Genetically confirmed Huntington's disease masquerading as motor neuron disease
Genetically confirmed Huntington's disease masquerading as motor neuron disease
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DOI：
10.1002/mds.21937
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发表时间：
2008-04-15
影响因子：
8.6
通讯作者：
Hattori, Takamichi
中科院分区：
文献类型：
--
作者：
Kanai, Kazuaki;Kuwabara, Satoshi;Hattori, Takamichi
我们描述了一位以不对称上肢肌萎缩为主要表现的亨廷顿氏病（HD）患者。舞蹈病和精神症状不明显。肌电图显示全身活跃和慢性去神经支配和束状。基因测试显示，亨廷顿蛋白基因中有46个CAG重复序列。一些进行性舞蹈病和肌萎缩症无棘细胞增多症的患者有局限于上肢的不对称肌萎缩的报道，但基因证实的HD病例很少报道。目前尚不清楚为什么只有少数HD患者表现出运动神经元的丧失；然而，与肌萎缩性侧索硬化症类似，某些尚未确定的遗传因素结合一些环境因素和潜在的细胞功能障碍可能是运动神经元丧失的原因。(c) 2008运动障碍学会。
We describe a patient with Huntington's disease (HD) who showed asymmetrical upper limb amyotrophy as a main manifestation. Chorea and psychiatric symptoms were not prominent. Electromyography revealed generalized active and chronic denervation and fasciculations. A genetic test showed 46 CAG repeats in the huntingtin gene. Asymmetrical amyotrophy restricted to the upper limb has been reported in some patients with progressive chorea and amyotrophy without acanthocytosis, but genetically proven cases of HD have rarely been reported. It is not known why only a few HD patients show the motor neuronal loss; however, certain as-yet-unidentified genetic factors combined with some environment factors and the underlying cellular dysfunctions by polyglutamine aggregation could be responsible for the motor neuronal loss similar to that in amyotrophic lateral sclerosis. (c) 2008 Movement Disorder Society.