Fowler H L
Arch Neurol. 1984 Sep;41(9):921-5. doi: 10.1001/archneur.1984.04050200027013.
In a ten-year study of Machado-Joseph-Azorean disease (MJAD), three distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron-extrapyramidal syndrome (four), and ataxia-motor neuron-extrapyramidal syndrome (two). Three patients had such advanced disease that classification was not possible. These syndromes more accurately describe functional deficits than did previous classifications. Spread of neuronal degeneration from the cerebellar system to the motor neurons of the spinal cord and brain stem was found for the first time, to my knowledge, in five patients and to the motor neurons and the extrapyramidal system in two of 14 patients followed up. There is no dementia, and peripheral neuropathy is a late complication common to all syndromes. World presence of MJAD could have begun with Portuguese overseas expansion in 1415. Alternatively, the possibility of multiple spontaneous mutations must be considered. Genetic sameness depends on a specific genetic marker, which is not yet available. For accurate genetic counseling, a nonspecific biologic marker for this disease is sought, and electronystagmography changes may prove helpful. This is particularly important as this illness, like Huntington's disease, is usually not manifest until the child-bearing years or after.
在一项为期十年的马查多 - 约瑟夫 - 亚速尔病（MJAD）研究中，出现了三种不同的综合征：共济失调综合征（11例患者）、共济失调 - 运动神经元 - 锥体外系综合征（4例）和共济失调 - 运动神经元 - 锥体外系综合征（2例）。三名患者病情进展严重，无法进行分类。与先前的分类相比，这些综合征能更准确地描述功能缺陷。据我所知，首次在五名患者中发现神经元变性从小脑系统扩散到脊髓和脑干的运动神经元，在随访的14名患者中有两名患者的神经元变性扩散到运动神经元和锥体外系。无痴呆症状，周围神经病变是所有综合征常见的晚期并发症。MJAD在世界范围内的存在可能始于1415年葡萄牙的海外扩张。或者，必须考虑多次自发突变的可能性。基因同一性取决于一种尚未获得的特定基因标记。为了进行准确的遗传咨询，正在寻找这种疾病的非特异性生物学标记，眼震电图变化可能会有所帮助。这一点尤为重要，因为这种疾病与亨廷顿病一样，通常在生育年龄或之后才会显现。
