Background:

Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations.

Methods:

We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements.

Results:

The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1.

Conclusion:

DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.

中文翻译：

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与脑畸形相关的先天性镜像运动

背景：

先天性镜像运动是身体一侧模仿对侧有意运动的不自主运动，出现在儿童早期并持续到 7 岁以上。先天性镜子运动通常是特发性的，但据报道与各种脑畸形有关。

方法：

我们描述了来自 5 个家庭的 9 个个体的临床、遗传和放射学特征，这些个体表现出先天性镜像运动。

结果：

与先天性镜像运动相关的脑畸形是：父亲和女儿胼胝体发育不良，DCC有杂合 p.Met1* 突变；TUBB3 杂合 p.Thr312Met 突变母子的胼胝体发育不全、脑回活动障碍和蚓部畸形；父亲和 2 个女儿的胼胝体发育不良、脑回异常、蚓部异常和不对称心室，TUBB 中存在p.Arg121Trp 杂合突变；TUBA1A杂合 p.Glu155Asp 突变患者的胼胝体发育不全、脑回异常、基底节畸形和蚓部异常；脑积水、胼胝体发育不全、多小脑回和小脑囊肿，该患者具有纯合 p.Pro312Leu 突变POMGNT1。

结论：

DCC、TUBB3、TUBB、TUBA1A、POMGNT1通过不同的机制引起轴突引导异常，并导致与脑畸形相关的先天性镜像运动。