MACHADO-JOSEPH-AZOREAN DISEASE - A 10-YEAR STUDY
MACHADO-JOSEPH-AZOREAN DISEASE - A 10-YEAR STUDY
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DOI：
10.1001/archneur.1984.04050200027013
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发表时间：
1984-01-01
影响因子：
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通讯作者：
FOWLER, HL
中科院分区：
文献类型：
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作者：
FOWLER, HL
在对Machado-Joseph-Azorean病（MJAD）的10年研究中，出现了以下3种不同的综合征：共济失调综合征（11例患者）、共济失调-运动神经元综合征（4例）和共济失调-运动神经元-锥体外系综合征（2例）。3例患者的病情进展到无法进行分类。这些综合征比以前的分类更准确地描述了功能缺陷。5例首次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，14例随访中2例扩散到运动神经元和锥体外系。没有痴呆;周围神经病变是所有综合征常见的晚期并发症。MJAD的世界存在可能始于1415年葡萄牙的海外扩张。或者，必须考虑多个自发突变的可能性。遗传的相同性取决于一个特定的遗传标记，这是目前还没有。为了准确的遗传咨询，需要寻找这种疾病的非特异性生物标志物。眼震电图的变化可能会有所帮助。这是特别重要的，因为这种疾病，如亨廷顿氏病，通常是不明显的，直到生育年或以后。
In a 10-yr study of Machado-Joseph-Azorean disease (MJAD), the following 3 distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron syndrome (4) and ataxia-motor neuron-extrapyramidal syndrome (2). 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 in 5 patients, and to the motor neurons and the extrapyramidal system in 2 of 14 patients followed up. There is no dementia; 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. 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.