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 pattern was explained by Fanconi et al in 1963. Previously It was known as Schilder's disease but Michael Blaw changed it to "Adrenoleukodystrophy" in 1970.
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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