TY - JOUR
T1 - Adrenoleukodystrophy
T2 - studies of the phenotype, genetics and biochemistry
AU - Moser, H. W.
AU - Moser, A. B.
AU - Kawamura, N.
AU - Migeon, B.
AU - O'Neill, B. P.
AU - Fenselau, C.
AU - Kishimoto, Y.
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 1980
Y1 - 1980
N2 - 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.
AB - 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.
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M3 - Article
C2 - 7453002
AN - SCOPUS:0019149622
SN - 0021-7263
VL - 147
SP - 217
EP - 224
JO - Johns Hopkins Medical Journal
JF - Johns Hopkins Medical Journal
IS - 6
ER -