{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T10:58:49Z","timestamp":1791111529718,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5240,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non\u2010progressive and non\u2010focal in character. The mean age for the 55 males was 23.1 years \u00b1 14.3 SD with a range of 2\u201370: for the 7 females, the mean age was 15.7 years \u00b1 3.5 SD with a range of 10\u201320 years. Mental retardation (MR) was found in 53 males (8\/53 [15.1%] mild, 26\/53 [49.1%] moderate, 14\/53 [26.4%] severe, and 5\/53 [9.4%] profound). Learning disabilities were found in 2\/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10\/62 (16%) of the patients. Only 14\/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36\/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5\/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21\/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA\u2010postfixed tissue where noted. The mean synaptic contact area was 35% shorter than the normal length observed in controls. In summary, the neurological abnormalities are mainly in the cognitive function, seizures appear similar to the benign age\u2010related epilepsies, whereas the neuropathological abnormalities are in the wiring system, showing synaptic dysgenesis.<\/jats:p>","DOI":"10.1002\/ajmg.1320380267","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:09:12Z","timestamp":1118549352000},"page":"476-480","source":"Crossref","is-referenced-by-count":208,"title":["The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities"],"prefix":"10.1002","volume":"38","author":[{"given":"K. E.","family":"Wisniewski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. M.","family":"Segan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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