Lewy body pathology in a patient with a homozygous Parkin deletion
Lewy body pathology in a patient with a homozygous Parkin deletion
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DOI：
10.1002/mds.25346
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发表时间：
2013-03-01
影响因子：
8.6
通讯作者：
Mochizuki, Hideki
中科院分区：
文献类型：
--
作者：
Miyakawa, Saori;Ogino, Mieko;Mochizuki, Hideki
背景我们报告了一个parkin基因第2 - 4外显子纯合性缺失患者的神经病理学结果。结果虽然Lewy小体的缺失被认为是Parkin突变的神经病理学特征，但我们在此报告了一例Lewy小体存在的病理学发现。方法患者为72岁女性，61岁发病。她的尸检显示黑质和蓝斑的黑化神经元明显减少。在黑质、蓝斑、迷走神经背侧运动核、Meynert基底核、杏仁核和心肌交感神经束中发现Lewy小体。结论只有3例既往病例报告描述了携带parkin突变的患者中的Lewy小体形成。路易体的分布在我们的病人似乎是散发性帕金森氏病的回忆。(c)2013年运动障碍协会
Background We report neuropathologic findings in a patient with homozygous deletions of exons 2 to 4 of parkin. Results Although the absence of Lewy bodies has been considered a neuropathologic characteristic of parkin mutation, here we report a pathologic finding with the presence of Lewy bodies. Methods The patient was a 72-year-old woman with onset of the disease at age 61. Her autopsy revealed marked decrease in melanized neurons in the substantia nigra and the locus coeruleus. Lewy bodies were found in the substantia nigra, the locus coeruleus, the dorsal motor nucleus of the vagus, the basal nucleus of Meynert, the amygdaloid nucleus, and the sympathetic nerve bundles in the myocardium. Conclusions Only 3 previous case reports described Lewy body formation in patients carrying parkin mutations. The distribution of Lewy bodies in our patient appeared to be reminiscent of sporadic Parkinson's disease. (c) 2013 Movement Disorder Society