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May 25, 2004Neurology357 citations

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

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DMDavid W. MillerSHStephen HagueJCJordi Clarimón

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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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Miller et al. (2004) studied this question.

synapsesocial.com/papers/6a70727eaf0c21e9392842a7https://doi.org/10.1212/01.wnl.0000127517.33208.f4
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