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LRRK2 mutations in Parkinson disease

From the Department of Neuroscience (Dr. Farrer, and J. Stone, I.F. Mata, S. Lincoln, J. Kachergus, and M. Hulihan), Mayo Clinic College of Medicine, Jacksonville, FL; and the Departments of Health Sciences Research (K.J. Strain) and Neurology (Dr. Maraganore), Mayo Clinic College of Medicine, Rochester, MN.

Address correspondence and reprint requests to Dr. Matthew Farrer, Department of Neuroscience, Mayo Clinic College of Medicine, Birdsall Bldg, 4500 San Pablo Road, Jacksonville, FL 32224; e-mail: farrer.matthew{at}mayo.edu

To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 unrelated controls. The authors designed allelic discrimination assays for nine LRRK2 mutations and identified these in six probands with PD, one affected sibling, one unaffected sibling, and one unrelated control. Thus LRRK2 mutations only rarely cause idiopathic PD.

Editorial, see page 664

See also pages 696 and 741

This article was previously published in electronic format as an Expedited E-Pub on June 22, 2005, at www.neurology.org.

Supported by the NIH grants R01 ES10751, R01 NS33978, and P01 NS40256.

Received February 9, 2005. Accepted in final form April 21, 2005.

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