Article (Scientific journals)
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
Hausler, M.; Anhuf, D.; Schuler, H. et al.
2005In Neuroradiology, 47 (1), p. 83-6
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Keywords :
Aspartic Acid/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
Abstract :
[en] 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.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Hausler, M.;  University Hospital of Aachen, Germany > Pediatrics
Anhuf, D.;  University Hospital of Aachen, Germany > Human Genetics
Schuler, H.;  University Hospital of Aachen, Germany > Human Genetics
Ramaekers, Vincent ;  University Hospital of Aachen, Germany > Pediatrics
Thron, A.;  University Hospital of Aachen, Germany > Neuroradiology
Zerres, K.;  University Hospital of Aachen, Germany > Human Genetics
Moller-Hartmann, W.;  University Hospital of Aachen, Germany > Neuroradiology
Language :
English
Title :
White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
Publication date :
January 2005
Journal title :
Neuroradiology
ISSN :
0028-3940
eISSN :
1432-1920
Publisher :
Springer, Germany
Volume :
47
Issue :
1
Pages :
83-6
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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