Table 1

Leukoencephalopathies known to present in adulthood

DisorderInheritanceInvestigationGene
Adult-onset leukodystrophies
Inherited disorders of metabolism associated with abnormal biochemical tests
 X linked adrenoleukodystrophyX linkedVery long chain fatty acids ABCD1
 Krabbe diseaseARWCE
(galactocerebrosidase)
GALC, PSAP
 Metachromatic leukodystrophyARWCE (arylsulfatase A)
Urine sulfatides
ARSA
 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
Various