{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:13:57Z","timestamp":1791036837376,"version":"4.1.0"},"reference-count":78,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,5,30]],"date-time":"2002-05-30T00:00:00Z","timestamp":1022716800000},"content-version":"vor","delay-in-days":149,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ment. Retard. Dev. Disabil. Res. Rev."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett Syndrome is unlike any other pediatric neurologic disease, and its clinical\u2010pathologic correlation can not be defined with standard histology techniques. Based on hypotheses suggested by careful clinical observations, the nervous system of the Rett child has been explored utilizing morphometry, golgi preparations, computerized tomography, magnetic resonance imaging, chemistry, immunocytochemistry, autoradiography, and molecular biologic techniques. From these many perspectives we conclude that Rett syndrome is not a typical degenerative disorder, storage disorder, nor the result of gross malformation, infectious or neoplastic processes. There remain regions of the brain that have not been studied in detail but the available data suggest that the neuropathology of Rett syndrome can be summarized as follows: the Rett brain is small for the<jats:italic>age<\/jats:italic>and the<jats:italic>height<\/jats:italic>of the patient; it does not become progressively smaller over three to four decades; it has small dendritic trees in pyramidal neurons of layers III and V in selected lobes (frontal, motor, and temporal); it has small neurons with an increased neuronal packing density; it has an immature expression of microtubular protein\u20102 and cyclooxygenase; it exhibits a changing pattern of neurotransmitter receptors with an apparent reduction in many neurotransmitters, possibly contributing to some symptomatology. A mutation in<jats:italic>Mecp2<\/jats:italic>causes this unique disorder of brain development. Neuronal mosaicism for normal and mutated<jats:italic>Mecp2<\/jats:italic>produces a consistent phenotype in the classic female patient and a small brain with some preserved islands of function, but with an inability to support hand use and speech. This paper summarizes our current observations about neuropathology of Rett syndrome. MRDD Research Reviews 2002;8:72\u201376. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/mrdd.10027","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:27:22Z","timestamp":1033907242000},"page":"72-76","source":"Crossref","is-referenced-by-count":93,"title":["Neuropathology of Rett syndrome"],"prefix":"10.1002","volume":"8","author":[{"given":"Dawna Duncan","family":"Armstrong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199503000-00006"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1093\/oso\/9780192630834.003.0003","volume-title":"Rett disorder and the developing brain","author":"Armstrong DD","year":"2001"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199811000-00003"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00124-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.8.1581"},{"key":"e_1_2_1_8_1","first-page":"105","article-title":"Microscopic observations of the brain in Rett syndrome","volume":"26","author":"Bauman ML","year":"1995","journal-title":"Neuro Pediatrics"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1093\/oso\/9780192630834.003.0011","volume-title":"Rett disorder and the developing brain","author":"Belichenko PV","year":"2001"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-0270(94)00125-Z"},{"key":"e_1_2_1_11_1","first-page":"51","volume-title":"Morphologic studies of neocortical areas and basal ganglia in Rett syndrome","author":"Belichenko PV","year":"1996"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199904)45:4<541::AID-ANA21>3.0.CO;2-2"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02098506"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80183-5"},{"key":"e_1_2_1_15_1","first-page":"66","article-title":"Quantitative magnetic resonance imaging in Rett syndrome","volume":"3","author":"Casanova MF","year":"1991","journal-title":"J Neurophysiol"},{"key":"e_1_2_1_16_1","first-page":"81","article-title":"Male Rett variant","volume":"26","author":"Christen HHD","year":"1995","journal-title":"Neuro Pediatrics"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000184309"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00120-X"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.5.470"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.2.293"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210410"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0013-4694(97)00084-9"},{"key":"e_1_2_1_23_1","first-page":"146","article-title":"Reduced heart rate variability in patients affected with Rett syndrome. 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