Related ArticlesMR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination.
Brain Dev. 2013 Jan 16;
Authors: Tada H, Takanashi JI
Abstract
We reported a 5-year-old boy with 18q(-) syndrome who showed typical magnetic resonance imaging (MRI) findings of high signal intensity on T2-weighted imaging, and a slightly high but lower than normal signal on T1-weighted imaging of the white matter. MR spectroscopy (MRS) revealed increased concentrations of creatine, myoinositol and choline with a normal N-acetylaspartate one. The cerebral white matter lesions observed on MRI in patients with 18q(-) syndrome have been considered to reflect hypomyelination due to a decrease in myelin basic protein so far, however, MRS suggested reactive astrocytic gliosis and accelerated myelin turnover, which are compatible with recent pathological reports of 18q(-) syndrome.
PMID: 23332863 [PubMed - as supplied by publisher]
[NMR paper] NMR assignments of the winged-helix domain of human werner syndrome protein.
NMR assignments of the winged-helix domain of human werner syndrome protein.
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J Biomol NMR. 2005 Jul;32(3):261
Authors: Sun JZ, Feng HQ, Lin GX, Zeng W, Hu JS