Natural history of brain lesions in X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is the most common inherited leukodystrophy (1:15,000 birth incidence) and is caused by mutations in the ABCD1 gene leading to accumulation of very long chain fatty acids.1,2 The ALD genotype confers several independent but overlapping phenotypes: adrenal insufficiency, adrenomyeloneuropathy (an adult-onset spastic paraplegia and neuropathy syndrome), and cerebral ALD (cALD). The dreaded cALD phenotype is...