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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.

We recently reported here that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood from cases with hereditary Lewy body disease. This observation shows that alpha-synuclein levels in blood accurately reflect gene dosage, which we assume drives pathogenesis in these individuals. A previous report has suggested that parkin can affect alpha-synuclein metabolism in human brain. Here we have tested whether there is also an increase of alpha-synuclein in autosomal recessive juvenile Parkinsonism (ARJP). We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin.[1]

References

  1. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Miller, D.W., Crawley, A., Gwinn-Hardy, K., Lopez, G., Nussbaum, R., Cookson, M.R., Singleton, A.B., Hardy, J., Dogu, O. Neurosci. Lett. (2005) [Pubmed]
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