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Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy

*The first two authors contributed equally to this work.
From Reta Lila Weston Institute of Neurological Studies (Drs. de Silva, Morris, and Lees, and A. Hope and A. Pittman), Department of Molecular Neuroscience, Institute of Neurology (Drs. de Silva, Morris, Wood, and Lees), and The Centre for Genetic Anthropology, Department of Biology (Dr. Weale), University College London, UK.

Address correspondence and reprint requests to Dr. Rohan de Silva, Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London, W1T 4JF, UK; e-mail: rsilva{at}ion.ucl.ac.uk

Recent reports are inconclusive in showing that the Q7R polymorphism of the novel Saitohin gene, nested in intron 9 of the tau gene, is associated with AD. The authors show that this polymorphism is in complete linkage disequilibrium with the extended tau H1/H2 haplotype and that the Q variant and QQ genotype of Q7R are strongly associated with progressive supranuclear palsy, implicating it as a possibly important pathogenic candidate.

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