TY - JOUR
T1 - Adrenoleukodystrophy
T2 - Molecular Genetics, Pathology, and Lorenzo's oil
AU - Moser, Hugo W.
AU - Powers, James M.
AU - Smith, Kirby D.
PY - 1995/7
Y1 - 1995/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0029088558&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029088558&partnerID=8YFLogxK
U2 - 10.1111/j.1750-3639.1995.tb00602.x
DO - 10.1111/j.1750-3639.1995.tb00602.x
M3 - Article
C2 - 8520725
AN - SCOPUS:0029088558
SN - 1015-6305
VL - 5
SP - 259
EP - 266
JO - Brain Pathology
JF - Brain Pathology
IS - 3
ER -