THE FRA(X) SYNDROME - NEUROLOGICAL, ELECTROPHYSIOLOGICAL, AND NEUROPATHOLOGICAL ABNORMALITIES
THE FRA(X) SYNDROME - NEUROLOGICAL, ELECTROPHYSIOLOGICAL, AND NEUROPATHOLOGICAL ABNORMALITIES
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DOI：
10.1002/ajmg.1320380267
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发表时间：
1991-02-01
期刊：
影响因子：
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通讯作者：
RUDELLI, RD
中科院分区：
文献类型：
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作者：
WISNIEWSKI, KE;SEGAN, SM;RUDELLI, RD
我们评估了62例脆性X综合征患者(男性55例，女性7例)，他们都有不同程度的发育障碍，临床表现为非进展性和非局灶性。55名男性的平均年龄为+/-14.3岁，范围为2-70岁；7名女性的平均年龄为15.7岁+/-3.5岁，范围为10-20岁。男性智力低下53例，轻度8/53(15.1%)，中度26/53(49.1%)，重度14/53(26.4%)，重度5/53(9.4%)。男性中有2/55(3.6%)存在学习障碍。7名女性中，1名为轻度MR，1名为中度MR，其余5名为学习障碍。自闭症患者中有10/62(16%)出现自闭性斑点。仅有14/62(23%)有惊厥病史，均经抗惊厥药物控制。62例中有36例进行了脑电检查。我们将这些数据与其他数据进行了比较。12例行脑干听觉诱发反应(BAER)检查。有21/62(34%)的患者接受了神经影像和头颅CT扫描。这21项研究中只有8项(38%)是异常的。一名患者死亡；神经病理学检查显示轻度脑萎缩，并有光镜和超微结构异常。快速高尔基树突模式显示近端尖节段异常发育。脊椎细长曲折，末端突出，膨大不规则。突触长度显著缩短，如EPTA后固定组织所示。平均突触接触面积比对照组观察到的正常长度短35%。综上所述，神经系统的异常主要表现在认知功能上，癫痫的表现与良性的年龄相关性癫痫相似，而神经病理的异常则出现在中枢系统，表现为突触发育异常。
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-progressive and non-focal in character. The mean age for the 55 males was 23.1 years +/- 14.3 SD with a range of 2-70: for the 7 females, the mean age was 15.7 years +/- 3.5 SD with a range of 10-20 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 anti-convulsants. 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-postfixed 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-related epilepsies, whereas the neuropathological abnormalities are in the wiring system, showing synaptic dysgenesis.