Pediatric Neurology
Volume 26, Issue 3 , Pages 205-209 , March 2002

Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome

  • Pek-Lan Khong, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Khong; Department of Diagnostic Radiology; Queen Mary Hospital; The University of Hong Kong; 102, Pokfulam Road; Hong Kong
    • Department of Diagnostic Radiology, Queen Mary Hospital; the University of Hong Kong; Hong Kong
    • ,
  • Ching-Wan Lam, MD, PhD

      Affiliations

    • Department of Chemical Pathology; Prince of Wales Hospital; The Chinese University of Hong Kong
    • ,
  • Clara G.C Ooi, MD

      Affiliations

    • Department of Diagnostic Radiology, Queen Mary Hospital; the University of Hong Kong; Hong Kong
    • ,
  • Chun-Hung Ko, MD

      Affiliations

    • Department of Pediatrics; Caritas Medical Center; Hong Kong
    • ,
  • Virginia C.N Wong, MD

      Affiliations

    • Department of Pediatrics; Queen Mary Hospital; the University of Hong Kong; Hong Kong

Received 10 July 2001 ,Accepted 1 October 2001.

References 

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  2. Amir RE, Zoghbi HY. Rett syndrome (Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations). Am J Med Genet. 2000;97:147–152
  3. Bauman ML, Kemper TL, Arin DM. Microscopic observations of the brain in Rett syndrome. Neuropediatrics. 1995;26:105–108
  4. Horská A, Naidu S, Herskovits EH, Wang PY, Kaufmann WE, Barker PB. Quantitative 1H MR spectroscopic imaging in early Rett syndrome. Neurology. 2000;54:715–722
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  7. Brockmann K, Holzbach U, Kruse B, et al.  Localized proton magnetic resonance spectroscopy (MRS) of the brain in Rett syndrome. Eur Child Adolesc Psychiatry. 1997;6(Suppl 1):67
  8. Hanefeld F, Christen HJ, Holzbach U, Kruse B, Frahm J, Hänicke W. Cerebral proton magnetic resonance spectroscopy in Rett syndrome. Neuropediatrics. 1995;26:126–127
  9. Nielsen JB, Toft PB, Reske-Nielsen E, et al.  Cerebral magnetic resonance spectroscopy in Rett syndrome. Brain Dev. 1993;15:107–112
  10. Rett Syndrome Diagnostic Criteria Work Group . Diagnostic criteria for Rett syndrome. Ann Neurol. 1988;23:425–428
  11. Hagberg B, Witt-Engerstrom I. Rett syndrome (A suggested staging system for describing impairment profile with increasing age towards adolescence). Am J Med Genet Suppl. 1986;1:47–59
  12. Murakami JW, Courchesne E, Haas RH, Press GA, Yeung-Courchesne R. Cerebellar and cerebral abnormalities in Rett syndrome (A quantitative MR analysis). Am J Roentgenol. 1992;159:177–183
  13. Nihei K, Naitoh H. Cranial computed tomographic and magnetic resonance imaging studies on the Rett syndrome. Brain Dev. 1990;12:101–105
  14. Reiss AL, Faruque F, Naidu S, et al.  Neuroanatomy of Rett syndrome (A volumetric imaging study). Ann Neurol. 1993;34:227–234
  15. Nielsen JB, Friberg L, Lou H, Lassen NA, Sam ILK. Immature pattern of brain activity in Rett syndrome. Arch Neurol. 1990;47:982–986
  16. Armstrong D, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropathol Exp Neurol. 1995;54:195–201
  17. Amir RE, Van den Veyver IB, Schultz R, et al.  Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000;47:670–679
  18. Cheadle JP, Gill H, Fleming N, et al.  Long-read sequence analysis of the MECP2 gene in Rett syndrome patients (Correlation of disease severity with mutation type and location). Hum Mol Genet. 2000;9:1119–1129
  19. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome (Analysis of MECP2 and clinical characterization of 31 patients). Hum Mol Genet. 2000;9:1369–1375

PII: S0887-8994(01)00385-X

Pediatric Neurology
Volume 26, Issue 3 , Pages 205-209 , March 2002

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