Harding A E, Diengdoh J V, Lees A J
J Neurol Neurosurg Psychiatry. 1984 Aug;47(8):853-6. doi: 10.1136/jnnp.47.8.853.
A sister and brother developed a progressive syndrome comprising bulbar palsy, supranuclear ophthalmoplegia, facial impassivity, and cerebellar ataxia together with a mixed pyramidal and extrapyramidal deficit in the limbs, in the fourth decade of life. Their parents were unaffected and inheritance was probably autosomal recessive. The female patient, who presented initially with bulbar and extrapyramidal dysfunction, was found to have cerebellar cortical atrophy at necropsy. The basal ganglia and brainstem were normal.
一对姐弟在四十岁时出现了一种进行性综合征，包括延髓麻痹、核上性眼肌麻痹、面部表情缺失、小脑共济失调，以及四肢混合性锥体束和锥体外系功能障碍。他们的父母未受影响，遗传方式可能为常染色体隐性遗传。最初表现为延髓和锥体外系功能障碍的女性患者在尸检时发现有小脑皮质萎缩。基底神经节和脑干正常。
