Primary skeletal muscle involvement in chorea-acanthocytosis
Primary skeletal muscle involvement in chorea-acanthocytosis
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DOI：
10.1002/mds.21437
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发表时间：
2007-04-30
影响因子：
8.6
通讯作者：
Hirose, Genjiro
中科院分区：
文献类型：
--
作者：
Saiki, Shinji;Sakai, Koichiro;Hirose, Genjiro
舞蹈棘红细胞增多症是一种以不自主运动和肌萎缩为特征的遗传性疾病，伴有血清肌酸激酶升高。虽然骨骼肌参与ChAc已被提出，但其机制仍不清楚。为了研究具有明显杂合VPS 13 A突变的ChAC患者与其他遗传性舞蹈病患者相比骨骼肌的软骨素异常，我们对3例ChAC、1例亨廷顿病（HD）、1例麦克劳德综合征（MLS）和1例正常对照（NC）的骨骼肌进行了组织学和免疫组织化学研究，其中使用2种最初产生的抗软骨素抗体。HD、MLS和NC的Chorein免疫反应呈沿着肌膜呈线性分布，在肌浆内呈斑点状，而ChAc的Chorein免疫反应呈不均匀、不连续的沿着肌膜分布，在肌浆内呈增强，尤其是在I型纤维。这种组织学观察表明，骨骼肌的chorein异常可能与这种疾病中骨骼肌的原发性受累有关。(c)2007年，《社会运动》创刊。
Chorea-acanthocytosis (ChAc) is a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase. Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, I Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti-chorein antibodies. Chorein immunoreactivities in HD, MLS, and NC were found linearly along the sarcolemma and appeared as speckles in the sarcoplasma, but those in ChAc were uneven and discontinuous along the sarcolemmas and increased in the sarcoplasma especially in type I fibers. This histological observation suggests chorein abnormalities of skeletal muscles might be associated with primary involvement of skeletal muscles in this disorder. (c) 2007 Movement Disorder Society.