ten Donkelaar H J, Lammens M, Wesseling P, Thijssen H O, Renier W O, Gabreëls F J
Instituut voor Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2001 Mar 10;145(10):466-74.
Neuronal migration disorders of the cerebral cortex form a heterogeneous group of abnormalities, characterised by mental retardation, epilepsy and hypotonia. They are prevalent in 1% of the population and in 20-40% of the untreatable forms of epilepsy. Disorders at the start of the migration result in nodular heterotopias. Bilateral periventricular nodular heterotopias are X-linked disorders, in which cortical neurons are unable to leave their position at the ventricular surface due to the absence of filamin 1. The large group of lissencephalies can be divided into a number of syndromes, each of which is characterised by a gene mutation (LIS1, DCX, RELN). These mutations result in agyria and pachygyria, which are characteristic for this group. A number of these abnormalities, especially the smaller nodular heterotopias and focal cortical dysplasia, may be treated by neurosurgical excision.
大脑皮质神经元迁移障碍是一组异质性异常，其特征为智力发育迟缓、癫痫和肌张力减退。它们在1%的人群中普遍存在，在20 - 40%的难治性癫痫病例中出现。迁移开始时出现的障碍会导致结节性异位。双侧脑室周围结节性异位是X连锁疾病，由于缺乏细丝肌动蛋白1，皮质神经元无法离开其在脑室表面的位置。大量的无脑回畸形可分为多种综合征，每种综合征都有基因突变（LIS1、DCX、RELN）特征。这些突变导致无脑回和巨脑回，这是该组疾病的特征。其中一些异常，特别是较小的结节性异位和局灶性皮质发育异常，可通过神经外科手术切除进行治疗。
