弥漫性路易体病中的葡萄糖脑苷脂酶突变。
Glucocerebrosidase mutations in diffuse Lewy body disease.
机构信息
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Parkinsonism Relat Disord. 2011 Jan;17(1):55-7. doi: 10.1016/j.parkreldis.2010.09.009.
Abstract
Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.
摘要
临床遗传学和病理学研究表明，葡萄糖脑苷脂酶基因（GBA）的突变是帕金森病和路易体障碍的一个危险因素。在本研究中，我们在 6.8%（4/59）经病理学诊断为弥漫性路易体病的病例中发现了 GBA 突变。结合以往的研究，似乎 GBA 突变与更广泛的路易体分布模式有关，涉及大脑皮层，而不是典型帕金森病中观察到的脑干/边缘分布。
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