Adrenoleukodystrophy

studies of the phenotype, genetics and biochemistry

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

Research output: Chapter in Book/Report/Conference proceedingChapter

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)
Title of host publicationJohns Hopkins Medical Journal
Pages217-224
Number of pages8
Volume147
Edition6
StatePublished - 1980

Fingerprint

Adrenoleukodystrophy
Biochemistry
Phenotype
Fatty Acids
Adrenal Insufficiency
Diffuse Cerebral Sclerosis of Schilder
Skin Pigmentation
Leukoencephalopathies
Spinal Nerves
Monounsaturated Fatty Acids
Cholesterol Esters
Gangliosides
Adrenal Cortex
Inclusion Bodies
Brain
Demyelinating Diseases
Neurologic Manifestations
Nervous System Diseases
Peripheral Nerves
Muscle Cells

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

Adrenoleukodystrophy : studies of the phenotype, genetics and biochemistry. / Moser, H. W.; Moser, Ann B.; Kawamura, N.; Migeon, Barbara R; O'Neill, B. P.; Fenselau, C.; Kishimoto, Y.

Johns Hopkins Medical Journal. Vol. 147 6. ed. 1980. p. 217-224.

Research output: Chapter in Book/Report/Conference proceedingChapter

Moser, HW, Moser, AB, Kawamura, N, Migeon, BR, O'Neill, BP, Fenselau, C & Kishimoto, Y 1980, Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. in Johns Hopkins Medical Journal. 6 edn, vol. 147, pp. 217-224.
Moser HW, Moser AB, Kawamura N, Migeon BR, O'Neill BP, Fenselau C et al. Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. In Johns Hopkins Medical Journal. 6 ed. Vol. 147. 1980. p. 217-224
Moser, H. W. ; Moser, Ann B. ; Kawamura, N. ; Migeon, Barbara R ; O'Neill, B. P. ; Fenselau, C. ; Kishimoto, Y. / Adrenoleukodystrophy : studies of the phenotype, genetics and biochemistry. Johns Hopkins Medical Journal. Vol. 147 6. ed. 1980. pp. 217-224
@inbook{e8297dbaef344f75a1f3888ba9667f98,
title = "Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry",
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.",
author = "Moser, {H. W.} and Moser, {Ann B.} and N. Kawamura and Migeon, {Barbara R} and O'Neill, {B. P.} and C. Fenselau and Y. Kishimoto",
year = "1980",
language = "English (US)",
volume = "147",
pages = "217--224",
booktitle = "Johns Hopkins Medical Journal",
edition = "6",

}

TY - CHAP

T1 - Adrenoleukodystrophy

T2 - studies of the phenotype, genetics and biochemistry

AU - Moser, H. W.

AU - Moser, Ann B.

AU - Kawamura, N.

AU - Migeon, Barbara R

AU - O'Neill, B. P.

AU - Fenselau, C.

AU - Kishimoto, Y.

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.

UR - http://www.scopus.com/inward/record.url?scp=0019149622&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0019149622&partnerID=8YFLogxK

M3 - Chapter

VL - 147

SP - 217

EP - 224

BT - Johns Hopkins Medical Journal

ER -