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. 2004 May 25;62(10):1835-8.
doi: 10.1212/01.wnl.0000127517.33208.f4.

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

D W Miller  1 , S M Hague, J Clarimon, M Baptista, K Gwinn-Hardy, M R Cookson, A B Singleton
Affiliations

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

D W Miller et al. Neurology. .

Abstract

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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