Cavum septum pellucidum	None	None	Present	Present	Present
DWI (diffusion‐weighted imaging) of MRI
Diffusion‐restricted lesions	None	Bilateral corticospinal tracts	Bilateral corticospinal tracts, corpus callosum, periventricular white matter	Frontoparietal periventricular white matter	ND
CT (computed tomography)
Calcification	None	None	Periventricular, parietal subcortical regions	ND	ND

FLAIR, fluid‐attenuated inversion recovery; ND, not done.