Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy.
Clinical Neurophysiology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy.
Cells. 2019 Jul 2;8(7):669. doi: 10.3390/cells8070669.
Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present study 15 patients from a personal cohort and 75 from 21 published studies carrying mutations in , and tubulin genes were evaluated with the aim to define a clinical and electrophysiological associated pattern. Epilepsy shows a wide range of severity without a specific pattern. Mutations in (60%) and (74%) and (25%) genes are associated with epilepsy. The accurate analysis of the Electroencephalogram (EEG) pattern in wakefulness and sleep in our series allows us to detect significant abnormalities of the background activity in 100% of patients. The involvement of white matter and of the inter-hemispheric connection structures typically observed in tubulinopathies is evidenced by the high percentage of asynchronisms in the organization of sleep activity recorded. In addition to asymmetries of the background activity, excess of slowing, low amplitude and Magnetic Resonance (MR) imaging confirm the presence of extensive brain malformations involving subcortical and midline structures. In conclusion, epilepsy in tubulinopathies when present has a favorable evolution over time suggesting a not particularly aggressive therapeutic approach.
微管蛋白基因突变可导致神经元迁移、组织、分化和轴突导向及维持异常，从而引起广泛的脑畸形。运动障碍、智力残疾和癫痫是主要的临床症状。本研究对 15 名来自个人队列的患者和 21 项已发表研究中的 75 名携带微管蛋白基因 、 和 突变的患者进行了评估，目的是确定一种临床和电生理相关的模式。癫痫表现出广泛的严重程度，没有特定的模式。 （60%）和 （74%）和 （25%）基因突变与癫痫有关。我们系列中清醒和睡眠时脑电图（EEG）模式的准确分析使我们能够检测到 100%患者的背景活动存在显著异常。在微管蛋白病中典型观察到的白质和半球间连接结构的受累，由记录的睡眠活动组织中的异步率高来证明。除了背景活动的不对称性、减速过多、低幅度和磁共振成像（MR）证实存在广泛的脑畸形，涉及皮质下和中线结构。总之，微管蛋白病中的癫痫如果存在，随着时间的推移具有有利的演变，提示治疗方法并非特别激进。
