Clinical Neurology · Child Neurology
Leukodystrophies
Leukodystrophies and related white-matter disorders — inheritance, enzyme defect, clinical picture, and MRI pattern.
| Disease | Inheritance | Enzyme / defect | Clinical picture | MRI |
|---|---|---|---|---|
| Adrenoleukodystrophy (peroxisomal) | XL-R (ABCD gene) | Failure of peroxisomal β-oxidation of VLCFA | 3 phenotypes:
|
|
| Zellweger (cerebrohepatorenal; peroxisomal) | AR (PEX1) | Absence of peroxisomes |
|
|
| Metachromatic leukodystrophy (lysosomal) | AR (ARSA) | Arylsulfatase A |
|
|
| Krabbe (globoid cell; lysosomal) | AR (GALC) | Galactocerebrosidase | Peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
|
| Fabry (lysosomal) | XL-R | α-galactosidase | Posterior-circulation strokes, peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular disease | Pulvinar hyperintensity |
| Canavan (spongiform degeneration of white matter; amino-acid) | AR | Aspartoacylase | Macrocephaly, severe mental deficits, blindness |
|
| Alexander (fibrinoid) | GFAP gene | — |
|
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LIGHTS on RITE by Ahmed Koriesh