Table 1

Leukoencephalopathies known to present in adulthood

Adult-onset leukodystrophies
Inherited disorders of metabolism associated with abnormal biochemical tests
 X linked adrenoleukodystrophyX linkedVery long chain fatty acids ABCD1
 Krabbe diseaseARWCE
 Metachromatic leukodystrophyARWCE (arylsulfatase A)
Urine sulfatides
 Cerebrotendinous xanthomatosisARSerum cholestenol, urine bile alcohols CYP27A1
 Methylenetetrahydrofolate reductase deficiencyARPlasma amino acid profile MTHFR
 HomocystinuriaARPlasma amino acid profile CBS
 mtDNA mutationsMaternalmtDNA sequencing
Blood/cerebrospinal fluid lactate
Muscle biopsy
Genetic leukoencephalopathies
 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented gliaHDLSAD CSF1R
 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyCADASILAD NOTCH3
 Cerebral autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathyCARASILAR HTRA1
 Cathepsin A-related arteriopathy with strokes and leukoencephalopathyCARASALAD CTSA
 Cerebral leukodystrophy with retinal vasculopathyAD TREX1
 Small vessel disease with ocular abnormalitiesAD COL4A1
 Alexander diseaseAD GFAP
 Adult-onset autosomal dominant leukodystrophyADLDAD LMNB1 duplication
AARS2-related leukodystrophy AARS2-LAR AARS2
 Vanishing white matter diseaseVWMAR EIF2B1-5
 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationLBSLAR DARS2
 Mitochondrial neurogastrointestinal encephalopathyMNGIEAR TYMP
 Pelizaeus-Merzbacher diseasePMDX linked dominant PLP1
 Pelizaeus-Merzbacher-like diseasePMLDAR GJC2
 Adult polyglucosan body diseaseAPBDAR GBE
 Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellumH-ABCAD TUBB4A
 Leukoencephalopathy with ataxiaLKPATAR CLCN2
 4H syndromeAR POLR3A/POLR3B
 Labrune syndromeAR SNORD118
 Gordon Holmes syndromeAR RNF216
 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyPLOSLAR TREM2
  • AD, Autosomal Dominant; AR, Autosomal recessive; WCE, White Cell Enzymes.