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Cited by 259

The DOI matches its Crossref record; 94 of the 94 references it cites were found in a registry or an index.

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Moser, Hugo W., Moser, Ann E., Singh, Inderjit, O'Neill, P.·1984·Annals of Neurology
DOI 10.1002/ana.410160603
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Abstract

Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency. All affected persons show increased levels of saturated unbranched very‐long‐chain fatty acids, particularly hexacosanoate (C26:0), because of impaired capacity to degrade these acids. This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellweger's cerebrohepatorenal syndrome, is now considered to belong to the newly formed category of peroxisomal disorders. Biochemical assays permit prenatal diagnosis, as well as identification of most heterozygotes. We have identified 303 patients with ALD in 217 kindreds. These patients show a wide phenotypic variation. Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X‐linked, with the gene mapped to Xq28. Neonatal ALD, a distinct entity with autosomal recessive inheritance and points of resemblance to Zellweger's syndrome, accounted for 7% of the cases. Although excess C26:0 in the brain of patients with ALD is partially of dietary origin, dietary C26:0 restriction did not produce clear benefit. Bone marrow transplant lowered the plasma C26:0 level but failed to arrest neurological progression.

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Show all 94 references

Research works printed but not linked: 14

  1. Aubourg P, 1982, Adrenoleucodystrophie chez l'enfant: à propos de 20 observations, Arch Fr Pediatr, 39, 663
  2. Blaw ME, 1970, Handbook of Clinical Neurology, 128
  3. Farrell K, 1983, Peroxisomal Abnormalities in neonatal adrenoleukodystrophy, Ann Neurol, 14, 380
  4. McKusick VA, 1983, Mendelian Inheritance in Man: Catalog of Autosomal Dominant, Autosomal Recessive and X‐linked Phenotypes
  5. 10.1203/00006450-198014010-00006 · DOI
  6. Morariu MA, 1982, Adrenoleukodystrophy variant in a heterozygous female, Neurology (NY), 32, A81
  7. Moser HW, 1983, Adrenoleukodystrophy: origin of very long chain fatty acids and therapy, Pediatr Res, 17, 293a
  8. Murphy JV, 1982, Treatment of adrenoleukodystrophy by diet and plasmapheresis, Ann Neurol, 12, 220
  9. Noetzel MJ, 1983, Neonatal adrenoleukodystrophy with prolonged survival, Ann Neurol, 14, 380
  10. Ohno T, 1983, Adrenoleukodystrophy: new clinical variant presenting as olivopontocerebellar atrophy, Ann Neurol, 14, 147
  11. 10.1212/WNL.33.9.1203 · DOI
  12. O'Neill BP, 1984, Brainstem auditory evoked potentials in adrenoleukodystrophy carriers, Neurology (Cleveland), 34, 163
  13. Partin JC, 1983, Absence of hepatic peroxisomes in neonatal onset adrenoleukodystrophy, Pediatr Res, 17, 294A
  14. 10.1016/S0140-6736(82)91235-1 · doi:10.1016/s0140-6736(82)91235-1

Cited by

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Metadata

Authors
Moser, H. W., Moser, A. E., Singh, I., & O'Neill, P.
Venue
Annals of Neurology
Publisher
Wiley
Published
1984-12
Volume
16
Issue
6
Pages
628-641
ISSN
  • 0364-5134 (ISSN-L)
  • 1531-8249
DOI
10.1002/ana.410160603
OpenAlex
W1996130912
Cited by
259
References
94
FWCI
17.89
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 7259 d)

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CoChat. (2026). Citation check: Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy. https://app.cochat.ai/papers/10.1002/ana.410160603
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Moser, H. W., Moser, A. E., Singh, I., & O'Neill, P. (1984). Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy. Annals of Neurology. https://doi.org/10.1002/ana.410160603

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