Table 3.

Neuroimaging characteristics of common disorders with de/dysmyelination

Confluency and area of predominance
Diffuse and symmetric	Area of predominance	Disorders
	Subcortical	Glutaric aciduria (Fig 1B) Canavan disease (Fig 1B) Urea cycle defects
	Frontal lobe	Alexander disease Metachromatic leukodystrophy (Fig 1B) Neuroaxonal leukodystrophy with axonal spheroids
	Periventricular	Metachromatic leukodystrophy (Fig 1B) Krabbe disease Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Periventricular leukomalacia (Fig S1)
	Occipital	Krabbe disease (Fig 1B) X-linked adrenoleukodystrophy Peroxisomal disorders
	Diffuse cerebral	Vanishing white matter disease (Fig 1B) Megalencephalic leukoencephalopathy with subcortical cysts (Fig 1B) Merosin deficient congenital muscular dystrophy (Fig 1B) Mitochondrial disorders Most leukodystrophies at the advanced stages HIV encephalopathy (Fig S1) Toxic leukoencephalopathy (Fig S1)
	Cerebellar	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leigh disease (Fig 1B) Alexander disease Maple syrup urine disease (Fig 1B) Adult onset autosomal dominant leukodystrophy
	Brainstem	Leigh disease (Fig 1B) Wilson disease Alexander disease Krabbe disease (Fig 1B) Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
	Spinal Cord	Alexander disease Mitochondrial disorders (Fig 1B) Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Focal and asymmetric	Genetic vasculopathies	Brain small vessel disease Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Microangiopathy and leukoencephalopathy, pontine, autosomal dominant Aicardi-Goutières syndrome (Fig 1B) Cerebral amyloid angiopathy Leukoencephalopathy with calcifications and cysts Cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral AR arteriopathy with subcortical infarcts and leukoencephalopathy (Fig 1B) RNASET2-related leukodystrophy NGLY1 related congenital disorder of deglycosylation Cathepsin A-related arteriopathy with strokes and leukodystrophy
	Acquired disorders with white matter abnormalities	Optic neuritis Transverse myelitis Acute disseminated encephalomyelitis (Fig S1) Multiple sclerosis (Fig S1)
Special MRI characteristics
Cystic changes		Megalencephalic leukoencephalopathy with subcortical cysts (Fig 1B) Mitochondrial disorders (Fig 1B) Vanishing white matter disease (Fig 1B) Glutaric aciduria (basal ganglia)
Calcifications		Aicardi-Goutieres syndrome (Fig 1B) Galactosialidosis Brain small vessel disease with or without ocular anomalies Labrune's Syndrome or Leukoencephalopathy with Calcifications and Cysts Cerebro Retinal Microangiopathy with Calcifications and Cysts (Coats Plus Syndrome) Pseudo-TORCH syndrome 1 AARS2 related disease KARS2 related disease Adult onset leukoencephalopathy with axonal spheroids and pigmented glia COL4A1-related disorders Retinal vasculopathy with cerebral leukoencephalopathy Cerebral amyloid angiopathy Primary familial brain calcification Pseudohypoparathyroidism Leukoencephalopathy with calcifications and cysts
Magnetic Resonance Spectroscopy	Elevated lactate	Mitochondrial disorders (Fig 1B) Some metabolic disorders (mild elevation)
	Altered metabolites	Ribose 5-phosphate isomerase deficiency (Elevated levels of arabitol and ribitol) Canavan disease (elevated N-acetylaspartic acid) (Fig 1B)