α-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication
DW Miller, SM Hague, J Clarimon, M Baptista… - Neurology, 2004 - AAN Enterprises
Neurology, 2004•AAN Enterprises
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 α-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
α-synuclein.
Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the
amount of α-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
α-synuclein.
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 α-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 α-synuclein.
American Academy of Neurology