MACHADO-JOSEPH DISEASE - AN AUTOSOMAL DOMINANT MOTOR SYSTEM DEGENERATION
MACHADO-JOSEPH DISEASE - AN AUTOSOMAL DOMINANT MOTOR SYSTEM DEGENERATION
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DOI：
10.1002/mds.870070302
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发表时间：
1992-07-01
影响因子：
8.6
通讯作者：
ROSENBERG, RN
中科院分区：
文献类型：
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作者：
ROSENBERG, RN
Machado-Joseph病是一种常染色体显性遗传的脊髓小脑变性。它在临床上表现为多种多样的表达。第一型患者发病较早，症状迅速进展，包括痉挛、僵硬和肌张力。第二型患者是最常见的表型与共济失调和痉挛。三型患者发展为进行性共济失调伴可变肌萎缩。所有患者均有眼球轻瘫，精神状态正常。神经病理学包括黑质、运动颅核、小脑齿状核中的神经元丢失和神经胶质增生，以及小脑皮质和新纹状体中的可变神经元丢失伴神经胶质增生。大脑皮层组织学上正常。下橄榄核是正常的，从而将这种疾病与橄榄桥脑小脑萎缩（OPCA）分开。该疾病在世界范围内分布，包括在葡萄牙、亚速尔群岛、西班牙、意大利、美国、加拿大、巴西、中国、台湾和日本描述的家族。该基因尚未被映射为这种疾病，但染色体6p上的基因座映射为大多数家庭与OPCA已被排除这种疾病。
Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.