Gamez Josep, Corbera-Bellalta Marc, Mila Montserrat, López-Lisbona Rosa, Boluda Susana, Ferrer Isidre
Neurology Department, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain.
Mov Disord. 2008 Feb 15;23(3):434-8. doi: 10.1002/mds.21856.
Hyperkinetic movements in amyotrophic lateral sclerosis (ALS) are extremely rare. We present clinical, neuropathological, and genetic data for a 53-year-old woman with spinal onset ALS presenting chorea affecting the face, mouth, neck, and hands, and ballism in both arms 31 months after leg weakness onset. Her father and older sister had ALS, but had no movement disorders. As well as the typical neuropathological findings of ALS (marked upper and lower motor neuron loss), post-mortem examination showed prominent neuronal loss and gliosis in the subthalamus, and in the internal globus pallidus, substantia nigra pars compacta, and red nucleus. No abnormalities were found in the caudate, putamen, and thalamus. No defects were found in the SOD1, HD, and DRPLA genes. These data support the idea that choreo-ballism in ALS Plus may be the result of pallido-luyso-rubro-nigral atrophy, despite not being the result of concomitant DRPLA based on neuropathological and genetic criteria.
肌萎缩侧索硬化症（ALS）中的运动亢进极为罕见。我们提供了一名53岁女性脊柱型ALS患者的临床、神经病理学和遗传学数据。该患者在腿部无力发作31个月后出现累及面部、口腔、颈部和手部的舞蹈症以及双臂投掷症。她的父亲和姐姐患有ALS，但无运动障碍。除了ALS典型的神经病理学表现（明显的上下运动神经元丧失）外，尸检显示下丘脑、苍白球内侧部、黑质致密部和红核有明显的神经元丧失和胶质细胞增生。尾状核、壳核和丘脑未发现异常。超氧化物歧化酶1（SOD1）、亨廷顿舞蹈症（HD）和齿状核红核苍白球路易体萎缩症（DRPLA）基因未发现缺陷。这些数据支持了这样一种观点，即ALS伴发的舞蹈投掷症可能是苍白球-路易体-红核-黑质萎缩的结果，尽管根据神经病理学和遗传学标准并非由DRPLA伴发所致。
