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首页> 外文期刊>Archives of Neurology >Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development.
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Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development.

机译：遗传学和产前伤害的相互关系在皮质畸形的起源发展。

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CONTEXT: Although the causes of some malformations of cortical development (MCD) have been established, others remain unclear. There are several lines of evidence supporting the theory of a complex mechanism that involves genetic and environmental factors. OBJECTIVE: To investigate the interrelationship of genetics and prenatal injury in the genesis of MCD. PATIENTS AND DESIGN: A series of 76 consecutive patients with MCD and their families were systematically questioned about their family histories of epilepsy or other neurological impairment and the occurrence of prenatal events. Whenever possible, magnetic resonance imaging was performed in other family members if MCD was suspected or in the presence of any neurological impairment. Patients were divided into 3 groups according to the type of MCD. Patients in group 1 had focal cortical dysplasia, group 2 had heterotopias (periventricular or subcortical) or agyria-pachygyria, and group 3 had polymicrogyria or schizencephaly. These findings were also compared with a disease-control group of 40 consecutive patients with epilepsy but without MCD. SETTING: Neurology clinic of a university hospital. RESULTS: Of the 76 patients with MCD, 21 (28%) had focal cortical dysplasia, 19 (25%) had heterotopias or agyria-pachygyria, and 36 (47%) had polymicrogyria or schizencephaly. There were 39 men and 37 women, aged 2 to 52 years (mean age, 13 years). In group 2, 6 patients (32%) had a family history of MCD, mental retardation, or miscarriages, suggesting a genetic predisposition. In group 3, family history of MCD was present in 5 patients (14%). Prenatal events occurred in 28 patients with MCD (37%) and 2 controls (5%) and were more frequent in patients with heterotopia or agyria-pachygyria and polymicrogyria (P<.001). Conversely, epilepsy occurred in all patients in group 1, in 17 patients (89%) in group 2, and in 17 patients (47%) in group 3. In group 3, epilepsy was less frequent (P<.001) and also more easily controlled (P =.005) than in other forms of MCD. CONCLUSIONS: Our findings support the idea of a spectrum among the different types of MCD. Focal cortical dysplasia (group 1) is associated with more frequent and severe epilepsy and less important genetic and prenatal events, heterotopias and agyria-pachygyria (group 2) are frequently associated with genetic predisposition, and polymicrogyria and schizencephaly (group 3) are less frequently associated with epilepsy but have a stronger association with genetic and detectable prenatal events.
机译：背景:尽管一些畸形的原因皮质的发展(MCD)建立,其他人仍不清楚。几行支持这个理论的证据一个复杂的机制,涉及遗传环境因素。遗传学和产前的相互关系损伤的起源。设计:一系列的连续76患者MCD系统和他们的家庭询问他们的家庭的历史癫痫或其他神经系统损伤和产前事件的发生。磁共振成像在其他如果背景下被怀疑或家庭成员任何神经损伤。被分成3组根据类型的统治地位。发育不良、组2异位(室旁或皮质下)agyria-pachygyria和组3 polymicrogyria或schizencephaly。相比之下,一群疾病控制的40岁癫痫患者连续但没有价格上调。医院。21(28%)有焦皮质发育不良,19 (25%)异位或agyria-pachygyria, 36(47%)有polymicrogyria或者schizencephaly。39岁男性和37岁女性,2 - 52岁吗(平均年龄13年)。(32%)有一个家庭的历史背景下,精神迟钝,或者流产,建议遗传倾向。的历史背景下出现在5例(14%)。产前事件发生在患者282(37%)和控制(5%)和更频繁患者异位或agyria-pachygyria和polymicrogyria (P <措施)。发生在所有的病人组1、17组2例(89%),17个病人在3组(47%)。频繁(P <措施),也更容易控制(P = .005)比其他形式的统治地位。结论:我们的研究结果支持这样的设想光谱中不同类型的文章。皮质发育不良(组1)相关联更频繁和严重的癫痫和更少重要的遗传和产前的事件,异位和agyria-pachygyria(组2)经常与遗传有关倾向,polymicrogyria和schizencephaly(组3)更频繁与癫痫相关但更强与产前遗传和察觉事件。

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