Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
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DOI：
10.1212/01.wnl.0000230215.41296.18
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发表时间：
2006-09-12
期刊：
影响因子：
9.9
通讯作者：
Sidransky, E.
中科院分区：
文献类型：
--
作者：
Goker-Alpan, O.;Giasson, B. I.;Sidransky, E.
突触核蛋白病是神经退行性疾病，其定义为由异常变性的α-突触核蛋白组成的包涵体，但导致该过程的因素在很大程度上仍然未知。作者检查了75例不同突触核蛋白病尸检标本中的葡萄糖脑苷脂酶基因，并在23%的路易体痴呆病例中发现了突变，扩展了先前在帕金森病受试者中的发现。这种溶酶体蛋白的突变可能干扰α-突触核蛋白的清除或促进其聚集。
The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized alpha-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein.