Tsuru A, Mizuguchi M, Uyemura K, Takashima S
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
Clin Neuropathol. 1997 May-Jun;16(3):122-6.
We studied immunohistochemically the expression pattern of a neural cell adhesion molecule, L1, in various human migration disorders associated with polymicrogyria: 4 fetuses and 11 infants having Fukuyama type congenital muscular dystrophy (FCMD) (4 cases), Zellweger syndrome (6) or thanatophoric dysplasia (3) and intrauterine brain damages (2) at different development stages, comparing to age-matched controls. There were different patterns of L1 expression, which suggested at least 3 pathogenetic mechanisms: high expression associated with neuoraxonal overgrowth (fetal FCMD and destructive event at intermigratory period); delayed expression with neuronal dysmaturation and dysmyelinogenesis (late infantile stage of Zellweger syndrome); no expression in toxic or destructive brain injury (Zellweger syndrome or destructive events at inter-or postmigratory periods).
我们采用免疫组化方法研究了神经细胞黏附分子L1在各种与多小脑回相关的人类迁移障碍中的表达模式：4例胎儿和11例患有福山型先天性肌营养不良（FCMD）（4例）、泽尔韦格综合征（6例）或致死性发育不良（3例）以及不同发育阶段宫内脑损伤（2例）的婴儿，并与年龄匹配的对照组进行比较。L1表达存在不同模式，提示至少3种发病机制：与神经轴突过度生长相关的高表达（胎儿期FCMD和迁移间期的破坏性事件）；与神经元成熟障碍和髓鞘形成异常相关的延迟表达（泽尔韦格综合征婴儿晚期）；在中毒性或破坏性脑损伤中无表达（泽尔韦格综合征或迁移间期或迁移后期的破坏性事件）。
