α-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

被引：286

作者：

Miller, DW

Hague, SM

Clarimon, J

Baptista, M

Gwinn-Hardy, K

Cookson, MR

Singleton, AB

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] NINDS, Neurogenet Branch, NIH, Bethesda, MD USA

来源：

NEUROLOGY | 2004年 / 62卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000127517.33208.F4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors recently demonstrated that genetic triplication of the SNCA locus causes Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood. Examination of brain tissue showed a doubling in the level of SNCA message. However, at the protein level in brain, there was a greater effect on deposition of aggregated forms into insoluble fractions than on net expression of soluble alpha-synuclein.

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页码：1835 / 1838

页数：4

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