Musumeci S A, Scuderi C, Ferri R, Anello G, Salluzzo R, Bosco P, Elia M
Oasi Institute for Research on Mental Retardation and Brain Aging, Via Conte Ruggero, 73, 94018, Troina, Italy.
Clin Neurophysiol. 2000 Sep;111(9):1632-6. doi: 10.1016/s1388-2457(00)00367-9.
FRAXE mental retardation, a recently identified rare genetic condition, is due to a mutation of the FMR2 gene, located at Xq28 region. The phenotype is non-specific and characterized by developmental delay, speech, reading and writing problems, poor adaptive skills, anxiety, aggressiveness, obsessive-compulsive disturbance, and hyperactivity. The objective of this study was to describe the characteristic EEG pattern found in one patient with FRAXE mental retardation.
EEG (with photic stimulation and hand/foot tapping) and median nerve somatosensory evoked potentials were recorded in a 8-year-old male patient with FRAXE mental retardation (diagnosis confirmed by molecular genetic analysis) and speech disturbances.
The patient never presented seizures; however, sleep enhanced multifocal spikes were found in the EEG. Moreover, tactile stimulation of hands and feet, as well as intermittent photic stimulation, provoked the appearance of spikes. Somatosensory evoked potentials from the median nerves showed a 'giant' component at around 60 ms.
Considering the rarity of both FRAXE mental retardation and tactile evoked spikes, their association in the same subject might be considered as not casual. If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation.
FRAXE智力障碍是一种最近发现的罕见遗传病，由位于Xq28区域的FMR2基因突变所致。其表型不具有特异性，特征为发育迟缓、言语、阅读和书写问题、适应能力差、焦虑、攻击性、强迫性障碍和多动。本研究的目的是描述一名FRAXE智力障碍患者的特征性脑电图模式。
对一名8岁患有FRAXE智力障碍（经分子遗传学分析确诊）且有言语障碍的男性患者进行脑电图（包括光刺激和手/足轻拍）及正中神经体感诱发电位记录。
该患者从未出现癫痫发作；然而，脑电图中发现睡眠增强型多灶性棘波。此外，对手和脚的触觉刺激以及间歇性光刺激会诱发棘波出现。正中神经体感诱发电位在约60毫秒处显示出一个“巨大”成分。
鉴于FRAXE智力障碍和触觉诱发棘波均很罕见，它们在同一受试者中的关联可能并非偶然。如果未来研究予以证实，这些神经生理学发现可能被视为FRAXE智力障碍的一个标志物。
