Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
Identifieur interne : 000D77 ( Main/Exploration ); précédent : 000D76; suivant : 000D78Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
Auteurs : Christopher F. Mcnicoll [États-Unis] ; Jeanne C. Latourelle [États-Unis] ; Marcy E. Macdonald [États-Unis] ; Mark F. Lew [États-Unis] ; Oksana Suchowersky [Canada] ; Christine Klein [Allemagne] ; Lawrence I. Golbe [États-Unis] ; Margery H. Mark [États-Unis] ; John H. Growdon [États-Unis] ; G. Frederick Wooten [États-Unis] ; Ray L. Watts [États-Unis] ; Mark Guttman [Canada] ; Brad A. Racette [États-Unis] ; Joel S. Perlmutter [États-Unis] ; Anwar Ahmed [États-Unis] ; Holly A. Shill [États-Unis] ; Carlos Singer [États-Unis] ; Marie H. Saint-Hilaire [États-Unis] ; Tiffany Massood [États-Unis] ; Karen W. Huskey [États-Unis] ; Anita L. Destefano [États-Unis] ; Tammy Gillis [États-Unis] ; Jayalakshmi Mysore [États-Unis] ; Stefano Goldwurm [Italie] ; Gianni Pezzoli [Italie] ; Kenneth B. Baker [États-Unis] ; Ilia Itin [États-Unis] ; Irene Litvan [États-Unis] ; Garth Nicholson [Australie] ; Alastair Corbett [Australie] ; Martha Nance [États-Unis] ; Edward Drasby [États-Unis] ; Stuart Isaacson [États-Unis] ; David J. Burn [Royaume-Uni] ; Patrick F. Chinnery [Royaume-Uni] ; Peter P. Pramstaller [Italie] ; Jomana Al-Hinti [États-Unis] ; Anette T. Moller [Danemark] ; Karen Ostergaard [Danemark] ; Scott J. Sherman [États-Unis] ; Richard Roxburgh [Nouvelle-Zélande] ; Barry Snow [Nouvelle-Zélande] ; John T. Slevin [États-Unis] ; Franca Cambi [États-Unis] ; James F. Gusella [États-Unis] ; Richard H. Myers [États-Unis]Source :
- 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
Affiliations:
- Allemagne, Australie, Canada, Danemark, Italie, Nouvelle-Zélande, Royaume-Uni, États-Unis
- Alabama, Alberta, Arizona, Arkansas, Californie, Floride, Kentucky, Maine (État), Massachusetts, Minnesota, Missouri (État), New Jersey, Ohio, Ontario, Virginie
- Calgary, Los Angeles, Saint-Louis (Missouri), Sydney, Toronto
- Université de Calgary, Université de Californie du Sud, Université de Toronto, École de médecine (Université Washington de Saint-Louis)
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Macdonald</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Southern California, Los Angeles, California</wicri:regionArea><placeName><region type="state">Californie</region><settlement type="city">Los Angeles</settlement></placeName><orgName type="university">Université de Californie du Sud</orgName></affiliation></author><author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of Calgary, Calgary, Alberta</wicri:regionArea><orgName type="university">Université de Calgary</orgName><placeName><settlement type="city">Calgary</settlement><region type="state">Alberta</region></placeName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Medicine and Dentistry of New Jersey‐Robert Wood Johnson Medical School, New Brunswick, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medicine, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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 wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></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 wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Ahmed, Anwar" sort="Ahmed, Anwar" uniqKey="Ahmed A" first="Anwar" last="Ahmed">Anwar Ahmed</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Barrow Neurological Institute, Phoenix, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Sun Health Research Institute, Sun City, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Miami, Miami, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Massood, Tiffany" sort="Massood, Tiffany" uniqKey="Massood T" first="Tiffany" last="Massood">Tiffany Massood</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics, Boston University School of Medicine, Boston University, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gillis, Tammy" sort="Gillis, Tammy" uniqKey="Gillis T" first="Tammy" last="Gillis">Tammy Gillis</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Mysore, Jayalakshmi" sort="Mysore, Jayalakshmi" uniqKey="Mysore J" first="Jayalakshmi" last="Mysore">Jayalakshmi Mysore</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Parkinson Institute, Istituti Clinici di Perfezionamento, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></affiliation></author><author><name sortKey="Baker, Kenneth B" sort="Baker, Kenneth B" uniqKey="Baker K" first="Kenneth B." last="Baker">Kenneth B. Baker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Itin, Ilia" sort="Itin, Ilia" uniqKey="Itin I" first="Ilia" last="Itin">Ilia Itin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Cleveland Clinic Foundation, Cleveland, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Litvan, Irene" sort="Litvan, Irene" uniqKey="Litvan I" first="Irene" last="Litvan">Irene Litvan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Louisville School of Medicine, Louisville, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Corbett, Alastair" sort="Corbett, Alastair" uniqKey="Corbett A" first="Alastair" last="Corbett">Alastair Corbett</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Neurology Department, University of Sydney ANZAC Research Institute, Concord Hospital, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement></placeName></affiliation></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Struthers Parkinson's Center, Park Nicollet Clinic, Golden Valley, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Drasby, Edward" sort="Drasby, Edward" uniqKey="Drasby E" first="Edward" last="Drasby">Edward Drasby</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Port City Neurology, Scarborough, Maine</wicri:regionArea><placeName><region type="state">Maine (État)</region></placeName></affiliation></author><author><name sortKey="Isaacson, Stuart" sort="Isaacson, Stuart" uniqKey="Isaacson S" first="Stuart" last="Isaacson">Stuart Isaacson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorder Center of Boca Raton, Boca Raton, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Regional Neurosciences Centre, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital Bolzano, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Arkansas for Medical Sciences, Arkansas</wicri:regionArea><placeName><region type="state">Arkansas</region></placeName></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 wicri:level="1"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Ostergaard, Karen" sort="Ostergaard, Karen" uniqKey="Ostergaard K" first="Karen" last="Ostergaard">Karen Ostergaard</name><affiliation wicri:level="1"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name><affiliation wicri:level="1"><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Neurology, Auckland City Hospital, Auckland</wicri:regionArea><wicri:noRegion>Auckland</wicri:noRegion></affiliation></author><author><name sortKey="Snow, Barry" sort="Snow, Barry" uniqKey="Snow B" first="Barry" last="Snow">Barry Snow</name><affiliation wicri:level="1"><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Department of Neurology, Auckland City Hospital, Auckland</wicri:regionArea><wicri:noRegion>Auckland</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Cambi, Franca" sort="Cambi, Franca" uniqKey="Cambi F" first="Franca" last="Cambi">Franca Cambi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University School of Medicine, Boston University, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-08-15">2008-08-15</date><biblScope unit="volume">23</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1596">1596</biblScope><biblScope unit="page" to="1601">1601</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5980BED5B19C4D0E0F2A4623B7EC7772A3ED9D41</idno><idno type="DOI">10.1002/mds.22186</idno><idno type="ArticleID">MDS22186</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CAG repeat</term><term>Huntington's disease</term><term>Parkinson's disease</term><term>genetics</term><term>mitochondria</term><term>onset age</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>Danemark</li><li>Italie</li><li>Nouvelle-Zélande</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Alabama</li><li>Alberta</li><li>Arizona</li><li>Arkansas</li><li>Californie</li><li>Floride</li><li>Kentucky</li><li>Maine (État)</li><li>Massachusetts</li><li>Minnesota</li><li>Missouri (État)</li><li>New Jersey</li><li>Ohio</li><li>Ontario</li><li>Virginie</li></region><settlement><li>Calgary</li><li>Los Angeles</li><li>Saint-Louis (Missouri)</li><li>Sydney</li><li>Toronto</li></settlement><orgName><li>Université de Calgary</li><li>Université de Californie du Sud</li><li>Université de Toronto</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Mcnicoll, Christopher F" sort="Mcnicoll, Christopher F" uniqKey="Mcnicoll C" first="Christopher F." last="Mcnicoll">Christopher F. Mcnicoll</name></region><name sortKey="Ahmed, Anwar" sort="Ahmed, Anwar" uniqKey="Ahmed A" first="Anwar" last="Ahmed">Anwar Ahmed</name><name sortKey="Al Inti, Jomana" sort="Al Inti, Jomana" uniqKey="Al Inti J" first="Jomana" last="Al-Hinti">Jomana Al-Hinti</name><name sortKey="Baker, Kenneth B" sort="Baker, Kenneth B" uniqKey="Baker K" first="Kenneth B." last="Baker">Kenneth B. Baker</name><name sortKey="Baker, Kenneth B" sort="Baker, Kenneth B" uniqKey="Baker K" first="Kenneth B." last="Baker">Kenneth B. Baker</name><name sortKey="Cambi, Franca" sort="Cambi, Franca" uniqKey="Cambi F" first="Franca" last="Cambi">Franca Cambi</name><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L." last="Destefano">Anita L. Destefano</name><name sortKey="Drasby, Edward" sort="Drasby, Edward" uniqKey="Drasby E" first="Edward" last="Drasby">Edward Drasby</name><name sortKey="Gillis, Tammy" sort="Gillis, Tammy" uniqKey="Gillis T" first="Tammy" last="Gillis">Tammy Gillis</name><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name><name sortKey="Growdon, John H" sort="Growdon, John H" uniqKey="Growdon J" first="John H." last="Growdon">John H. Growdon</name><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F." last="Gusella">James F. Gusella</name><name sortKey="Huskey, Karen W" sort="Huskey, Karen W" uniqKey="Huskey K" first="Karen W." last="Huskey">Karen W. 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Mark</name><name sortKey="Massood, Tiffany" sort="Massood, Tiffany" uniqKey="Massood T" first="Tiffany" last="Massood">Tiffany Massood</name><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H." last="Myers">Richard H. Myers</name><name sortKey="Mysore, Jayalakshmi" sort="Mysore, Jayalakshmi" uniqKey="Mysore J" first="Jayalakshmi" last="Mysore">Jayalakshmi Mysore</name><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name><name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name><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><name sortKey="Sherman, Scott J" sort="Sherman, Scott J" uniqKey="Sherman S" first="Scott J." last="Sherman">Scott J. Sherman</name><name sortKey="Shill, Holly A" sort="Shill, Holly A" uniqKey="Shill H" first="Holly A." last="Shill">Holly A. Shill</name><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name><name sortKey="Slevin, John T" sort="Slevin, John T" uniqKey="Slevin J" first="John T." last="Slevin">John T. Slevin</name><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L." last="Watts">Ray L. Watts</name><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name></country><country name="Canada"><region name="Alberta"><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name></region><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name></country><country name="Allemagne"><noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name></noRegion><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. 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Moller</name></noRegion><name sortKey="Ostergaard, Karen" sort="Ostergaard, Karen" uniqKey="Ostergaard K" first="Karen" last="Ostergaard">Karen Ostergaard</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name></noRegion><name sortKey="Snow, Barry" sort="Snow, Barry" uniqKey="Snow B" first="Barry" last="Snow">Barry Snow</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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