Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
Identifieur interne : 001169 ( Istex/Corpus ); précédent : 001168; suivant : 001170Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
Auteurs : Christopher F. Mcnicoll ; Jeanne C. Latourelle ; Marcy E. Macdonald ; Mark F. Lew ; Oksana Suchowersky ; Christine Klein ; Lawrence I. Golbe ; Margery H. Mark ; John H. Growdon ; G. Frederick Wooten ; Ray L. Watts ; Mark Guttman ; Brad A. Racette ; Joel S. Perlmutter ; Anwar Ahmed ; Holly A. Shill ; Carlos Singer ; Marie H. Saint-Hilaire ; Tiffany Massood ; Karen W. Huskey ; Anita L. Destefano ; Tammy Gillis ; Jayalakshmi Mysore ; Stefano Goldwurm ; Gianni Pezzoli ; Kenneth B. Baker ; Ilia Itin ; Irene Litvan ; Garth Nicholson ; Alastair Corbett ; Martha Nance ; Edward Drasby ; Stuart Isaacson ; David J. Burn ; Patrick F. Chinnery ; Peter P. Pramstaller ; Jomana Al-Hinti ; Anette T. Moller ; Karen Ostergaard ; Scott J. Sherman ; Richard Roxburgh ; Barry Snow ; John T. Slevin ; Franca Cambi ; James F. Gusella ; Richard H. MyersSource :
- Movement Disorders [ 0885-3185 ] ; 2008-08-15.
English descriptors
Abstract
The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22186
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<author><name sortKey="Mcnicoll, Christopher F" sort="Mcnicoll, Christopher F" uniqKey="Mcnicoll C" first="Christopher F." last="Mcnicoll">Christopher F. Mcnicoll</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
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<author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne C." last="Latourelle">Jeanne C. Latourelle</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
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<author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E." last="Macdonald">Marcy E. Macdonald</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lew, Mark F" sort="Lew, Mark F" uniqKey="Lew M" first="Mark F." last="Lew">Mark F. Lew</name>
<affiliation><mods:affiliation>Department of Neurology, University of Southern California, Los Angeles, California, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
<affiliation><mods:affiliation>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada</mods:affiliation>
</affiliation>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><mods:affiliation>Department of Neurology, Medical University of Lübeck, Lübeck, Germany</mods:affiliation>
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</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
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</affiliation>
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<author><name sortKey="Mark, Margery H" sort="Mark, Margery H" uniqKey="Mark M" first="Margery H." last="Mark">Margery H. Mark</name>
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</affiliation>
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<author><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name>
<affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
<affiliation><mods:affiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</mods:affiliation>
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<author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. Watts</name>
<affiliation><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation>
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<author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
<affiliation><mods:affiliation>Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation>
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<author><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<affiliation><mods:affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<affiliation><mods:affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ahmed, Anwar" sort="Ahmed, Anwar" uniqKey="Ahmed A" first="Anwar" last="Ahmed">Anwar Ahmed</name>
<affiliation><mods:affiliation>Barrow Neurological Institute, Phoenix, Arizona, USA</mods:affiliation>
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<author><name sortKey="Shill, Holly A" sort="Shill, Holly A" uniqKey="Shill H" first="Holly A." last="Shill">Holly A. Shill</name>
<affiliation><mods:affiliation>Sun Health Research Institute, Sun City, Arizona, USA</mods:affiliation>
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<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
<affiliation><mods:affiliation>Department of Neurology, University of Miami, Miami, Florida, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Saint Ilaire, Marie H" sort="Saint Ilaire, Marie H" uniqKey="Saint Ilaire M" first="Marie H." last="Saint-Hilaire">Marie H. Saint-Hilaire</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Massood, Tiffany" sort="Massood, Tiffany" uniqKey="Massood T" first="Tiffany" last="Massood">Tiffany Massood</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Huskey, Karen W" sort="Huskey, Karen W" uniqKey="Huskey K" first="Karen W." last="Huskey">Karen W. Huskey</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L." last="Destefano">Anita L. Destefano</name>
<affiliation><mods:affiliation>Department of Biostatistics, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gillis, Tammy" sort="Gillis, Tammy" uniqKey="Gillis T" first="Tammy" last="Gillis">Tammy Gillis</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mysore, Jayalakshmi" sort="Mysore, Jayalakshmi" uniqKey="Mysore J" first="Jayalakshmi" last="Mysore">Jayalakshmi Mysore</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
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<author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
<affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy</mods:affiliation>
</affiliation>
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<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
<affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy</mods:affiliation>
</affiliation>
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<author><name sortKey="Baker, Kenneth B" sort="Baker, Kenneth B" uniqKey="Baker K" first="Kenneth B." last="Baker">Kenneth B. Baker</name>
<affiliation><mods:affiliation>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Itin, Ilia" sort="Itin, Ilia" uniqKey="Itin I" first="Ilia" last="Itin">Ilia Itin</name>
<affiliation><mods:affiliation>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name>
<affiliation><mods:affiliation>Department of Neurology, University of Louisville School of Medicine, Louisville, Kentucky, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name>
<affiliation><mods:affiliation>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Corbett, Alastair" sort="Corbett, Alastair" uniqKey="Corbett A" first="Alastair" last="Corbett">Alastair Corbett</name>
<affiliation><mods:affiliation>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name>
<affiliation><mods:affiliation>Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, Minnesota, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Drasby, Edward" sort="Drasby, Edward" uniqKey="Drasby E" first="Edward" last="Drasby">Edward Drasby</name>
<affiliation><mods:affiliation>Port City Neurology, Scarborough, Maine, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Isaacson, Stuart" sort="Isaacson, Stuart" uniqKey="Isaacson S" first="Stuart" last="Isaacson">Stuart Isaacson</name>
<affiliation><mods:affiliation>Parkinson's Disease and Movement Disorder Center of Boca Raton, Boca Raton, Florida, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J." last="Burn">David J. Burn</name>
<affiliation><mods:affiliation>Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation><mods:affiliation>Regional Neurosciences Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
<affiliation><mods:affiliation>Department of Neurology, General Regional Hospital Bolzano, Bolzano, Italy</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Al Inti, Jomana" sort="Al Inti, Jomana" uniqKey="Al Inti J" first="Jomana" last="Al-Hinti">Jomana Al-Hinti</name>
<affiliation><mods:affiliation>Department of Neurology, University of Arkansas for Medical Sciences, Arkansas, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Moller, Anette T" sort="Moller, Anette T" uniqKey="Moller A" first="Anette T." last="Moller">Anette T. Moller</name>
<affiliation><mods:affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ostergaard, Karen" sort="Ostergaard, Karen" uniqKey="Ostergaard K" first="Karen" last="Ostergaard">Karen Ostergaard</name>
<affiliation><mods:affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sherman, Scott J" sort="Sherman, Scott J" uniqKey="Sherman S" first="Scott J." last="Sherman">Scott J. Sherman</name>
<affiliation><mods:affiliation>Department of Neurology, University of Arizona, Tucson, Arizona, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name>
<affiliation><mods:affiliation>Department of Neurology, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Snow, Barry" sort="Snow, Barry" uniqKey="Snow B" first="Barry" last="Snow">Barry Snow</name>
<affiliation><mods:affiliation>Department of Neurology, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Slevin, John T" sort="Slevin, John T" uniqKey="Slevin J" first="John T." last="Slevin">John T. Slevin</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cambi, Franca" sort="Cambi, Franca" uniqKey="Cambi F" first="Franca" last="Cambi">Franca Cambi</name>
<affiliation><mods:affiliation>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F." last="Gusella">James F. Gusella</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H." last="Myers">Richard H. Myers</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>715 Albany Street, E‐304, Boston University School of Medicine, Boston, Massachusetts 02118</mods:affiliation>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study</title>
<author><name sortKey="Mcnicoll, Christopher F" sort="Mcnicoll, Christopher F" uniqKey="Mcnicoll C" first="Christopher F." last="Mcnicoll">Christopher F. Mcnicoll</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne C." last="Latourelle">Jeanne C. Latourelle</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Macdonald, Marcy E" sort="Macdonald, Marcy E" uniqKey="Macdonald M" first="Marcy E." last="Macdonald">Marcy E. Macdonald</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lew, Mark F" sort="Lew, Mark F" uniqKey="Lew M" first="Mark F." last="Lew">Mark F. Lew</name>
<affiliation><mods:affiliation>Department of Neurology, University of Southern California, Los Angeles, California, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
<affiliation><mods:affiliation>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><mods:affiliation>Department of Neurology, Medical University of Lübeck, Lübeck, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mark, Margery H" sort="Mark, Margery H" uniqKey="Mark M" first="Margery H." last="Mark">Margery H. Mark</name>
<affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name>
<affiliation><mods:affiliation>Department of Neurology, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
<affiliation><mods:affiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. Watts</name>
<affiliation><mods:affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
<affiliation><mods:affiliation>Department of Medicine, University of Toronto, Toronto, Canada</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<affiliation><mods:affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<affiliation><mods:affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ahmed, Anwar" sort="Ahmed, Anwar" uniqKey="Ahmed A" first="Anwar" last="Ahmed">Anwar Ahmed</name>
<affiliation><mods:affiliation>Barrow Neurological Institute, Phoenix, Arizona, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shill, Holly A" sort="Shill, Holly A" uniqKey="Shill H" first="Holly A." last="Shill">Holly A. Shill</name>
<affiliation><mods:affiliation>Sun Health Research Institute, Sun City, Arizona, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
<affiliation><mods:affiliation>Department of Neurology, University of Miami, Miami, Florida, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Saint Ilaire, Marie H" sort="Saint Ilaire, Marie H" uniqKey="Saint Ilaire M" first="Marie H." last="Saint-Hilaire">Marie H. Saint-Hilaire</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Massood, Tiffany" sort="Massood, Tiffany" uniqKey="Massood T" first="Tiffany" last="Massood">Tiffany Massood</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Huskey, Karen W" sort="Huskey, Karen W" uniqKey="Huskey K" first="Karen W." last="Huskey">Karen W. Huskey</name>
<affiliation><mods:affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L." last="Destefano">Anita L. Destefano</name>
<affiliation><mods:affiliation>Department of Biostatistics, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gillis, Tammy" sort="Gillis, Tammy" uniqKey="Gillis T" first="Tammy" last="Gillis">Tammy Gillis</name>
<affiliation><mods:affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mysore, Jayalakshmi" sort="Mysore, Jayalakshmi" uniqKey="Mysore J" first="Jayalakshmi" last="Mysore">Jayalakshmi Mysore</name>
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<author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name>
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<author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name>
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<author><name sortKey="Sherman, Scott J" sort="Sherman, Scott J" uniqKey="Sherman S" first="Scott J." last="Sherman">Scott J. Sherman</name>
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<author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name>
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<author><name sortKey="Slevin, John T" sort="Slevin, John T" uniqKey="Slevin J" first="John T." last="Slevin">John T. Slevin</name>
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<front><div type="abstract" xml:lang="en">The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society</div>
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<json:item><name>Patrick F. Chinnery MD</name>
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<abstract>The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society</abstract>
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<notesStmt><note type="content">*No potential conflict of interest.</note>
<note>PHS - No. R01 NS36711‐09;</note>
<note>Genetic Linkage Study in PD - No. P50 NS16367‐27;</note>
<note>Huntington disease Center without walls</note>
<note>Huntington's Disease Society of America</note>
<note>Huntington Society of Canada</note>
<note>Hereditary Disease Foundation</note>
<note>Massachusetts Huntington's Disease Society of America</note>
<note>Coalition for the Cure of HDSA</note>
<note>Bumpus Foundation</note>
<note>Jerry MacDonald HD research fund</note>
<note>Italian Telethon - No. n. GTB07001;</note>
<note>Fondazione Grigioni per il Morbo di Parkinson</note>
</notesStmt>
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<author xml:id="author-18"><persName><forename type="first">Marie H.</forename>
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<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
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<author xml:id="author-21"><persName><forename type="first">Anita L.</forename>
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<affiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation>
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<author xml:id="author-27"><persName><forename type="first">Ilia</forename>
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<surname>Litvan</surname>
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<roleName type="degree">MD</roleName>
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<author xml:id="author-29"><persName><forename type="first">Garth</forename>
<surname>Nicholson</surname>
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<author xml:id="author-30"><persName><forename type="first">Alastair</forename>
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<author xml:id="author-31"><persName><forename type="first">Martha</forename>
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<author xml:id="author-32"><persName><forename type="first">Edward</forename>
<surname>Drasby</surname>
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<author xml:id="author-38"><persName><forename type="first">Anette T.</forename>
<surname>Moller</surname>
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<author xml:id="author-41"><persName><forename type="first">Richard</forename>
<surname>Roxburgh</surname>
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<author xml:id="author-43"><persName><forename type="first">John T.</forename>
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<surname>Gusella</surname>
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<abstract xml:lang="en"><p>The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society</p>
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<titleGroup><title type="main" xml:lang="en">Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The <i>Gene</i>
PD study<link href="#fn1"></link>
</title>
<title type="short" xml:lang="en">HD CAG Repeat Does Not Modify Onset in Familial PD</title>
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<creator xml:id="au19" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tiffany</givenNames>
<familyName>Massood</familyName>
<degrees>BS</degrees>
</personName>
</creator>
<creator xml:id="au20" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Karen W.</givenNames>
<familyName>Huskey</familyName>
<degrees>BA</degrees>
</personName>
</creator>
<creator xml:id="au21" creatorRole="author" affiliationRef="#af16"><personName><givenNames>Anita L.</givenNames>
<familyName>DeStefano</familyName>
<degrees>PhD</degrees>
</personName>
</creator>
<creator xml:id="au22" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Tammy</givenNames>
<familyName>Gillis</familyName>
<degrees>BS</degrees>
</personName>
</creator>
<creator xml:id="au23" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Jayalakshmi</givenNames>
<familyName>Mysore</familyName>
<degrees>BS</degrees>
</personName>
</creator>
<creator xml:id="au24" creatorRole="author" affiliationRef="#af17"><personName><givenNames>Stefano</givenNames>
<familyName>Goldwurm</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au25" creatorRole="author" affiliationRef="#af17"><personName><givenNames>Gianni</givenNames>
<familyName>Pezzoli</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au26" creatorRole="author" affiliationRef="#af18 #af19"><personName><givenNames>Kenneth B.</givenNames>
<familyName>Baker</familyName>
<degrees>PhD</degrees>
</personName>
</creator>
<creator xml:id="au27" creatorRole="author" affiliationRef="#af18 #af19"><personName><givenNames>Ilia</givenNames>
<familyName>Itin</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au28" creatorRole="author" affiliationRef="#af20"><personName><givenNames>Irene</givenNames>
<familyName>Litvan</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au29" creatorRole="author" affiliationRef="#af21"><personName><givenNames>Garth</givenNames>
<familyName>Nicholson</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au30" creatorRole="author" affiliationRef="#af21"><personName><givenNames>Alastair</givenNames>
<familyName>Corbett</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au31" creatorRole="author" affiliationRef="#af22"><personName><givenNames>Martha</givenNames>
<familyName>Nance</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au32" creatorRole="author" affiliationRef="#af23"><personName><givenNames>Edward</givenNames>
<familyName>Drasby</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au33" creatorRole="author" affiliationRef="#af24"><personName><givenNames>Stuart</givenNames>
<familyName>Isaacson</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au34" creatorRole="author" affiliationRef="#af25"><personName><givenNames>David J.</givenNames>
<familyName>Burn</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au35" creatorRole="author" affiliationRef="#af26"><personName><givenNames>Patrick F.</givenNames>
<familyName>Chinnery</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au36" creatorRole="author" affiliationRef="#af27"><personName><givenNames>Peter P.</givenNames>
<familyName>Pramstaller</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au37" creatorRole="author" affiliationRef="#af28"><personName><givenNames>Jomana</givenNames>
<familyName>Al‐Hinti</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au38" creatorRole="author" affiliationRef="#af29"><personName><givenNames>Anette T.</givenNames>
<familyName>Moller</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au39" creatorRole="author" affiliationRef="#af29"><personName><givenNames>Karen</givenNames>
<familyName>Ostergaard</familyName>
<degrees>MD, PhD</degrees>
</personName>
</creator>
<creator xml:id="au40" creatorRole="author" affiliationRef="#af30"><personName><givenNames>Scott J.</givenNames>
<familyName>Sherman</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au41" creatorRole="author" affiliationRef="#af31"><personName><givenNames>Richard</givenNames>
<familyName>Roxburgh</familyName>
<degrees>PhD</degrees>
</personName>
</creator>
<creator xml:id="au42" creatorRole="author" affiliationRef="#af31"><personName><givenNames>Barry</givenNames>
<familyName>Snow</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au43" creatorRole="author" affiliationRef="#af32"><personName><givenNames>John T.</givenNames>
<familyName>Slevin</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au44" creatorRole="author" affiliationRef="#af32"><personName><givenNames>Franca</givenNames>
<familyName>Cambi</familyName>
<degrees>MD</degrees>
</personName>
</creator>
<creator xml:id="au45" creatorRole="author" affiliationRef="#af2"><personName><givenNames>James F.</givenNames>
<familyName>Gusella</familyName>
<degrees>PhD</degrees>
</personName>
</creator>
<creator xml:id="au46" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Richard H.</givenNames>
<familyName>Myers</familyName>
<degrees>PhD</degrees>
</personName>
<contactDetails><email>rmyers@bu.edu</email>
</contactDetails>
</creator>
</creators>
<affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Southern California, Los Angeles, California, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af4" countryCode="CA" type="organization"><unparsedAffiliation>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af5" countryCode="CA" type="organization"><unparsedAffiliation>Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af6" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Medical University of Lübeck, Lübeck, Germany</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af9" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af10" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af11" countryCode="CA" type="organization"><unparsedAffiliation>Department of Medicine, University of Toronto, Toronto, Canada</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af12" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af13" countryCode="US" type="organization"><unparsedAffiliation>Barrow Neurological Institute, Phoenix, Arizona, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af14" countryCode="US" type="organization"><unparsedAffiliation>Sun Health Research Institute, Sun City, Arizona, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af15" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Miami, Miami, Florida, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af16" countryCode="US" type="organization"><unparsedAffiliation>Department of Biostatistics, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af17" countryCode="IT" type="organization"><unparsedAffiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af18" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af19" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af20" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Louisville School of Medicine, Louisville, Kentucky, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af21" countryCode="AU" type="organization"><unparsedAffiliation>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney, Australia</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af22" countryCode="US" type="organization"><unparsedAffiliation>Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, Minnesota, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af23" countryCode="US" type="organization"><unparsedAffiliation>Port City Neurology, Scarborough, Maine, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af24" countryCode="US" type="organization"><unparsedAffiliation>Parkinson's Disease and Movement Disorder Center of Boca Raton, Boca Raton, Florida, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af25" countryCode="GB" type="organization"><unparsedAffiliation>Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af26" countryCode="GB" type="organization"><unparsedAffiliation>Regional Neurosciences Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af27" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurology, General Regional Hospital Bolzano, Bolzano, Italy</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af28" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Arkansas for Medical Sciences, Arkansas, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af29" countryCode="DK" type="organization"><unparsedAffiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af30" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Arizona, Tucson, Arizona, USA</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af31" countryCode="NZ" type="organization"><unparsedAffiliation>Department of Neurology, Auckland City Hospital, Auckland, New Zealand</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af32" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky, USA</unparsedAffiliation>
</affiliation>
</affiliationGroup>
<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword>
<keyword xml:id="kwd2">Huntington's disease</keyword>
<keyword xml:id="kwd3">CAG repeat</keyword>
<keyword xml:id="kwd4">onset age</keyword>
<keyword xml:id="kwd5">genetics</keyword>
<keyword xml:id="kwd6">mitochondria</keyword>
</keywordGroup>
<fundingInfo><fundingAgency>PHS</fundingAgency>
<fundingNumber>R01 NS36711‐09</fundingNumber>
</fundingInfo>
<fundingInfo><fundingAgency>Genetic Linkage Study in PD</fundingAgency>
<fundingNumber>P50 NS16367‐27</fundingNumber>
</fundingInfo>
<fundingInfo><fundingAgency>Huntington disease Center without walls</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Huntington's Disease Society of America</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Huntington Society of Canada</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Hereditary Disease Foundation</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Massachusetts Huntington's Disease Society of America</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Coalition for the Cure of HDSA</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Bumpus Foundation</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Jerry MacDonald HD research fund</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Italian Telethon</fundingAgency>
<fundingNumber>n. GTB07001</fundingNumber>
</fundingInfo>
<fundingInfo><fundingAgency>Fondazione Grigioni per il Morbo di Parkinson</fundingAgency>
</fundingInfo>
<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (<i>HD</i>
) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the <i>HD</i>
CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the <i>HD</i>
CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 <i>LRRK2</i>
carriers. All cases had <i>HD</i>
CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the <i>HD</i>
CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society</p>
</abstract>
</abstractGroup>
</contentMeta>
<noteGroup><note xml:id="fn1"><p>No potential conflict of interest.</p>
</note>
</noteGroup>
</header>
</component>
</istex:document>
</istex:metadataXml>
<mods version="3.6"><titleInfo lang="en"><title>Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study</title>
</titleInfo>
<titleInfo type="abbreviated" lang="en"><title>HD CAG Repeat Does Not Modify Onset in Familial PD</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study</title>
</titleInfo>
<name type="personal"><namePart type="given">Christopher F.</namePart>
<namePart type="family">McNicoll</namePart>
<namePart type="termsOfAddress">BA</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jeanne C.</namePart>
<namePart type="family">Latourelle</namePart>
<namePart type="termsOfAddress">MS</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marcy E.</namePart>
<namePart type="family">MacDonald</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Mark F.</namePart>
<namePart type="family">Lew</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Southern California, Los Angeles, California, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Oksana</namePart>
<namePart type="family">Suchowersky</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada</affiliation>
<affiliation>Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Klein</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Medical University of Lübeck, Lübeck, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Lawrence I.</namePart>
<namePart type="family">Golbe</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Margery H.</namePart>
<namePart type="family">Mark</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">John H.</namePart>
<namePart type="family">Growdon</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">G. Frederick</namePart>
<namePart type="family">Wooten</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ray L.</namePart>
<namePart type="family">Watts</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Mark</namePart>
<namePart type="family">Guttman</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Medicine, University of Toronto, Toronto, Canada</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Brad A.</namePart>
<namePart type="family">Racette</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Joel S.</namePart>
<namePart type="family">Perlmutter</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anwar</namePart>
<namePart type="family">Ahmed</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Barrow Neurological Institute, Phoenix, Arizona, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Holly A.</namePart>
<namePart type="family">Shill</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Sun Health Research Institute, Sun City, Arizona, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Carlos</namePart>
<namePart type="family">Singer</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Miami, Miami, Florida, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marie H.</namePart>
<namePart type="family">Saint‐Hilaire</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Tiffany</namePart>
<namePart type="family">Massood</namePart>
<namePart type="termsOfAddress">BS</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Karen W.</namePart>
<namePart type="family">Huskey</namePart>
<namePart type="termsOfAddress">BA</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anita L.</namePart>
<namePart type="family">DeStefano</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Department of Biostatistics, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Tammy</namePart>
<namePart type="family">Gillis</namePart>
<namePart type="termsOfAddress">BS</namePart>
<affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jayalakshmi</namePart>
<namePart type="family">Mysore</namePart>
<namePart type="termsOfAddress">BS</namePart>
<affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stefano</namePart>
<namePart type="family">Goldwurm</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gianni</namePart>
<namePart type="family">Pezzoli</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano, Italy</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kenneth B.</namePart>
<namePart type="family">Baker</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation>
<affiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ilia</namePart>
<namePart type="family">Itin</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation>
<affiliation>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Irene</namePart>
<namePart type="family">Litvan</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Louisville School of Medicine, Louisville, Kentucky, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Garth</namePart>
<namePart type="family">Nicholson</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Alastair</namePart>
<namePart type="family">Corbett</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Martha</namePart>
<namePart type="family">Nance</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, Minnesota, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Edward</namePart>
<namePart type="family">Drasby</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Port City Neurology, Scarborough, Maine, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stuart</namePart>
<namePart type="family">Isaacson</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Parkinson's Disease and Movement Disorder Center of Boca Raton, Boca Raton, Florida, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">David J.</namePart>
<namePart type="family">Burn</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Patrick F.</namePart>
<namePart type="family">Chinnery</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Regional Neurosciences Centre, Newcastle University, Newcastle upon Tyne, United Kingdom</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Peter P.</namePart>
<namePart type="family">Pramstaller</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, General Regional Hospital Bolzano, Bolzano, Italy</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jomana</namePart>
<namePart type="family">Al‐Hinti</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Arkansas for Medical Sciences, Arkansas, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anette T.</namePart>
<namePart type="family">Moller</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Karen</namePart>
<namePart type="family">Ostergaard</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Scott J.</namePart>
<namePart type="family">Sherman</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Arizona, Tucson, Arizona, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Richard</namePart>
<namePart type="family">Roxburgh</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Department of Neurology, Auckland City Hospital, Auckland, New Zealand</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Barry</namePart>
<namePart type="family">Snow</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, Auckland City Hospital, Auckland, New Zealand</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">John T.</namePart>
<namePart type="family">Slevin</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Franca</namePart>
<namePart type="family">Cambi</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">James F.</namePart>
<namePart type="family">Gusella</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Richard H.</namePart>
<namePart type="family">Myers</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts, USA</affiliation>
<affiliation>715 Albany Street, E‐304, Boston University School of Medicine, Boston, Massachusetts 02118</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<typeOfResource>text</typeOfResource>
<genre type="article" displayLabel="article"></genre>
<originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place><placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2008-08-15</dateIssued>
<dateCaptured encoding="w3cdtf">2008-02-20</dateCaptured>
<dateValid encoding="w3cdtf">2008-05-23</dateValid>
<copyrightDate encoding="w3cdtf">2008</copyrightDate>
</originInfo>
<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
</language>
<physicalDescription><internetMediaType>text/html</internetMediaType>
<extent unit="figures">1</extent>
<extent unit="tables">3</extent>
<extent unit="references">33</extent>
<extent unit="words">3984</extent>
</physicalDescription>
<abstract lang="en">The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15–34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. © 2008 Movement Disorder Society</abstract>
<note type="content">*No potential conflict of interest.</note>
<note type="funding">PHS - No. R01 NS36711‐09; </note>
<note type="funding">Genetic Linkage Study in PD - No. P50 NS16367‐27; </note>
<note type="funding">Huntington disease Center without walls</note>
<note type="funding">Huntington's Disease Society of America</note>
<note type="funding">Huntington Society of Canada</note>
<note type="funding">Hereditary Disease Foundation</note>
<note type="funding">Massachusetts Huntington's Disease Society of America</note>
<note type="funding">Coalition for the Cure of HDSA</note>
<note type="funding">Bumpus Foundation</note>
<note type="funding">Jerry MacDonald HD research fund</note>
<note type="funding">Italian Telethon - No. n. GTB07001; </note>
<note type="funding">Fondazione Grigioni per il Morbo di Parkinson</note>
<subject lang="en"><genre>keywords</genre>
<topic>Parkinson's disease</topic>
<topic>Huntington's disease</topic>
<topic>CAG repeat</topic>
<topic>onset age</topic>
<topic>genetics</topic>
<topic>mitochondria</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated"><title>Mov. Disord.</title>
</titleInfo>
<genre type="journal">journal</genre>
<subject><genre>article-category</genre>
<topic>Research Article</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2008</date>
<detail type="volume"><caption>vol.</caption>
<number>23</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>11</number>
</detail>
<extent unit="pages"><start>1596</start>
<end>1601</end>
<total>6</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">5980BED5B19C4D0E0F2A4623B7EC7772A3ED9D41</identifier>
<identifier type="DOI">10.1002/mds.22186</identifier>
<identifier type="ArticleID">MDS22186</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition>
<recordInfo><recordContentSource>WILEY</recordContentSource>
<recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin>
</recordInfo>
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