Cooper J A, Nakada T, Knight R T, Friedland R P
Ann Neurol. 1983 Nov;14(5):585-7. doi: 10.1002/ana.410140515.
Autosomal dominant motor system degeneration has been described primarily in Portuguese families from the Azorean Islands. The symptoms include various combinations of ataxia, pyramidal and extrapyramidal signs, appendicular dystonias, tics, ophthalmoplegias, and peripheral neuropathies with amyotrophy. One non-Portuguese, non-Azorean black family has been described previously; this report describes a second such family affected by autosomal dominant motor system degeneration.
常染色体显性运动系统变性主要在来自亚速尔群岛的葡萄牙家庭中被描述。症状包括共济失调、锥体束和锥体外系体征、肢体肌张力障碍、抽搐、眼肌麻痹以及伴有肌萎缩的周围神经病的各种组合。先前已描述过一个非葡萄牙、非亚速尔群岛的黑人家庭；本报告描述了第二个受常染色体显性运动系统变性影响的此类家庭。
