White-matter disease in 18q deletion (18q−) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination

@article{Husler2004WhitematterDI,
  title={White-matter disease in 18q deletion (18q−) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination},
  author={Martin H{\"a}usler and Dirk Anhuf and Herdit Sch{\"u}ler and Vincent Th Ramaekers and Armin Thron and Klaus Zerres and Walter Moeller-Hartmann},
  journal={Neuroradiology},
  year={2004},
  volume={47},
  pages={83-86}
}
Proton magnetic resonance spectroscopic data (1H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. 1H-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 α-glutamate concentrations. Eight months later, simultaneously with clinical improvement, α-glutamate had normalised whereas choline remained slightly increased. Active… CONTINUE READING

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