Table 1.

Classification of adult-onset leukodystrophies based on underlying pathology.

Hypomyelination
Pelizaeus-Merzbacher disease
POLR3-related disorders
Demyelination
Metachromatic leukodystrophy
Globoid cell leukodystrophy (Krabbe disease)
X-linked adrenoleukodystrophy (cerebral form)
Adrenomyeloneuropathy
LMNB1-related autosomal dominant demyelinating leukodystrophy
Cerebrotendinous xanthomatosis
Myelin vacuolization
X-linked Charcot-Marie-tooth disease
Phenylketonuria
Mitochondrial diseases with leukoencephalopathy
Microgliopathies
CSF1R-related leukoencephalopathy (adult-onset leukoencephalopathy with axonal
spheroids and pigmented glia)
Astrocytopathies
Alexander disease
CLCN2-related leukoencephalopathy
Vanishing white matter disease
Leuko-axonopathies
Gordon Holmes syndrome
Neuronal intranuclear inclusion disease
Leukoencephalopathy with brain stem and spinal cord involvement and lactate
elevation
AARS2-related leukoencephalopathy
Leuko-vasculopathies
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
COL4A1-related cerebral small vessel disease
Leukoencephalopathy with cysts and calcifications
Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations
Fabry disease
Other
α-methyl-acyl-CoA-racemase (AMACR) deficiency
Fragile X-associated tremor ataxia syndrome