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From the Department of Neurology (W.T., G.H., D.J.B., P.F.C.) and Institute of Human Genetics (P.F.C.), The University of Newcastle upon Tyne, UK; Unit of Molecular Neurogenetics (D.G., G.F., M.Z.), Pierfranco and Luisa Mariani Center for the Study of Childrens Mitochondrial Disorders, National Neurological Institute, Milan, Italy; and Department of Neurology (D.J.B., P.F.C.), Regional Neurosciences Centre, Newcastle General Hospital, Newcastle upon Tyne, UK.
Address correspondence and reprint requests to Dr. Patrick F. Chinnery, M41014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH UK; e-mail: p.f.chinnery{at}ncl.ac.uk
We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 14 issue to find the title link for this article.
This article was previously published in electronic format as an Expedited E-Pub on August 30, 2006, at www.neurology.org.
Funded by the Rhoda Lockhart Trust. P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science and also receives funding from Ataxia (UK), the Alzheimers Research Trust, the Association Française contre les Myopathies, the United Mitochondrial Diseases Foundation, and the EU FP program EUmitocombat and MITOCIRCLE. M.Z. receives support from Fondazione Telethon-Italy (GGP030039) and Fondazione Pierfranco e Luisa Mariani, Italy.
Disclosure: The authors report no conflicts of interest.
Received April 5, 2006. Accepted in final form July 18, 2006.
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