Adrenoleukodystrophy historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Adrenoleukodystrophy was first described by Siemerling and Creutzfeld in 1923. The X-linked recessive inheritance phenomenon was clarified in 1963 by Fanconi et al. This was previously known as Schilder 's syndrome, but in 1970 Michael Blaw renamed it to "Adrenoleukodystrophy." Fanconi et al . discovered the X-linked recessive inheritance in 1963. In 1976, Igarashi et al identified the aggregation of concentrated, very long chain fatty acids (VLCFAs) in brain and adrenal tissue. In 1986, Lazo et al. indicated that incomplete oxidation of fatty acids is due to the deficiency of the peroxisome matrix enzyme lignoceroyl-CoA synthetase. Mosser et al. isolated the ALD gene in 1993.
Historical Perspective[1][[#cite_note-G�rtner2000-2|[2]]]
- Initially it was described in germany by Siemerling and Creutzfeld in 1923. They called it Bronzekrankheitund Sklerosierende Encephalitis.
- Later on, it was designated as Schilder’s disease. But It was changed to "Adrenoleukodystrophy" by Michael Blaw in 1970.
- The X-linked recessive inheritance was revealed by Fanconi et al in 1963.
- In 1976, Igarashi et al described the accumulation of saturated very long chain fatty acids (VLCFAs) in brain and adrenal tissues.
- In 1986, Lazo et al. suggested that the impaired fatty acid oxidation is due to deficient function of the peroxisomal matrix enzyme lignoceroyl-CoA synthetase.
- In 1993, Mosser et al. isolated the ALD gene.
References
- ↑ Moser HW, Raymond GV, Dubey P (2005). "Adrenoleukodystrophy: new approaches to a neurodegenerative disease". JAMA. 294 (24): 3131–4. doi:10.1001/jama.294.24.3131. PMID 16380594.
- [[#cite_ref-G�rtner2000_2-0|↑]] G�rtner, J. (2000). "X-Linked Adrenoleukodystrophy". 2: 134–149. doi:10.1159/000060840. replacement character in
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