Department of Neurology, Kitasato University School of Medicine, Kanagawa, Japan.
Mov Disord. 2013 Mar;28(3):388-91. doi: 10.1002/mds.25346. Epub 2013 Feb 11.
We report neuropathologic findings in a patient with homozygous deletions of exons 2 to 4 of parkin.
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.
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.
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.
我们报告了一名纯合缺失 parkin 外显子 2 至 4 的患者的神经病理学发现。
尽管缺乏 Lewy 体被认为是 parkin 突变的神经病理学特征，但在这里我们报告了一个存在 Lewy 体的病理发现。
患者为 72 岁女性，发病年龄为 61 岁。尸检显示黑质和蓝斑中黑色素神经元明显减少。Lewy 体存在于黑质、蓝斑、迷走神经背核、梅内尔特基底核、杏仁核和心肌交感神经束中。
只有 3 例先前的病例报告描述了携带 parkin 突变的患者形成 Lewy 体。我们患者的 Lewy 体分布似乎类似于散发性帕金森病。
