Adrenoleukodystrophy historical perspective: Difference between revisions
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Ibtisamshrf (talk | contribs) /* Historical Perspective{{cite journal| author=Moser HW, Raymond GV, Dubey P| title=Adrenoleukodystrophy: new approaches to a neurodegenerative disease. | journal=JAMA | year= 2005 | volume= 294 | issue= 24 | pages= 3131-4 | pmid=16380594 | doi=10.100... |
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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. | 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<ref name="pmid16380594">{{cite journal| author=Moser HW, Raymond GV, Dubey P| title=Adrenoleukodystrophy: new approaches to a neurodegenerative disease. | journal=JAMA | year= 2005 | volume= 294 | issue= 24 | pages= 3131-4 | pmid=16380594 | doi=10.1001/jama.294.24.3131 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16380594 }} </ref>== | ==Historical Perspective<ref name="pmid16380594">{{cite journal| author=Moser HW, Raymond GV, Dubey P| title=Adrenoleukodystrophy: new approaches to a neurodegenerative disease. | journal=JAMA | year= 2005 | volume= 294 | issue= 24 | pages= 3131-4 | pmid=16380594 | doi=10.1001/jama.294.24.3131 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16380594 }} </ref><ref name="G�rtner2000">{{cite journal|last1=G�rtner|first1=J.|title=X-Linked Adrenoleukodystrophy|volume=2|year=2000|pages=134–149|doi=10.1159/000060840}}</ref>== | ||
*Initially it was described in germany by Siemerling and Creutzfeld in 1923. They called it Bronzekrankheitund Sklerosierende Encephalitis. | *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. | *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. | *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 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== | ==References== | ||
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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
|last1=at position 2 (help)