Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study
Identifieur interne : 000877 ( PascalFrancis/Corpus ); précédent : 000876; suivant : 000878Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study
Auteurs : Samer Karamohamed ; L. I. Golbe ; M. H. Mark ; A. M. Lazzarini ; O. Suchowersky ; N. Labelle ; Mark Guttman ; L. J. Currie ; G. F. Wooten ; M. Stacy ; M. Saint-Hilaire ; R. G. Feldman ; J. Liu ; C. M. Shoemaker ; J. B. Wilk ; A. L. Destefano ; J. C. Latourelle ; G. Xu ; R. Watts ; J. Growdon ; M. Lew ; C. Waters ; P. Vieregge ; P. P. Pramstaller ; C. Klein ; B. A. Racette ; J. S. Perlmutter ; A. Parsian ; Carlos Singer ; E. Montgomery ; K. Baker ; J. F. Gusella ; A. Herbert ; R. H. MyersSource :
- Movement disorders [ 0885-3185 ] ; 2005.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.
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Format Inist (serveur)
| NO : | PASCAL 05-0492892 INIST |
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| ET : | Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study |
| AU : | KARAMOHAMED (Samer); GOLBE (L. I.); MARK (M. H.); LAZZARINI (A. M.); SUCHOWERSKY (O.); LABELLE (N.); GUTTMAN (Mark); CURRIE (L. J.); WOOTEN (G. F.); STACY (M.); SAINT-HILAIRE (M.); FELDMAN (R. G.); LIU (J.); SHOEMAKER (C. M.); WILK (J. B.); DESTEFANO (A. L.); LATOURELLE (J. C.); XU (G.); WATTS (R.); GROWDON (J.); LEW (M.); WATERS (C.); VIEREGGE (P.); PRAMSTALLER (P. P.); KLEIN (C.); RACETTE (B. A.); PERLMUTTER (J. S.); PARSIAN (A.); SINGER (Carlos); MONTGOMERY (E.); BAKER (K.); GUSELLA (J. F.); HERBERT (A.); MYERS (R. H.) |
| AF : | Department of Neurology, Boston University School of Medicine/Boston. Massachusetts/Etats-Unis (1 aut., 11 aut., 12 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 18 aut., 33 aut., 34 aut.); Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School/New Brunswick, New Jersey/Etats-Unis (2 aut., 3 aut., 4 aut.); Departments of Clinical Neurosciences and Medical Genetics, University of Calgary/Calgary, Alberta/Canada (5 aut., 6 aut.); Division of Neurology, Department of Medicine, University of Toronto/Toronto/Canada (7 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, Virginia/Etats-Unis (8 aut., 9 aut.); Department of Neurology, Barrow Clinic/Phoenix, Arizona/Etats-Unis (10 aut.); Department of Neurology, Emory University/Atlanta, Georgia/Etats-Unis (19 aut.); Department of Neurology, Massachusetts General Hospital, Harvard Medical School/Boston, Massachusetts/Etats-Unis (20 aut.); Department of Neurology, University of Southern California/Los Angeles, California/Etats-Unis (21 aut., 22 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, Washington University School of Medicine/Saint Louis, Missouri/Etats-Unis (26 aut., 27 aut., 28 aut.); Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center/Louisville, Kentucky/Etats-Unis (28 aut.); Department of Neurology, University of Miami/Miami, Florida/Etats-Unis (29 aut.); Departments of Neurology and Neuroscience, Cleveland Clinic Foundation/Cleveland, Ohio/Etats-Unis (30 aut., 31 aut.); Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School/Boston, Massachusetts/Etats-Unis (32 aut.) |
| DT : | Publication en série; Courte communication, note brève; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 9; Pp. 1188-1191; Bibl. 10 ref. |
| LA : | Anglais |
| EA : | Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study. |
| CC : | 002B17; 002B17G; 002B17A03 |
| FD : | Système nerveux pathologie; Parkinson maladie; Maladie familiale; Facteur risque |
| FG : | Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie |
| ED : | Nervous system diseases; Parkinson disease; Familial disease; Risk factor |
| EG : | Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease |
| SD : | Sistema nervioso patología; Parkinson enfermedad; Enfermedad familiar; Factor riesgo |
| LO : | INIST-20953.354000131936030140 |
| ID : | 05-0492892 |
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Pascal:05-0492892Le document en format XML
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Golbe</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M. H." last="Mark">M. H. Mark</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A. M." last="Lazzarini">A. M. 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Labelle</name><affiliation><inist:fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>5 aut.</sZ><sZ>6 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="04"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name><affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1><s2>Charlottesville, Virginia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name><affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1><s2>Charlottesville, Virginia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Barrow Clinic</s1><s2>Phoenix, Arizona</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Saint Hilaire, M" sort="Saint Hilaire, M" uniqKey="Saint Hilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J." last="Liu">J. Liu</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Latourelle, J C" sort="Latourelle, J C" uniqKey="Latourelle J" first="J. C." last="Latourelle">J. C. Latourelle</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name><affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name><affiliation><inist:fA14 i1="08"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name><affiliation><inist:fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name><affiliation><inist:fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name><affiliation><inist:fA14 i1="10"><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, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name><affiliation><inist:fA14 i1="11"><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, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation><inist:fA14 i1="10"><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="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="13"><s1>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center</s1><s2>Louisville, Kentucky</s2><s3>USA</s3><sZ>28 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="14"><s1>Department of Neurology, University of Miami</s1><s2>Miami, Florida</s2><s3>USA</s3><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name><affiliation><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name><affiliation><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name><affiliation><inist:fA14 i1="16"><s1>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>32 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">05-0492892</idno><date when="2005">2005</date><idno type="stanalyst">PASCAL 05-0492892 INIST</idno><idno type="RBID">Pascal:05-0492892</idno><idno type="wicri:Area/PascalFrancis/Corpus">000877</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study</title><author><name sortKey="Karamohamed, Samer" sort="Karamohamed, Samer" uniqKey="Karamohamed S" first="Samer" last="Karamohamed">Samer Karamohamed</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Golbe, L I" sort="Golbe, L I" uniqKey="Golbe L" first="L. I." last="Golbe">L. I. Golbe</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Mark, M H" sort="Mark, M H" uniqKey="Mark M" first="M. H." last="Mark">M. H. Mark</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lazzarini, A M" sort="Lazzarini, A M" uniqKey="Lazzarini A" first="A. M." last="Lazzarini">A. M. Lazzarini</name><affiliation><inist:fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Suchowersky, O" sort="Suchowersky, O" uniqKey="Suchowersky O" first="O." last="Suchowersky">O. Suchowersky</name><affiliation><inist:fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Labelle, N" sort="Labelle, N" uniqKey="Labelle N" first="N." last="Labelle">N. Labelle</name><affiliation><inist:fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>5 aut.</sZ><sZ>6 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="04"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>7 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Currie, L J" sort="Currie, L J" uniqKey="Currie L" first="L. J." last="Currie">L. J. Currie</name><affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1><s2>Charlottesville, Virginia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wooten, G F" sort="Wooten, G F" uniqKey="Wooten G" first="G. F." last="Wooten">G. F. Wooten</name><affiliation><inist:fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1><s2>Charlottesville, Virginia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Stacy, M" sort="Stacy, M" uniqKey="Stacy M" first="M." last="Stacy">M. Stacy</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Barrow Clinic</s1><s2>Phoenix, Arizona</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Saint Hilaire, M" sort="Saint Hilaire, M" uniqKey="Saint Hilaire M" first="M." last="Saint-Hilaire">M. Saint-Hilaire</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Feldman, R G" sort="Feldman, R G" uniqKey="Feldman R" first="R. G." last="Feldman">R. G. Feldman</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J." last="Liu">J. Liu</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Shoemaker, C M" sort="Shoemaker, C M" uniqKey="Shoemaker C" first="C. M." last="Shoemaker">C. M. Shoemaker</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wilk, J B" sort="Wilk, J B" uniqKey="Wilk J" first="J. B." last="Wilk">J. B. Wilk</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Destefano, A L" sort="Destefano, A L" uniqKey="Destefano A" first="A. L." last="Destefano">A. L. Destefano</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Latourelle, J C" sort="Latourelle, J C" uniqKey="Latourelle J" first="J. C." last="Latourelle">J. C. Latourelle</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Xu, G" sort="Xu, G" uniqKey="Xu G" first="G." last="Xu">G. Xu</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Watts, R" sort="Watts, R" uniqKey="Watts R" first="R." last="Watts">R. Watts</name><affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Growdon, J" sort="Growdon, J" uniqKey="Growdon J" first="J." last="Growdon">J. Growdon</name><affiliation><inist:fA14 i1="08"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>20 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Lew, M" sort="Lew, M" uniqKey="Lew M" first="M." last="Lew">M. Lew</name><affiliation><inist:fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Waters, C" sort="Waters, C" uniqKey="Waters C" first="C." last="Waters">C. Waters</name><affiliation><inist:fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Vieregge, P" sort="Vieregge, P" uniqKey="Vieregge P" first="P." last="Vieregge">P. Vieregge</name><affiliation><inist:fA14 i1="10"><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, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name><affiliation><inist:fA14 i1="11"><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, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation><inist:fA14 i1="10"><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="Racette, B A" sort="Racette, B A" uniqKey="Racette B" first="B. A." last="Racette">B. A. Racette</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Perlmutter, J S" sort="Perlmutter, J S" uniqKey="Perlmutter J" first="J. S." last="Perlmutter">J. S. Perlmutter</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Parsian, A" sort="Parsian, A" uniqKey="Parsian A" first="A." last="Parsian">A. Parsian</name><affiliation><inist:fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="13"><s1>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center</s1><s2>Louisville, Kentucky</s2><s3>USA</s3><sZ>28 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="14"><s1>Department of Neurology, University of Miami</s1><s2>Miami, Florida</s2><s3>USA</s3><sZ>29 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Montgomery, E" sort="Montgomery, E" uniqKey="Montgomery E" first="E." last="Montgomery">E. Montgomery</name><affiliation><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Baker, K" sort="Baker, K" uniqKey="Baker K" first="K." last="Baker">K. Baker</name><affiliation><inist:fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gusella, J F" sort="Gusella, J F" uniqKey="Gusella J" first="J. F." last="Gusella">J. F. Gusella</name><affiliation><inist:fA14 i1="16"><s1>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>32 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Herbert, A" sort="Herbert, A" uniqKey="Herbert A" first="A." last="Herbert">A. Herbert</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Myers, R H" sort="Myers, R H" uniqKey="Myers R" first="R. H." last="Myers">R. H. Myers</name><affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></inist:fA14></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Risk factor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinson maladie</term><term>Maladie familiale</term><term>Facteur risque</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>20</s2></fA05><fA06><s2>9</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study</s1></fA08><fA11 i1="01" i2="1"><s1>KARAMOHAMED (Samer)</s1></fA11><fA11 i1="02" i2="1"><s1>GOLBE (L. I.)</s1></fA11><fA11 i1="03" i2="1"><s1>MARK (M. H.)</s1></fA11><fA11 i1="04" i2="1"><s1>LAZZARINI (A. M.)</s1></fA11><fA11 i1="05" i2="1"><s1>SUCHOWERSKY (O.)</s1></fA11><fA11 i1="06" i2="1"><s1>LABELLE (N.)</s1></fA11><fA11 i1="07" i2="1"><s1>GUTTMAN (Mark)</s1></fA11><fA11 i1="08" i2="1"><s1>CURRIE (L. J.)</s1></fA11><fA11 i1="09" i2="1"><s1>WOOTEN (G. F.)</s1></fA11><fA11 i1="10" i2="1"><s1>STACY (M.)</s1></fA11><fA11 i1="11" i2="1"><s1>SAINT-HILAIRE (M.)</s1></fA11><fA11 i1="12" i2="1"><s1>FELDMAN (R. G.)</s1></fA11><fA11 i1="13" i2="1"><s1>LIU (J.)</s1></fA11><fA11 i1="14" i2="1"><s1>SHOEMAKER (C. M.)</s1></fA11><fA11 i1="15" i2="1"><s1>WILK (J. B.)</s1></fA11><fA11 i1="16" i2="1"><s1>DESTEFANO (A. L.)</s1></fA11><fA11 i1="17" i2="1"><s1>LATOURELLE (J. C.)</s1></fA11><fA11 i1="18" i2="1"><s1>XU (G.)</s1></fA11><fA11 i1="19" i2="1"><s1>WATTS (R.)</s1></fA11><fA11 i1="20" i2="1"><s1>GROWDON (J.)</s1></fA11><fA11 i1="21" i2="1"><s1>LEW (M.)</s1></fA11><fA11 i1="22" i2="1"><s1>WATERS (C.)</s1></fA11><fA11 i1="23" i2="1"><s1>VIEREGGE (P.)</s1></fA11><fA11 i1="24" i2="1"><s1>PRAMSTALLER (P. P.)</s1></fA11><fA11 i1="25" i2="1"><s1>KLEIN (C.)</s1></fA11><fA11 i1="26" i2="1"><s1>RACETTE (B. A.)</s1></fA11><fA11 i1="27" i2="1"><s1>PERLMUTTER (J. S.)</s1></fA11><fA11 i1="28" i2="1"><s1>PARSIAN (A.)</s1></fA11><fA11 i1="29" i2="1"><s1>SINGER (Carlos)</s1></fA11><fA11 i1="30" i2="1"><s1>MONTGOMERY (E.)</s1></fA11><fA11 i1="31" i2="1"><s1>BAKER (K.)</s1></fA11><fA11 i1="32" i2="1"><s1>GUSELLA (J. F.)</s1></fA11><fA11 i1="33" i2="1"><s1>HERBERT (A.)</s1></fA11><fA11 i1="34" i2="1"><s1>MYERS (R. H.)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston. Massachusetts</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ><sZ>12 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>33 aut.</sZ><sZ>34 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School</s1><s2>New Brunswick, New Jersey</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="03"><s1>Departments of Clinical Neurosciences and Medical Genetics, University of Calgary</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="04"><s1>Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>7 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, University of Virginia Health System</s1><s2>Charlottesville, Virginia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Barrow Clinic</s1><s2>Phoenix, Arizona</s2><s3>USA</s3><sZ>10 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Emory University</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>19 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Neurology, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>20 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurology, University of Southern California</s1><s2>Los Angeles, California</s2><s3>USA</s3><sZ>21 aut.</sZ><sZ>22 aut.</sZ></fA14><fA14 i1="10"><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="11"><s1>Department of Neurology, General Regional Hospital Bolzano</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>24 aut.</sZ></fA14><fA14 i1="12"><s1>Department of Neurology, Washington University School of Medicine</s1><s2>Saint Louis, Missouri</s2><s3>USA</s3><sZ>26 aut.</sZ><sZ>27 aut.</sZ><sZ>28 aut.</sZ></fA14><fA14 i1="13"><s1>Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center</s1><s2>Louisville, Kentucky</s2><s3>USA</s3><sZ>28 aut.</sZ></fA14><fA14 i1="14"><s1>Department of Neurology, University of Miami</s1><s2>Miami, Florida</s2><s3>USA</s3><sZ>29 aut.</sZ></fA14><fA14 i1="15"><s1>Departments of Neurology and Neuroscience, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio</s2><s3>USA</s3><sZ>30 aut.</sZ><sZ>31 aut.</sZ></fA14><fA14 i1="16"><s1>Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>32 aut.</sZ></fA14><fA20><s1>1188-1191</s1></fA20><fA21><s1>2005</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000131936030140</s5></fA43><fA44><s0>0000</s0><s1>© 2005 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>10 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>05-0492892</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17A03</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Maladie familiale</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Familial disease</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Enfermedad familiar</s0><s2>NM</s2><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Facteur risque</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Risk factor</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Factor riesgo</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</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><fN21><s1>346</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 05-0492892 INIST</NO><ET>Absence of previously reported variants in the SCNA (G88c and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial parkinson's disease from the GenePD study</ET><AU>KARAMOHAMED (Samer); GOLBE (L. I.); MARK (M. H.); LAZZARINI (A. M.); SUCHOWERSKY (O.); LABELLE (N.); GUTTMAN (Mark); CURRIE (L. J.); WOOTEN (G. F.); STACY (M.); SAINT-HILAIRE (M.); FELDMAN (R. G.); LIU (J.); SHOEMAKER (C. M.); WILK (J. B.); DESTEFANO (A. L.); LATOURELLE (J. C.); XU (G.); WATTS (R.); GROWDON (J.); LEW (M.); WATERS (C.); VIEREGGE (P.); PRAMSTALLER (P. P.); KLEIN (C.); RACETTE (B. A.); PERLMUTTER (J. S.); PARSIAN (A.); SINGER (Carlos); MONTGOMERY (E.); BAKER (K.); GUSELLA (J. F.); HERBERT (A.); MYERS (R. H.)</AU><AF>Department of Neurology, Boston University School of Medicine/Boston. Massachusetts/Etats-Unis (1 aut., 11 aut., 12 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 18 aut., 33 aut., 34 aut.); Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School/New Brunswick, New Jersey/Etats-Unis (2 aut., 3 aut., 4 aut.); Departments of Clinical Neurosciences and Medical Genetics, University of Calgary/Calgary, Alberta/Canada (5 aut., 6 aut.); Division of Neurology, Department of Medicine, University of Toronto/Toronto/Canada (7 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, Virginia/Etats-Unis (8 aut., 9 aut.); Department of Neurology, Barrow Clinic/Phoenix, Arizona/Etats-Unis (10 aut.); Department of Neurology, Emory University/Atlanta, Georgia/Etats-Unis (19 aut.); Department of Neurology, Massachusetts General Hospital, Harvard Medical School/Boston, Massachusetts/Etats-Unis (20 aut.); Department of Neurology, University of Southern California/Los Angeles, California/Etats-Unis (21 aut., 22 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, Washington University School of Medicine/Saint Louis, Missouri/Etats-Unis (26 aut., 27 aut., 28 aut.); Department of Molecular and Cellular Biology, University of Louisville Health Sciences Center/Louisville, Kentucky/Etats-Unis (28 aut.); Department of Neurology, University of Miami/Miami, Florida/Etats-Unis (29 aut.); Departments of Neurology and Neuroscience, Cleveland Clinic Foundation/Cleveland, Ohio/Etats-Unis (30 aut., 31 aut.); Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School/Boston, Massachusetts/Etats-Unis (32 aut.)</AF><DT>Publication en série; Courte communication, note brève; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2005; Vol. 20; No. 9; Pp. 1188-1191; Bibl. 10 ref.</SO><LA>Anglais</LA><EA>Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.</EA><CC>002B17; 002B17G; 002B17A03</CC><FD>Système nerveux pathologie; Parkinson maladie; Maladie familiale; Facteur risque</FD><FG>Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Système nerveux central pathologie</FG><ED>Nervous system diseases; Parkinson disease; Familial disease; Risk factor</ED><EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG><SD>Sistema nervioso patología; Parkinson enfermedad; Enfermedad familiar; Factor riesgo</SD><LO>INIST-20953.354000131936030140</LO><ID>05-0492892</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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