Table 1 The characteristics of common leukodystrophies in adult
Disease Clinical presentation Abnormal regions or abnormalities on brain MRI Gene mutations
X-ALD SP CST, dorsal columns, CC, PWM ABCD1
Metachromatic leukodystrophy PP, motor impairment bilateral frontal PWM, CC; cortical atrophy ARSA
Krabbe’s disease (GALC) SP or tetraparesis, PDPN, CD, seizures, cortical blindness Supratentorial, CWM, PT, splenium of CC and optic radiation, CST; CC atrophy GALC
VWM (CACH) migraine, PP, dementia, PBP, SP enlargement of the lateral ventricles; WM EIF2B
HDLS/POLD behavioral changes, dementia, motor impairment, epilepsy internal capsules, CST; WM with non-enhancing; frontal lobes atrophy CSF1R
ADLD AS, BBD, OH, PS, ataxia frontoparietal WM, CP, CST, CC LMNB1
Cerebrotendinous xanthomatosis PP, SP, CA, polyneuropathy, tendon xanthomatas dentate nucleus, CWM, CP, PT, PWN, CC, basal ganglia; brain and cerebellar atrophy CYP27A1
NHD/PLOSL PP, memory loss, dementia, skeletal abnormalities nonspecific WM; cortical atrophy TREM2 DAP12
CADASIL migraines, TIA, strokes, PP, CD PWM in the centrum semiovale, external capsules and anterior temporal poles NOTCH3
CARASIL TIA, strokes diffuse WM changes, lacunar infarcts HTRA1
X-ALD X-linked adrenoleukodystrophy, VWM Vanishing white matter disease, CACH childhood ataxia with central hypomylination, HDLS hereditary diffuse leukoencephalopathy with neuroaxonal spheroids, POLD Autosomal dominant pigmentary type of orthochromatic leucodystrophy, ADLD Adult-onset autosomal dominant leukodystrophy, NHD Nasu-Hakola disease, PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, SP spastic paraparesis, PP psychiatric problems, PBP pseudobulbar palsy, WM white matter, CWM cerebellar WM, PT pyramidal tracts, CD cognitive decline, AS autonomic symptoms, BBD bowel and bladder dysfunction, OH orthostatic hypotension, PS pyramidal symptoms, CA cerebellar ataxia, TIA transient ischemic attacks, PDPN peripheral demyelinating polyneuropathy, CST corticospinal tracts, CC corpus callosum, PWM periventricular WM, CP cerebellar peduncles