Sci. Aging Knowl. Environ., 5 November 2003
-Synuclein Locus Triplication Causes Parkinson's Disease
A. B. Singleton, M. Farrer, J. Johnson, A. Singleton, S. Hague, J. Kachergus, M. Hulihan, T. Peuralinna, A. Dutra, R. Nussbaum, S. Lincoln, A. Crawley, M. Hanson, D. Maraganore, C. Adler, M. R. Cookson, M. Muenter, M. Baptista, D. Miller, J. Blancato, J. Hardy, and K. Gwinn-Hardyhttp://sageke.sciencemag.org/cgi/content/abstract/sageke;2003/44/or23
Abstract: Science 302, 841 (2003).
Mutations in the -synuclein gene (SNCA) in the Contursi kindred implicated this gene in Parkinson's disease (PD). Subsequently, -synuclein was identified as the major component of Lewy bodies, the pathological hallmark of PD, and of glial cell cytoplasmic inclusions. We examined a large family with autosomal dominant PD (average age of onset, 34 years), ranging clinically from dementia with Lewy bodies to typical PD. Quantitative real-time PCR amplification of SNCA exons yielded results consistent with whole gene triplication.
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