Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil

Hugo W. Moser, James M. Powers, Kirby D. Smith

Research output: Contribution to journalArticle

Abstract

Knowledge about adrenoleukodystrophy (ALD), a disorder which was described first in 1923, has increased greatly during recent years. The principal biochemical abnormality, the presumed enzyme defect, and the gene defect, have been defined. A dietary therapy has been proposed and attracted world‐wide attention through a motion picture. Nevertheless, many questions remain and cannot be answered without a more fundamental understanding of pathology and pathogenesis. This article will provide a review of the history, clinical features, pathology, biochemistry, and the gene defect, and then appraise current efforts to clarify pathogenesis and develop therapeutic approaches.

Original languageEnglish (US)
Pages (from-to)259-266
Number of pages8
JournalBrain Pathology
Volume5
Issue number3
DOIs
StatePublished - Jul 1995

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

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