Table 2.

Clinical characteristics of 13 participants with pediatric genetic white matter disorders

Case	Gender	Age/AOO	Clinical symptom	Brain MRI	APOE
1	Male	11/10	Progressive visual impairment, speech problem, adrenocortical insufficiency	Bilateral WMH in parieto-occipital region	ε2ε3
2	Male	28/13	Progressive speech problem, memory deficit, visuospatial impairment, ataxia, adrenocortical insufficiency	Bilateral WMH in parieto-occipital region	ε3ε3
3	Male	11/10	Progressive intellectual impairment, visual and auditory impairment, dysarthria, ataxia, spastic paraplegia, adrenocortical insufficiency	Bilateral WMH in parieto-occipital region, degeneration of corticospinal tracts in brainstem	ε2ε2
4	Male	14/12	Progressive intellectual impairment, visual impairment, ataxia, spastic paraplegia	Bilateral WMH in tempo-parieto-occipital region, splenium of corpus callosum	ε3ε3
5	Male	17/16	Intellectual impairment, dysuria after syncope	Bilateral WMH in centrum semiovale, corona radiata	ε3ε3
6	Male	29/7	Progressive ataxia, rapid deterioration of cognitive function, psychosis, spastic tetraplegia, dysuria after trauma	Bilateral diffuse WMH in centrum semiovale, corona radiata, middle cerebellar peduncles, cystic degeneration	ε3ε3
7	Female	22/12	Progressive intellectual impairment, spastic tetraplegia, dysarthria, dysuria, seizure	Bilateral diffuse WMH in centrum semiovale, corona radiata, middle cerebellar peduncles, cystic degeneration, restricted diffusion	ε3ε3
8	Male	2/1.5	Motor regression, spastic tetraplegia, dysarthria, feeding difficulties	Bilateral diffuse WMH in centrum semiovale, corona radiata, splenium of corpus callosum, restricted diffusion, stripe-like pattern	ε3ε3
9	Male	28/17	Progressive cognitive impairment, pyramidal sign	Bilateral diffuse WMH in periventricular area	ε3ε3
10	Male	13/3	Motor development delay, intellectual disability, seizure	Bilateral diffuse WMH in centrum semiovale, corona radiata, corpus callosum, middle cerebellar peduncles	ε3ε3
11	Male	15/12	Progressive intellectual impairment, peripheral neuropathy, pyramidal sign	Diffuse WMH in subcortical regions and cerebellum, restricted diffusion	ε3ε3
12	Male	1.5/0.8	Developmental retardation, optic atrophy	Bilateral diffuse WMH in centrum semiovale, corona radiata	ε3ε3
13	Female	29/16	Auditory impairment, psychosis after delivery, dysplasia of left femur head, deformity of left toe	Bilateral diffuse WMH in centrum semiovale, corona radiata, cerebellum, brainstem	ε4ε4

AOO, age of onset; APOE, apolipoprotein e; WMH, white matter hyperintensities