Table 2.

A literature review of magnetic resonance imaging studies with a diffusion sequence in patients with hereditary diffuse leukoencephalopathy with spheroids

Reference	Cases mentioned in the reports	Sex	Age at onset		MRI interval after symptom	MRI	Follow-up DWI
Freeman et al.[10]	Case 2	F	31		-	Bilateral frontally dominant periventricular deep subcortical T2 hyperintense spots, dif r	NA
	Case 3	F	49		6 mo	Bilateral frontal-subcortical confluent hyperintense spots, spotty dif r	NA
	Case 4	F	38		-	Bilateral frontally dominant periventricular deep subcortical T2 hyperintense spots, dif r	NA
Maillart et al.[36]	Patient 1	F	33		6 mo	Bilateral frontal periventricular areas, corpus callosum, punctate dif r	NA
	Patient 2	F	33		6 mo	Bilateral frontal periventricular areas, corpus callosum, punctate dif r	NA
Mateen et al.[5]	A single case	F	24		7 mo	Bilateral periventricular subcortical T2 hyperintense spots, spotty dif r	Persistent dif r 19 w later
Kleinfeld et al.[9]	Patient 1	F	39		2 y	Bilateral corticospinal hyperintense spots	NA
	Patient 4	F	30		11 mo	Bilateral corticospinal hyperintense spots, extensive dif r	NA
	Patient 5	F	47		2 y	Bilateral corticospinal hyperintense spots, spotty dif r	NA
Terasawa et al.[17]	A single case	F	51		18 mo	Mild frontal atrophy, spotty dif r	Persistent and increasing dif r 13 and 22 mo later
Battisti et al.[50]	Patient 3	M	37		1 y	Brain volume loss, subcortical white matter hyperintensity of both frontal lobes, spotty dif r	NA
Bender et al.[37]		Periventricular dif r was seen in three of four patients with DWI					Persistent dif r was seen over a period of 9 months in a patient
Konno et al.[14]	Case 2	F	30		-	Periventricular dif r	NA
	Case 3	F	27		-	Periventricular dif r	NA
Codjia et al.[15]		Periventricular dif r was seen in six of the eight patients who were investigated by DWI (Details about the patients’ data were not included).					NA
Miura et al.[16]		Periventricular dif r was reported to be present in eight of the eleven patients who were investigated by DWI (Details about the patients’ data were not included).					NA
Current study	Case III-2	F	35	1 y		Bilateral confluent corticospinal hyperintense spots, punctate dif r	Persistent and increasing dif r 7 mo later
	Case III-1	M	28	6 mo		Bilateral confluent corticospinal hyperintense spots, punctate dif r	Persistent and increasing dif r 2 mo later

Abbreviations: Sym on: symptom onset, DWI: Diffusion-weighted imaging, dif r: diffusion restriction, F: female, M: male, mo: months, y: years, w: weeks, NA: not availabel