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NEUROLOGY 2004;62:1835-1838
© 2004 American Academy of Neurology
Expedited Brief Communication

{alpha}-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

D. W. Miller, PhD, S. M. Hague, PhD, J. Clarimon, PhD, M. Baptista, PhD, K. Gwinn-Hardy, MD, M. R. Cookson, PhD and A. B. Singleton, PhD

From the Laboratory of Neurogenetics (Drs. Miller, Hague, Clarimon, Baptista, Cookson, and Singleton), National Institute on Aging, and Neurogenetics Branch (Dr. Gwinn-Hardy), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

Address correspondence and reprint requests to Dr. A.B. Singleton, Laboratory of Neurogenetics, National Institute on Aging, NIH, 9000 Rockville Pike, Bethesda, MD 20892; e-mail: singleta{at}mail.nih.gov

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.

Received December 3, 2003. Accepted in final form March 17, 2004.

Footnotes

Drs. Miller and Hague contributed equally to this work.




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