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Published online before print August 30, 2006, doi:10.1212/01.wnl.0000238963.07425.d5)
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Received April 5, 2006
Accepted July 18, 2006

POLG1 in idiopathic Parkinson disease

W. Tiangyou MSc, G. Hudson PhD, D. Ghezzi PhD, G. Ferrari PhD, M. Zeviani MD, PhD, D. J. Burn FRCP, and P. F. Chinnery PhD, FRCP*

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 Children’s 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.


* To whom correspondence should be addressed. E-mail: p.f.chinnery{at}ncl.ac.uk.

Abstract-- 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.




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[Abstract] [Full Text] [PDF]


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