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Adrenoleukodystrophy: A Clinical, Pathological and Biochemical Study

  • H. H. Schaumburg
  • J. M. Powers
  • C. S. Raine
  • A. B. Johnson
  • E. H. Kolodny
  • Y. Kishimoto
  • M. Igarashi
  • K. Suzuki
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)

Abstract

The association of diffuse cerebral demyelination and adrenal disease was first adequately described by Siemerling and Creutzfeldt in 1923 (13). The report of Siemerling and Creutzfeldt was followed by similar isolated case studies. Despite the startling nature of these reports, the association of adrenal atrophy and cerebral demyelination was considered coincidental, and these cases were usually described as melanodermic leukodystrophy or brown Schilder’s disease. The studies of Gagnon and Leblanc in 1959 (4), Hoefnagel et al. in 1962 (5) and especially Fanconi et al. in 1963 (3) established this combination of neurologic and endocrine abnormalities as a hereditary disease, probably with a sex-linked recessive transmission. Since that time there have been at least 40 well-documented cases. Blaw, in 1971, introduced the term adrenoleukodystrophy (ALD) to describe this condition (1). Our identification, in 1972 of specific light microscopic cytoplasmic changes in the adrenal cortical cells of nine males diagnosed as having Schilder’s disease (10), and the subsequent ultrastructural characterization of the inclusions (7), led to the recognition of similar abnormal inclusions in Schwann cells, testis, and brain (8, 11, 12).

Keywords

Schwann Cell Cholesterol Ester Adrenal Cortical Cell Lipid Storage Disease Fatty Acid Abnormality 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • H. H. Schaumburg
    • 1
    • 2
  • J. M. Powers
    • 4
  • C. S. Raine
    • 2
    • 3
  • A. B. Johnson
    • 2
    • 3
  • E. H. Kolodny
    • 5
  • Y. Kishimoto
    • 5
  • M. Igarashi
    • 1
    • 3
  • K. Suzuki
    • 1
    • 3
  1. 1.The Saul R. Korey Department of NeurologyAlbert Einstein College of MedicineBronxUSA
  2. 2.Department of PathologyAlbert Einstein College of MedicineBronxUSA
  3. 3.The Rose F. Kennedy Center for Research in Mental Retardation and Human DevelopmentAlbert Einstein College of MedicineBronxUSA
  4. 4.Department of PathologyMedical University of South CarolinaCharlestonUSA
  5. 5.The Eunice Kennedy Shriver Center for Mental RetardationWalthamUSA

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