Adrenoleukodystrophy - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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04/12/2013

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Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is a genetic disease carried on the X-chromosome. Onset can occur in childhood, adolescence or adulthood. ALD is characterized by the progressive demyelination of the central and peripheral nervous system, adrenal insufficiency, and the build-up in the body of very-long-chain fatty acids. Incidence is estimated at 1 in 17 000 births.

ALD is caused by a defect in the peroxisomal transport of very-long-chain fatty acid (VLCFA) due to ABCD1 gene mutations, encoding the ALD protein (ALDP), an ATP-binding cassette (ABC) halftransporter.

The severe demyelination observed in cerebral chilhood ALD is associated with strong microglia activation. In contrast adult adrenomyeloneuropathy mainly involves axons in the spinal cord and peripheral nerves. Intrafamilial phenotype heterogeneity suggests the involvement of genetic modifiers and/or environmental factors.

For detailed information regarding the different forms of ALD, its genetics, pathophysiology, diagnosis, genetic counseling, treatment options, visit ELA page on ALD.