© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe
1Mitochondrial Research Group, 2Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK, 3Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute and 4Division of Biochemistry and Genetics, National Neurological Institute, Milan, Italy
Correspondence to: Prof. Patrick F. Chinnery, M4014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK E-mail: p.f.chinnery@ncl.ac.uk
Received October 16, 2006. Revised January 9, 2007. Accepted January 11, 2007.
| The first 10% of the full text of this article appears below. |
In a recent edition of Brain, Tzoulis and colleagues (Tzoulis et al., 2006
) described the presentation and natural history of neurological disease due to the c.1399G 
A/A467T and c.2243G C/W748S mutations in POLG. POLG codes for mitochondrial DNA (mtDNA) polymerase (pol 
), the only polymerase present within mitochondria (Kaguni, 2004). Pathogenic POLG mutations were first described in autosomal dominant and recessive progressive external ophthalmoplegia (PEO) (Van Goethem et al., 2001), and more recently in recessive late-onset ataxia with peripheral neuropathy (Van Goethem et al., 2003; Winterthun
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Results and Discussion |
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