Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study.

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.