Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
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DOI：
10.1212/01.wnl.0000156349.01765.2b
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发表时间：
2005-04-12
期刊：
影响因子：
9.9
通讯作者：
Baloh, RW
中科院分区：
文献类型：
--
作者：
Bosley, TM;Salih, MAM;Baloh, RW
目的：综述常染色体隐性水平凝视麻痹和进行性脊柱侧凸（HGPPS）的神经学、神经放射学和电生理学特征，HGPPS是由11号染色体上的ROBO 3基因突变引起的综合征，与某些脑干神经元系统的交叉缺陷相关。方法：对5个HGPPS家系中的11例HGPPS患者进行检测。8人进行了脑部MRI，6人进行了电生理学研究。结果：水平凝视麻痹是完全渗透，目前在出生时，和全部或几乎全部在所有受影响的个人。会聚，眼对准，先天性眼球震颤，垂直平滑追求缺陷是可变的个体之间。所有患者均在儿童早期发生进行性脊柱侧凸。所有适当的研究患者发育不全的脑桥和小脑脚与前和后中线裂的脑桥和延髓和电生理证据的同侧皮质脊髓和背柱内侧丘系束神经支配。杂合子不受影响。结论：水平凝视麻痹和进行性脊柱侧凸的主要临床特征是先天性水平凝视麻痹和进行性脊柱侧凸，眼球运动和脊柱侧凸程度存在一定的变异性。该综合征还包括一个独特的脑干畸形和有缺陷的一些脑干神经元通路的交叉。
Objective: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. Methods: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. Results: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. Conclusions: The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.