| Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder. | |
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MedLine Citation:
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PMID: 8213073 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described previously by Gullotta et al. [Neuropädiatrie (1970) 2: 173-186]. Increased VLCFA in brain clearly demonstrate that the patient had suffered from a peroxisomal disease. This diagnosis is corroborated by ultrastructural findings in brain showing typical lamellar inclusions. The particular type of peroxisomal disorder present in case (heterozygote of X-linked adrenoleukodystrophy?) remains speculative. |
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Authors:
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B Molzer; F Gullotta; K Harzer; A Poulos; H Bernheimer |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Acta neuropathologica Volume: 86 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 1993 |
Date Detail:
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Created Date: 1993-11-23 Completed Date: 1993-11-23 Revised Date: 2007-11-09 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 187-9 Citation Subset: IM |
Affiliation:
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Neurological Institute, University of Vienna, Austria. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenoleukodystrophy
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genetics,
pathology* Aged Aged, 80 and over Brain / pathology* Brain Chemistry / physiology Cholesterol Esters / metabolism Fatty Acids / analysis, metabolism* Humans Microbodies / ultrastructure* Phytanic Acid / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Cholesterol Esters; 0/Fatty Acids; 14721-66-5/Phytanic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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