The adrenoleukodystrophies.

H. W. Moser, Sakkubai Naidu, A. J. Kumar, A. E. Rosenbaum

Research output: Contribution to journalArticle

Abstract

Clinical, biochemical, and genetic studies of adrenoleukodystrophy (ALD) are of current interest for six main reasons. First, assays of plasma lipids or cultured skin fibroblasts or amniocytes permit precise diagnosis of persons affected by the disease, as well as prenatal diagnosis and carrier detection. Second, the general nature of the enzymatic defect has been identified and the ALD gene has been mapped to the q28 segment of the X-chromosome. Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a chronic progressive paraparesis in young, middle-aged, or even older adults. The latter syndrome is referred to as adrenomyeloneuropathy (AMN). It is of particular interest that these variants occur regularly within the same kindred, so that the phenotypic variation cannot be attributed to different genetic mutations. A fifth feature of interest is that in this X-linked disorder 12 to 40% of female carriers show various degrees of neurological disability, although almost always milder than in the hemizygous male. Studies with cultured fibroblasts suggest that mutant ALD cell lines have a competitive advantage over normal cell lines, a phenomenon which has not been observed in any other disorder. Finally, ALD appears to be one example of a peroxisomal disorder. Knowledge about the normal function of this subcellular organelle has emerged only recently, and further studies of ALD and related disorders will contribute to this.

Original languageEnglish (US)
Pages (from-to)29-88
Number of pages60
JournalCritical Reviews in Neurobiology
Volume3
Issue number1
StatePublished - 1987
Externally publishedYes

Fingerprint

Adrenoleukodystrophy
Fibroblasts
Peroxisomal Disorders
Paraparesis
Cell Line
X Chromosome
Nervous System Diseases
Prenatal Diagnosis
Organelles
Molecular Biology
Lipids
Skin
Mutation
Genes

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Moser, H. W., Naidu, S., Kumar, A. J., & Rosenbaum, A. E. (1987). The adrenoleukodystrophies. Critical Reviews in Neurobiology, 3(1), 29-88.

The adrenoleukodystrophies. / Moser, H. W.; Naidu, Sakkubai; Kumar, A. J.; Rosenbaum, A. E.

In: Critical Reviews in Neurobiology, Vol. 3, No. 1, 1987, p. 29-88.

Research output: Contribution to journalArticle

Moser, HW, Naidu, S, Kumar, AJ & Rosenbaum, AE 1987, 'The adrenoleukodystrophies.', Critical Reviews in Neurobiology, vol. 3, no. 1, pp. 29-88.
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. The adrenoleukodystrophies. Critical Reviews in Neurobiology. 1987;3(1):29-88.
Moser, H. W. ; Naidu, Sakkubai ; Kumar, A. J. ; Rosenbaum, A. E. / The adrenoleukodystrophies. In: Critical Reviews in Neurobiology. 1987 ; Vol. 3, No. 1. pp. 29-88.
@article{9e2b3b22c2ae4cbcb12cd73abb593cf9,
title = "The adrenoleukodystrophies.",
abstract = "Clinical, biochemical, and genetic studies of adrenoleukodystrophy (ALD) are of current interest for six main reasons. First, assays of plasma lipids or cultured skin fibroblasts or amniocytes permit precise diagnosis of persons affected by the disease, as well as prenatal diagnosis and carrier detection. Second, the general nature of the enzymatic defect has been identified and the ALD gene has been mapped to the q28 segment of the X-chromosome. Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a chronic progressive paraparesis in young, middle-aged, or even older adults. The latter syndrome is referred to as adrenomyeloneuropathy (AMN). It is of particular interest that these variants occur regularly within the same kindred, so that the phenotypic variation cannot be attributed to different genetic mutations. A fifth feature of interest is that in this X-linked disorder 12 to 40{\%} of female carriers show various degrees of neurological disability, although almost always milder than in the hemizygous male. Studies with cultured fibroblasts suggest that mutant ALD cell lines have a competitive advantage over normal cell lines, a phenomenon which has not been observed in any other disorder. Finally, ALD appears to be one example of a peroxisomal disorder. Knowledge about the normal function of this subcellular organelle has emerged only recently, and further studies of ALD and related disorders will contribute to this.",
author = "Moser, {H. W.} and Sakkubai Naidu and Kumar, {A. J.} and Rosenbaum, {A. E.}",
year = "1987",
language = "English (US)",
volume = "3",
pages = "29--88",
journal = "Critical Reviews in Neurobiology",
issn = "0892-0915",
publisher = "Begell House Inc.",
number = "1",

}

TY - JOUR

T1 - The adrenoleukodystrophies.

AU - Moser, H. W.

AU - Naidu, Sakkubai

AU - Kumar, A. J.

AU - Rosenbaum, A. E.

PY - 1987

Y1 - 1987

N2 - Clinical, biochemical, and genetic studies of adrenoleukodystrophy (ALD) are of current interest for six main reasons. First, assays of plasma lipids or cultured skin fibroblasts or amniocytes permit precise diagnosis of persons affected by the disease, as well as prenatal diagnosis and carrier detection. Second, the general nature of the enzymatic defect has been identified and the ALD gene has been mapped to the q28 segment of the X-chromosome. Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a chronic progressive paraparesis in young, middle-aged, or even older adults. The latter syndrome is referred to as adrenomyeloneuropathy (AMN). It is of particular interest that these variants occur regularly within the same kindred, so that the phenotypic variation cannot be attributed to different genetic mutations. A fifth feature of interest is that in this X-linked disorder 12 to 40% of female carriers show various degrees of neurological disability, although almost always milder than in the hemizygous male. Studies with cultured fibroblasts suggest that mutant ALD cell lines have a competitive advantage over normal cell lines, a phenomenon which has not been observed in any other disorder. Finally, ALD appears to be one example of a peroxisomal disorder. Knowledge about the normal function of this subcellular organelle has emerged only recently, and further studies of ALD and related disorders will contribute to this.

AB - Clinical, biochemical, and genetic studies of adrenoleukodystrophy (ALD) are of current interest for six main reasons. First, assays of plasma lipids or cultured skin fibroblasts or amniocytes permit precise diagnosis of persons affected by the disease, as well as prenatal diagnosis and carrier detection. Second, the general nature of the enzymatic defect has been identified and the ALD gene has been mapped to the q28 segment of the X-chromosome. Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a chronic progressive paraparesis in young, middle-aged, or even older adults. The latter syndrome is referred to as adrenomyeloneuropathy (AMN). It is of particular interest that these variants occur regularly within the same kindred, so that the phenotypic variation cannot be attributed to different genetic mutations. A fifth feature of interest is that in this X-linked disorder 12 to 40% of female carriers show various degrees of neurological disability, although almost always milder than in the hemizygous male. Studies with cultured fibroblasts suggest that mutant ALD cell lines have a competitive advantage over normal cell lines, a phenomenon which has not been observed in any other disorder. Finally, ALD appears to be one example of a peroxisomal disorder. Knowledge about the normal function of this subcellular organelle has emerged only recently, and further studies of ALD and related disorders will contribute to this.

UR - http://www.scopus.com/inward/record.url?scp=0023078075&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023078075&partnerID=8YFLogxK

M3 - Article

C2 - 3552451

AN - SCOPUS:0023078075

VL - 3

SP - 29

EP - 88

JO - Critical Reviews in Neurobiology

JF - Critical Reviews in Neurobiology

SN - 0892-0915

IS - 1

ER -