Open AccessAdrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil
Author(s) -
Moser Hugo W.,
Powers James M.,
Smith Kirby D.
Publication year - 1995
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.1995.tb00602.x
Subject(s) - adrenoleukodystrophy , molecular pathology , biology , medical genetics , pathology , genetics , medicine , gene , peroxisome
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.