Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry

H. W. Moser, A. B. Moser, N. Kawamura, B. Migeon, B. P. O'Neill, C. Fenselau, Y. Kishimoto

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41 Scopus citations

Abstract

Adrenoleukodystrophy (ALD) is an X-linked disorder associated with progressive demyelination and with adrenal insufficiency. It was first described by Siemerling and Creutzfeld and has also been referred to as 'bronzed Schilder's disease because of the combination of skin pigmentation and progressive cerebral white matter disease in childhood. In 1977 Griffin et al. showed a close relationship between ALD and a more indolent neurological disorder, adrenomyeloneuropathy (AMN). AMN is also associated with adrenal insufficiency, but it differs from ALD in that it may not begin until the second or third decade or even later, and the neurologic manifestations point to spinal cord or peripheral nerve rather than brain involvement. Schaumburg et al. and Powell et al. made the important observation that adrenal cortical cells and brain white matter macrophages contain characteristic cytoplasmic inclusions. This led to the recognition that ALD and AMN are lipid storage diseases. and shortly thereafter, to the demonstration of a specific biochemical abnormality: the accumulation of unbranched saturated or monounsaturated fatty acids with a carbon chain length of 24 to 30. These fatty acids may account for up to 40% of the total fatty acids of the cholesterol esters and gangliosides of the cerebral white matter and the adrenal cortex. They are not found in any other known disorders. More recently, less striking, but statistically significant, accumulations of these same fatty acids have also been noted in cultured skin fibroblasts, in cultured muscle cells, and in the plasma.

Original languageEnglish (US)
Pages (from-to)217-224
Number of pages8
JournalJohns Hopkins Medical Journal
Volume147
Issue number6
StatePublished - 1980

ASJC Scopus subject areas

  • Medicine(all)

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    Moser, H. W., Moser, A. B., Kawamura, N., Migeon, B., O'Neill, B. P., Fenselau, C., & Kishimoto, Y. (1980). Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. Johns Hopkins Medical Journal, 147(6), 217-224.