FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 313:921-924 October 10, 1985 Number 15 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Abstract

The Rett syndrome is a progressive disorder in female patients that is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. The results of laboratory investigations are usually normal, with the exception of electroencephalography. In an attempt to understand the pathogenesis of this syndrome, we assayed biogenic amine metabolites in the cerebrospinal fluid of six patients, 2 to 15 years of age. 3-Methoxy-4-hydroxyphenylethylene glycol (MHPG, a metabolite of norepinephrine), homovanillic acid (a metabolite of dopamine), and 5-hydroxyindoleacetic acid (5-HIAA, a metabolite of serotonin) were quantitated by a method involving gas chromatography and mass spectrometry. Levels of MHPG and homovanillic acid were significantly reduced in all the patients as compared with those in controls of similar age (P = 0.01 and 0.008, respectively). The reduction in the level of 5-HIAA was not significantly different from that in the controls (P = 0.15). These findings suggest an underlying disorder of biogenic amines in the Rett syndrome and may provide new insight into its pathogenesis.

This article has been cited by other articles:

• Nuzzo, R. (2006). Profile of Huda Y. Zoghbi. Proc. Natl. Acad. Sci. USA 103: 3017-3019 [Full Text]  
• Duncan Armstrong, D. (2005). Neuropathology of Rett Syndrome. J Child Neurol 20: 747-753 [Abstract]  
• Armstrong, D. D. (2005). Neuropathology of Rett Syndrome. J Child Neurol 20: 747-753 [Abstract]  
• Cornford, M. E., Philippart, M., Jacobs, B., Scheibel, A. B., Vinters, H. V. (1994). Neuropathology of Rett Syndrome: Case Report With Neuronal and Mitochondrial Abnormalities in the Brain. J Child Neurol 9: 424-431 [Abstract]  
• Yoshikawa, H., Fueki, N., Suzuki, H., Sakuragawa, N., Masaaki, I. (1991). Cerebral Blood Flow and Oxygen Metabolism in Rett Syndrome. J Child Neurol 6: 237-242 [Abstract]  
• Burd, L., Gascon, G. G. (1988). Rett Syndrome: Review and Discussion of Current Diagnostic Criteria. J Child Neurol 3: 263-268 [Abstract]  
• Trevathan, E., Naidu, S. (1988). The Clinical Recognition and Differential Diagnosis of Rett Syndrome. J Child Neurol 3: S6-S16 [Abstract]  
• Haas, R. H., Love, S. (1988). Peripheral Nerve Findings in Rett Syndrome. J Child Neurol 3: S25-S30 [Abstract]  
• Percy, A. K. (1988). Research in Rett Syndrome: Past, Present, and Future. J Child Neurol 3: S72-S75 [Abstract]  
• Naidu, S., Kitt, C. A., Wong, D. F., Price, D. L., Troncoso, J. C., Moser, H. W. (1988). Research on Rett Syndrome: Strategy and Preliminar Results. J Child Neurol 3: S78-S86 [Abstract]  
• Glaze, D. G., Frost, J. D. Jr, Zoghbi, H. Y., Percy, A. K. (1987). Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging. Arch Neurol 44: 1053-1056 [Abstract]  
• Al-Mateen, M., Philippart, M., Shields, W. D. (1986). Rett Syndrome: A Commonly Overlooked Progressive Encephalopathy in Girls. Arch Pediatr Adolesc Med 140: 761-765 [Abstract]