In adulthood, X-ALD most commonly manifests as a gradually progressive myelopathy (adrenomyeloneuropathy; AMN) without any curative or disease modifying treatments.
Clinical and sural nerve biopsy findings in two brothers and their mother affected by adrenomyeloneuropathy/adrenoleukodystrophy (AMN/ALD) illustrate the variability of histopathological changes in this disorder.
This finding and the previous findings of a 45% frequency of phenotypic color vision defects in patients with AMN may suggest that the ALD/AMN gene lies 5' to the red pigment gene and that the frequent phenotypic color vision anomalies owe their origin to deleted DNA that includes regulatory genes for color vision.