PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study
Identifieur interne : 000B68 ( PascalFrancis/Corpus ); précédent : 000B67; suivant : 000B69PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study
Auteurs : Anita L. Destefano ; Mark F. Lew ; Lawrence I. Golbe ; Margery H. Mark ; Alice M. Lazzarini ; Mark Guttman ; Erwin Montgomery ; Cheryl H. Waters ; Carlos Singer ; Ray L. Watts ; Lillian J. Currie ; G. Frederick Wooten ; Nancy E. Maher ; Jemma B. Wilk ; Kristin M. Sullivan ; Karen M. Slater ; Marie H. Saint-Hilaire ; Robert G. Feldman ; Oksana Suchowersky ; Anne-Louise Lafontaine ; Nancy Labelle ; John H. Growdon ; Peter Vieregge ; Peter P. Pramstaller ; Christine Klein ; Jean P. Hubble ; Carson R. Reider ; Mark Stacy ; Marcy E. Macdonald ; James F. Gusella ; Richard H. MyersSource :
- American journal of human genetics [ 0002-9297 ] ; 2002.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P = .02).
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NO : | PASCAL 02-0419048 INIST |
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ET : | PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study |
AU : | DESTEFANO (Anita L.); LEW (Mark F.); GOLBE (Lawrence I.); MARK (Margery H.); LAZZARINI (Alice M.); GUTTMAN (Mark); MONTGOMERY (Erwin); WATERS (Cheryl H.); SINGER (Carlos); WATTS (Ray L.); CURRIE (Lillian J.); WOOTEN (G. Frederick); MAHER (Nancy E.); WILK (Jemma B.); SULLIVAN (Kristin M.); SLATER (Karen M.); SAINT-HILAIRE (Marie H.); FELDMAN (Robert G.); SUCHOWERSKY (Oksana); LAFONTAINE (Anne-Louise); LABELLE (Nancy); GROWDON (John H.); VIEREGGE (Peter); PRAMSTALLER (Peter P.); KLEIN (Christine); HUBBLE (Jean P.); REIDER (Carson R.); STACY (Mark); MACDONALD (Marcy E.); GUSELLA (James F.); MYERS (Richard H.) |
AF : | Department of Neurology, Boston University Schools of Medicine and of Public Health/Boston/Etats-Unis (1 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 18 aut., 31 aut.); Department of Biostatistics, Boston University Schools of Medicine and of Public Health/Boston/Etats-Unis (1 aut.); Department of Neurology, University of Southern California/Los Angeles/Etats-Unis (2 aut., 8 aut.); Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School/New Brunswick, NJ/Etats-Unis (3 aut., 4 aut., 5 aut.); Department of Medicine, University of Toronto/Toronto/Canada (6 aut.); Departments of Neurology and Neuroscience, Cleveland Clinic Foundation/Cleveland/Etats-Unis (7 aut.); Department of Neurology, University of Miami/Miami/Etats-Unis (9 aut.); Department of Neurology, Emory University School of Medicine/Atlanta/Etats-Unis (10 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, VA/Etats-Unis (11 aut., 12 aut.); Departments of Clinical Neurosciences and Medical Genetics, University of Calgary/Calgary/Canada (19 aut., 20 aut., 21 aut.); Department of Neurology, Massachusetts General Hospital, Harvard Medical School/Boston/Etats-Unis (22 aut., 29 aut., 30 aut.); Department of Neurology, Medical University of Lübeck/Lübeck/Allemagne (23 aut., 25 aut.); Department of Neurology, General Regional Hospital Bolzano/Bolzano/Italie (24 aut.); Department of Neurology, Ohio State University/Columbus, OH/Etats-Unis (26 aut., 27 aut.); Department of Neurology, Barrow Clinic/Phoenix/Etats-Unis (28 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | American journal of human genetics; ISSN 0002-9297; Coden AJHGAG; Etats-Unis; Da. 2002; Vol. 70; No. 5; Pp. 1089-1095; Bibl. 21 ref. |
LA : | Anglais |
EA : | Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P = .02). |
CC : | 002B17G |
FD : | Parkinson maladie; Caractère autosomique; Caractère récessif; Parkinsonisme; Précoce; Précocité; Variabilité; Age apparition; Idiopathique; Liaison génétique; Composante variance; Méthodologie; Génome; Tardif; Gène; Chromosome A2; Responsabilité; Population; Fratrie; Maximum; Chromosome A1 |
FG : | Extrapyramidal syndrome; Maladie dégénérative; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Génétique |
ED : | Parkinson disease; Autosomal character; Recessive character; Parkinsonism; Early; Earliness; Variability; Age of onset; Idiopathic; Linkage; Variance component; Methodology; Genome; Late; Gene; Chromosome A2; Responsibility; Population; Sibling; Maximum; Chromosome A1 |
EG : | Extrapyramidal syndrome; Degenerative disease; Nervous system diseases; Central nervous system disease; Cerebral disorder; Genetics |
SD : | Parkinson enfermedad; Carácter autosómico; Carácter recesivo; Parkinson síndrome; Precoz; Precocidad; Variabilidad; Edad aparición; Idiopático; Ligamiento genético; Componente variancia; Metodología; Genoma; Tardío; Gen; Cromosoma A2; Responsabilidad; Población; Hermandad; Máximo; Cromosoma A1 |
LO : | INIST-2610.354000107966480020 |
ID : | 02-0419048 |
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Pascal:02-0419048Le document en format XML
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<author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
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<author><name sortKey="Saint Hilaire, Marie H" sort="Saint Hilaire, Marie H" uniqKey="Saint Hilaire M" first="Marie H." last="Saint-Hilaire">Marie H. Saint-Hilaire</name>
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<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
<affiliation><inist:fA14 i1="10"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
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<author><name sortKey="Lafontaine, Anne Louise" sort="Lafontaine, Anne Louise" uniqKey="Lafontaine A" first="Anne-Louise" last="Lafontaine">Anne-Louise Lafontaine</name>
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<author><name sortKey="Labelle, Nancy" sort="Labelle, Nancy" uniqKey="Labelle N" first="Nancy" last="Labelle">Nancy Labelle</name>
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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>
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<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
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<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Medical University of Lübeck</s1>
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<author><name sortKey="Hubble, Jean P" sort="Hubble, Jean P" uniqKey="Hubble J" first="Jean P." last="Hubble">Jean P. Hubble</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, Ohio State University</s1>
<s2>Columbus, OH</s2>
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</author>
<author><name sortKey="Reider, Carson R" sort="Reider, Carson R" uniqKey="Reider C" first="Carson R." last="Reider">Carson R. Reider</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, Ohio State University</s1>
<s2>Columbus, OH</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
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<author><name sortKey="Stacy, Mark" sort="Stacy, Mark" uniqKey="Stacy M" first="Mark" last="Stacy">Mark Stacy</name>
<affiliation><inist:fA14 i1="15"><s1>Department of Neurology, Barrow Clinic</s1>
<s2>Phoenix</s2>
<s3>USA</s3>
<sZ>28 aut.</sZ>
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</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><inist:fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
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<author><name sortKey="Gusella, James F" sort="Gusella, James F" uniqKey="Gusella J" first="James F." last="Gusella">James F. Gusella</name>
<affiliation><inist:fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>22 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
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</author>
<author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H." last="Myers">Richard H. Myers</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
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<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study</title>
<author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L." last="Destefano">Anita L. Destefano</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Biostatistics, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="03"><s1>Department of Neurology, University of Southern California</s1>
<s2>Los Angeles</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="04"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, NJ</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="04"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, NJ</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lazzarini, Alice M" sort="Lazzarini, Alice M" uniqKey="Lazzarini A" first="Alice M." last="Lazzarini">Alice M. Lazzarini</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, NJ</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Medicine, University of Toronto</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Montgomery, Erwin" sort="Montgomery, Erwin" uniqKey="Montgomery E" first="Erwin" last="Montgomery">Erwin Montgomery</name>
<affiliation><inist:fA14 i1="06"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1>
<s2>Cleveland</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Waters, Cheryl H" sort="Waters, Cheryl H" uniqKey="Waters C" first="Cheryl H." last="Waters">Cheryl H. Waters</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, University of Southern California</s1>
<s2>Los Angeles</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurology, University of Miami</s1>
<s2>Miami</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="08"><s1>Department of Neurology, Emory University School of Medicine</s1>
<s2>Atlanta</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Currie, Lillian J" sort="Currie, Lillian J" uniqKey="Currie L" first="Lillian J." last="Currie">Lillian J. Currie</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, VA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="09"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, VA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Maher, Nancy E" sort="Maher, Nancy E" uniqKey="Maher N" first="Nancy E." last="Maher">Nancy E. Maher</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wilk, Jemma B" sort="Wilk, Jemma B" uniqKey="Wilk J" first="Jemma B." last="Wilk">Jemma B. Wilk</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sullivan, Kristin M" sort="Sullivan, Kristin M" uniqKey="Sullivan K" first="Kristin M." last="Sullivan">Kristin M. Sullivan</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Slater, Karen M" sort="Slater, Karen M" uniqKey="Slater K" first="Karen M." last="Slater">Karen M. Slater</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Saint Hilaire, Marie H" sort="Saint Hilaire, Marie H" uniqKey="Saint Hilaire M" first="Marie H." last="Saint-Hilaire">Marie H. Saint-Hilaire</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Feldman, Robert G" sort="Feldman, Robert G" uniqKey="Feldman R" first="Robert G." last="Feldman">Robert G. Feldman</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Suchowersky, Oksana" sort="Suchowersky, Oksana" uniqKey="Suchowersky O" first="Oksana" last="Suchowersky">Oksana Suchowersky</name>
<affiliation><inist:fA14 i1="10"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Calgary</s2>
<s3>CAN</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lafontaine, Anne Louise" sort="Lafontaine, Anne Louise" uniqKey="Lafontaine A" first="Anne-Louise" last="Lafontaine">Anne-Louise Lafontaine</name>
<affiliation><inist:fA14 i1="10"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Calgary</s2>
<s3>CAN</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Labelle, Nancy" sort="Labelle, Nancy" uniqKey="Labelle N" first="Nancy" last="Labelle">Nancy Labelle</name>
<affiliation><inist:fA14 i1="10"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Calgary</s2>
<s3>CAN</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>22 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Medical University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="13"><s1>Department of Neurology, General Regional Hospital Bolzano</s1>
<s2>Bolzano</s2>
<s3>ITA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Medical University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hubble, Jean P" sort="Hubble, Jean P" uniqKey="Hubble J" first="Jean P." last="Hubble">Jean P. Hubble</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, Ohio State University</s1>
<s2>Columbus, OH</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Reider, Carson R" sort="Reider, Carson R" uniqKey="Reider C" first="Carson R." last="Reider">Carson R. Reider</name>
<affiliation><inist:fA14 i1="14"><s1>Department of Neurology, Ohio State University</s1>
<s2>Columbus, OH</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Stacy, Mark" sort="Stacy, Mark" uniqKey="Stacy M" first="Mark" last="Stacy">Mark Stacy</name>
<affiliation><inist:fA14 i1="15"><s1>Department of Neurology, Barrow Clinic</s1>
<s2>Phoenix</s2>
<s3>USA</s3>
<sZ>28 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>22 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>22 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
</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><inist:fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
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</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Autosomal character</term>
<term>Chromosome A1</term>
<term>Chromosome A2</term>
<term>Earliness</term>
<term>Early</term>
<term>Gene</term>
<term>Genome</term>
<term>Idiopathic</term>
<term>Late</term>
<term>Linkage</term>
<term>Maximum</term>
<term>Methodology</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Population</term>
<term>Recessive character</term>
<term>Responsibility</term>
<term>Sibling</term>
<term>Variability</term>
<term>Variance component</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Caractère autosomique</term>
<term>Caractère récessif</term>
<term>Parkinsonisme</term>
<term>Précoce</term>
<term>Précocité</term>
<term>Variabilité</term>
<term>Age apparition</term>
<term>Idiopathique</term>
<term>Liaison génétique</term>
<term>Composante variance</term>
<term>Méthodologie</term>
<term>Génome</term>
<term>Tardif</term>
<term>Gène</term>
<term>Chromosome A2</term>
<term>Responsabilité</term>
<term>Population</term>
<term>Fratrie</term>
<term>Maximum</term>
<term>Chromosome A1</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P = .02).</div>
</front>
</TEI>
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<fA08 i1="01" i2="1" l="ENG"><s1>PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>DESTEFANO (Anita L.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>LEW (Mark F.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>GOLBE (Lawrence I.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>MARK (Margery H.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>LAZZARINI (Alice M.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>GUTTMAN (Mark)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MONTGOMERY (Erwin)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>WATERS (Cheryl H.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>SINGER (Carlos)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>WATTS (Ray L.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>CURRIE (Lillian J.)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>WOOTEN (G. Frederick)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>MAHER (Nancy E.)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>WILK (Jemma B.)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>SULLIVAN (Kristin M.)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>SLATER (Karen M.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>SAINT-HILAIRE (Marie H.)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>FELDMAN (Robert G.)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>SUCHOWERSKY (Oksana)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>LAFONTAINE (Anne-Louise)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>LABELLE (Nancy)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>GROWDON (John H.)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>VIEREGGE (Peter)</s1>
</fA11>
<fA11 i1="24" i2="1"><s1>PRAMSTALLER (Peter P.)</s1>
</fA11>
<fA11 i1="25" i2="1"><s1>KLEIN (Christine)</s1>
</fA11>
<fA11 i1="26" i2="1"><s1>HUBBLE (Jean P.)</s1>
</fA11>
<fA11 i1="27" i2="1"><s1>REIDER (Carson R.)</s1>
</fA11>
<fA11 i1="28" i2="1"><s1>STACY (Mark)</s1>
</fA11>
<fA11 i1="29" i2="1"><s1>MACDONALD (Marcy E.)</s1>
</fA11>
<fA11 i1="30" i2="1"><s1>GUSELLA (James F.)</s1>
</fA11>
<fA11 i1="31" i2="1"><s1>MYERS (Richard H.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>31 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Biostatistics, Boston University Schools of Medicine and of Public Health</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Neurology, University of Southern California</s1>
<s2>Los Angeles</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, NJ</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Medicine, University of Toronto</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1>
<s2>Cleveland</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology, University of Miami</s1>
<s2>Miami</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Neurology, Emory University School of Medicine</s1>
<s2>Atlanta</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, VA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1>
<s2>Calgary</s2>
<s3>CAN</s3>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1>
<s2>Boston</s2>
<s3>USA</s3>
<sZ>22 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Department of Neurology, Medical University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>23 aut.</sZ>
<sZ>25 aut.</sZ>
</fA14>
<fA14 i1="13"><s1>Department of Neurology, General Regional Hospital Bolzano</s1>
<s2>Bolzano</s2>
<s3>ITA</s3>
<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="14"><s1>Department of Neurology, Ohio State University</s1>
<s2>Columbus, OH</s2>
<s3>USA</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</fA14>
<fA14 i1="15"><s1>Department of Neurology, Barrow Clinic</s1>
<s2>Phoenix</s2>
<s3>USA</s3>
<sZ>28 aut.</sZ>
</fA14>
<fA20><s1>1089-1095</s1>
</fA20>
<fA21><s1>2002</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>2610</s2>
<s5>354000107966480020</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2002 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>21 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>02-0419048</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>American journal of human genetics</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P = .02).</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Caractère autosomique</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Autosomal character</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Carácter autosómico</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Caractère récessif</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Recessive character</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Carácter recesivo</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Précoce</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Early</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Precoz</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Précocité</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Earliness</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Precocidad</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Variabilité</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Variability</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Variabilidad</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Age apparition</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Age of onset</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Edad aparición</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Idiopathique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Idiopathic</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Idiopático</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>12</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Linkage</s0>
<s5>12</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Composante variance</s0>
<s5>14</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Variance component</s0>
<s5>14</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Componente variancia</s0>
<s5>14</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Méthodologie</s0>
<s5>15</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Methodology</s0>
<s5>15</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Metodología</s0>
<s5>15</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Génome</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Genome</s0>
<s5>17</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Genoma</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Tardif</s0>
<s5>18</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Late</s0>
<s5>18</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Tardío</s0>
<s5>18</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Gène</s0>
<s5>19</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>Gene</s0>
<s5>19</s5>
</fC03>
<fC03 i1="15" i2="X" l="SPA"><s0>Gen</s0>
<s5>19</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Chromosome A2</s0>
<s5>20</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>Chromosome A2</s0>
<s5>20</s5>
</fC03>
<fC03 i1="16" i2="X" l="SPA"><s0>Cromosoma A2</s0>
<s5>20</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Responsabilité</s0>
<s5>21</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Responsibility</s0>
<s5>21</s5>
</fC03>
<fC03 i1="17" i2="X" l="SPA"><s0>Responsabilidad</s0>
<s5>21</s5>
</fC03>
<fC03 i1="18" i2="X" l="FRE"><s0>Population</s0>
<s5>22</s5>
</fC03>
<fC03 i1="18" i2="X" l="ENG"><s0>Population</s0>
<s5>22</s5>
</fC03>
<fC03 i1="18" i2="X" l="SPA"><s0>Población</s0>
<s5>22</s5>
</fC03>
<fC03 i1="19" i2="X" l="FRE"><s0>Fratrie</s0>
<s5>23</s5>
</fC03>
<fC03 i1="19" i2="X" l="ENG"><s0>Sibling</s0>
<s5>23</s5>
</fC03>
<fC03 i1="19" i2="X" l="SPA"><s0>Hermandad</s0>
<s5>23</s5>
</fC03>
<fC03 i1="20" i2="X" l="FRE"><s0>Maximum</s0>
<s5>24</s5>
</fC03>
<fC03 i1="20" i2="X" l="ENG"><s0>Maximum</s0>
<s5>24</s5>
</fC03>
<fC03 i1="20" i2="X" l="SPA"><s0>Máximo</s0>
<s5>24</s5>
</fC03>
<fC03 i1="21" i2="X" l="FRE"><s0>Chromosome A1</s0>
<s5>35</s5>
</fC03>
<fC03 i1="21" i2="X" l="ENG"><s0>Chromosome A1</s0>
<s5>35</s5>
</fC03>
<fC03 i1="21" i2="X" l="SPA"><s0>Cromosoma A1</s0>
<s5>35</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Génétique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Genetics</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Genética</s0>
<s5>42</s5>
</fC07>
<fN21><s1>238</s1>
</fN21>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0419048 INIST</NO>
<ET>PARK3 influences age at onset in parkinson disease: A genome scan in the GenePD study</ET>
<AU>DESTEFANO (Anita L.); LEW (Mark F.); GOLBE (Lawrence I.); MARK (Margery H.); LAZZARINI (Alice M.); GUTTMAN (Mark); MONTGOMERY (Erwin); WATERS (Cheryl H.); SINGER (Carlos); WATTS (Ray L.); CURRIE (Lillian J.); WOOTEN (G. Frederick); MAHER (Nancy E.); WILK (Jemma B.); SULLIVAN (Kristin M.); SLATER (Karen M.); SAINT-HILAIRE (Marie H.); FELDMAN (Robert G.); SUCHOWERSKY (Oksana); LAFONTAINE (Anne-Louise); LABELLE (Nancy); GROWDON (John H.); VIEREGGE (Peter); PRAMSTALLER (Peter P.); KLEIN (Christine); HUBBLE (Jean P.); REIDER (Carson R.); STACY (Mark); MACDONALD (Marcy E.); GUSELLA (James F.); MYERS (Richard H.)</AU>
<AF>Department of Neurology, Boston University Schools of Medicine and of Public Health/Boston/Etats-Unis (1 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 18 aut., 31 aut.); Department of Biostatistics, Boston University Schools of Medicine and of Public Health/Boston/Etats-Unis (1 aut.); Department of Neurology, University of Southern California/Los Angeles/Etats-Unis (2 aut., 8 aut.); Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School/New Brunswick, NJ/Etats-Unis (3 aut., 4 aut., 5 aut.); Department of Medicine, University of Toronto/Toronto/Canada (6 aut.); Departments of Neurology and Neuroscience, Cleveland Clinic Foundation/Cleveland/Etats-Unis (7 aut.); Department of Neurology, University of Miami/Miami/Etats-Unis (9 aut.); Department of Neurology, Emory University School of Medicine/Atlanta/Etats-Unis (10 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, VA/Etats-Unis (11 aut., 12 aut.); Departments of Clinical Neurosciences and Medical Genetics, University of Calgary/Calgary/Canada (19 aut., 20 aut., 21 aut.); Department of Neurology, Massachusetts General Hospital, Harvard Medical School/Boston/Etats-Unis (22 aut., 29 aut., 30 aut.); Department of Neurology, Medical University of Lübeck/Lübeck/Allemagne (23 aut., 25 aut.); Department of Neurology, General Regional Hospital Bolzano/Bolzano/Italie (24 aut.); Department of Neurology, Ohio State University/Columbus, OH/Etats-Unis (26 aut., 27 aut.); Department of Neurology, Barrow Clinic/Phoenix/Etats-Unis (28 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>American journal of human genetics; ISSN 0002-9297; Coden AJHGAG; Etats-Unis; Da. 2002; Vol. 70; No. 5; Pp. 1089-1095; Bibl. 21 ref.</SO>
<LA>Anglais</LA>
<EA>Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P = .02).</EA>
<CC>002B17G</CC>
<FD>Parkinson maladie; Caractère autosomique; Caractère récessif; Parkinsonisme; Précoce; Précocité; Variabilité; Age apparition; Idiopathique; Liaison génétique; Composante variance; Méthodologie; Génome; Tardif; Gène; Chromosome A2; Responsabilité; Population; Fratrie; Maximum; Chromosome A1</FD>
<FG>Extrapyramidal syndrome; Maladie dégénérative; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Génétique</FG>
<ED>Parkinson disease; Autosomal character; Recessive character; Parkinsonism; Early; Earliness; Variability; Age of onset; Idiopathic; Linkage; Variance component; Methodology; Genome; Late; Gene; Chromosome A2; Responsibility; Population; Sibling; Maximum; Chromosome A1</ED>
<EG>Extrapyramidal syndrome; Degenerative disease; Nervous system diseases; Central nervous system disease; Cerebral disorder; Genetics</EG>
<SD>Parkinson enfermedad; Carácter autosómico; Carácter recesivo; Parkinson síndrome; Precoz; Precocidad; Variabilidad; Edad aparición; Idiopático; Ligamiento genético; Componente variancia; Metodología; Genoma; Tardío; Gen; Cromosoma A2; Responsabilidad; Población; Hermandad; Máximo; Cromosoma A1</SD>
<LO>INIST-2610.354000107966480020</LO>
<ID>02-0419048</ID>
</server>
</inist>
</record>
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