| White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination. | |
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MedLine Citation:
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PMID: 15645149 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Proton magnetic resonance spectroscopic data ((1)H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. (1)H-MR spectroscopy, performed in an affected 2-year-old girl with markedly delayed neuromotor development and typical supratentorial white-matter disease (WMD), showed an increase of choline and alpha-glutamate concentrations. Eight months later, simultaneously with clinical improvement, alpha-glutamate had normalised whereas choline remained slightly increased. Active demyelination or increased myelin turnover might contribute to the hitherto unexplained WMD of this rare disorder. |
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Authors:
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M Häusler; D Anhuf; H Schüler; V T Ramaekers; A Thron; K Zerres; W Möller-Hartmann |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2005-01-11 |
Journal Detail:
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Title: Neuroradiology Volume: 47 ISSN: 0028-3940 ISO Abbreviation: Neuroradiology Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2005-02-08 Completed Date: 2005-05-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 1302751 Medline TA: Neuroradiology Country: Germany |
Other Details:
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Languages: eng Pagination: 83-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University Hospital of Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany. haeusler@rwth-aachen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aspartic Acid
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analogs & derivatives*,
analysis Brain Diseases / metabolism* Choline / analysis Chromosome Deletion* Chromosomes, Human, Pair 18 / genetics* Demyelinating Diseases / diagnosis* Female Follow-Up Studies Glutamic Acid / analysis Humans Infant Inositol / analysis Magnetic Resonance Imaging Magnetic Resonance Spectroscopy / diagnostic use* Myelin Sheath / metabolism* |
| Chemical | |
Reg. No./Substance:
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56-84-8/Aspartic Acid; 56-86-0/Glutamic Acid; 62-49-7/Choline; 6917-35-7/Inositol; 997-55-7/N-acetylaspartate |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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