Lima L, Coutinho P
Neurology. 1980 Mar;30(3):319-22. doi: 10.1212/wnl.30.3.319.
A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado-Joseph disease. Clinical criteria for diagnosis are proposed, based on a complex clinical picture extending from extrapyramidal signs to peripheral amyotrophy associated with secondary, but more specific, minor features such as progressive external ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, and bulging eyes. Machado-Joseph disease may be more widespread than previously believed.
一个非亚速尔群岛血统的葡萄牙家族被描述为患有类似马查多-约瑟夫病的常染色体显性遗传性共济失调。基于从锥体外系体征到周围性肌萎缩等复杂临床表现，并伴有继发性但更具特异性的轻微特征，如进行性眼外肌麻痹、肌张力障碍、面部和舌肌意向性束颤样运动以及眼球突出，提出了诊断的临床标准。马查多-约瑟夫病可能比之前认为的更为普遍。
