Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers
Identifieur interne : 001925 ( Main/Exploration ); précédent : 001924; suivant : 001926Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers
Auteurs : C. Marras [Canada] ; B. Schuele [États-Unis] ; R. P. Munhoz [Brésil] ; E. Rogaeva [Canada] ; J. W. Langston [États-Unis] ; M. Kasten [Allemagne] ; C. Meaney [Canada] ; C. Klein [Allemagne] ; P. M. Wadia [Canada] ; S.-Y. Lim [Canada] ; R. S.-I. Chuang [Canada] ; C. Zadikof [Canada] ; T. Steeves [Canada] ; K. M. Prakash [Canada] ; R. M. A. De Bie [Canada] ; G. Adeli [Canada] ; T. Thomsen [Canada] ; K. K. Johansen [Norvège] ; H. A. Teive [Brésil] ; A. Asante [Canada] ; W. Reginold [Canada] ; A. E. Lang [Canada]Source :
- Neurology [ 0028-3878 ] ; 2011.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Anxiety (complications), Anxiety (genetics), Carrier, Color Vision Defects (complications), Color Vision Defects (genetics), Depression (complications), Depression (genetics), Family, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Nervous system diseases, Neurologic Examination (methods), Olfaction Disorders (complications), Olfaction Disorders (genetics), Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson disease, Phenotype, Protein-Serine-Threonine Kinases (genetics), Psychiatric Status Rating Scales, Tremor (complications), Tremor (genetics).
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical : Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- complications : Anxiety, Color Vision Defects, Depression, Olfaction Disorders, Parkinson Disease, Tremor.
- genetics : Anxiety, Color Vision Defects, Depression, Olfaction Disorders, Parkinson Disease, Tremor.
- methods : Neurologic Examination.
- Adult, Aged, Aged, 80 and over, Family, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Middle Aged, Mutation, Phenotype, Psychiatric Status Rating Scales.
Abstract
Objectives: Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. Methods: Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories. Results: Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status. Conclusions: Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis.
Url:
Affiliations:
- Allemagne, Brésil, Canada, Norvège, États-Unis
- Ontario, Paraná (État), Trøndelag
- Toronto, Trondheim
- Université de Toronto
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Le document en format XML
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Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Adeli, G" sort="Adeli, G" uniqKey="Adeli G" first="G." last="Adeli">G. Adeli</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Thomsen, T" sort="Thomsen, T" uniqKey="Thomsen T" first="T." last="Thomsen">T. Thomsen</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Johansen, K K" sort="Johansen, K K" uniqKey="Johansen K" first="K. K." last="Johansen">K. K. Johansen</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Norwegian University of Science and Technology</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>18 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Teive, H A" sort="Teive, H A" uniqKey="Teive H" first="H. A." last="Teive">H. A. Teive</name><affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Movement Disorders Unit Neurology Service, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>3 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Asante, A" sort="Asante, A" uniqKey="Asante A" first="A." last="Asante">A. Asante</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Reginold, W" sort="Reginold, W" uniqKey="Reginold W" first="W." last="Reginold">W. Reginold</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0353246</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0353246 INIST</idno><idno type="RBID">Pascal:11-0353246</idno><idno type="wicri:Area/PascalFrancis/Corpus">000298</idno><idno type="wicri:Area/PascalFrancis/Curation">000965</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000239</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000239</idno><idno type="wicri:doubleKey">0028-3878:2011:Marras C:phenotype:in:parkinsonian</idno><idno type="wicri:Area/Main/Merge">001A14</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140802</idno><idno type="RBID">PMC:3140802</idno><idno type="wicri:Area/Pmc/Corpus">000613</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000613</idno><idno type="wicri:Area/Pmc/Curation">000613</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000613</idno><idno type="wicri:Area/Pmc/Checkpoint">000914</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000914</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000B93</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B93</idno><idno type="wicri:Area/PubMed/Curation">000B93</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000B93</idno><idno type="wicri:Area/PubMed/Checkpoint">000B93</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000B93</idno><idno type="wicri:Area/Ncbi/Merge">000F16</idno><idno type="wicri:Area/Ncbi/Curation">000F16</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F16</idno><idno type="wicri:doubleKey">0028-3878:2011:Marras C:phenotype:in:parkinsonian</idno><idno type="wicri:Area/Main/Merge">001682</idno><idno type="wicri:Area/Main/Curation">001925</idno><idno type="wicri:Area/Main/Exploration">001925</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers</title><author><name sortKey="Marras, C" sort="Marras, C" uniqKey="Marras C" first="C." last="Marras">C. Marras</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Schuele, B" sort="Schuele, B" uniqKey="Schuele B" first="B." last="Schuele">B. Schuele</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>The Parkinson's Institute</s1><s2>Sunnyvale, CA</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>The Parkinson's Institute</wicri:noRegion></affiliation></author><author><name sortKey="Munhoz, R P" sort="Munhoz, R P" uniqKey="Munhoz R" first="R. P." last="Munhoz">R. P. Munhoz</name><affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Movement Disorders Unit Neurology Service, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>3 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Langston, J W" sort="Langston, J W" uniqKey="Langston J" first="J. W." last="Langston">J. W. Langston</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>The Parkinson's Institute</s1><s2>Sunnyvale, CA</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>The Parkinson's Institute</wicri:noRegion></affiliation></author><author><name sortKey="Kasten, M" sort="Kasten, M" uniqKey="Kasten M" first="M." last="Kasten">M. Kasten</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Psychiatry, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Meaney, C" sort="Meaney, C" uniqKey="Meaney C" first="C." last="Meaney">C. Meaney</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurogenetics, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Wadia, P M" sort="Wadia, P M" uniqKey="Wadia P" first="P. M." last="Wadia">P. M. Wadia</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lim, S Y" sort="Lim, S Y" uniqKey="Lim S" first="S.-Y." last="Lim">S.-Y. Lim</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Chuang, R S I" sort="Chuang, R S I" uniqKey="Chuang R" first="R. S.-I." last="Chuang">R. S.-I. Chuang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Zadikof, C" sort="Zadikof, C" uniqKey="Zadikof C" first="C." last="Zadikof">C. Zadikof</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Steeves, T" sort="Steeves, T" uniqKey="Steeves T" first="T." last="Steeves">T. Steeves</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Prakash, K M" sort="Prakash, K M" uniqKey="Prakash K" first="K. M." last="Prakash">K. M. Prakash</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="De Bie, R M A" sort="De Bie, R M A" uniqKey="De Bie R" first="R. M. A." last="De Bie">R. M. A. De Bie</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Adeli, G" sort="Adeli, G" uniqKey="Adeli G" first="G." last="Adeli">G. Adeli</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Thomsen, T" sort="Thomsen, T" uniqKey="Thomsen T" first="T." last="Thomsen">T. Thomsen</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Johansen, K K" sort="Johansen, K K" uniqKey="Johansen K" first="K. K." last="Johansen">K. K. Johansen</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Norwegian University of Science and Technology</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>18 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Teive, H A" sort="Teive, H A" uniqKey="Teive H" first="H. A." last="Teive">H. A. Teive</name><affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Movement Disorders Unit Neurology Service, Federal University of Paraná</s1><s2>Curitiba, PR</s2><s3>BRA</s3><sZ>3 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Brésil</country><placeName><region type="state">Paraná (État)</region></placeName></affiliation></author><author><name sortKey="Asante, A" sort="Asante, A" uniqKey="Asante A" first="A." last="Asante">A. Asante</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Reginold, W" sort="Reginold, W" uniqKey="Reginold W" first="W." last="Reginold">W. Reginold</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 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>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Anxiety (complications)</term><term>Anxiety (genetics)</term><term>Carrier</term><term>Color Vision Defects (complications)</term><term>Color Vision Defects (genetics)</term><term>Depression (complications)</term><term>Depression (genetics)</term><term>Family</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Heterozygote</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nervous system diseases</term><term>Neurologic Examination (methods)</term><term>Olfaction Disorders (complications)</term><term>Olfaction Disorders (genetics)</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Psychiatric Status Rating Scales</term><term>Tremor (complications)</term><term>Tremor (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Anxiety</term><term>Color Vision Defects</term><term>Depression</term><term>Olfaction Disorders</term><term>Parkinson Disease</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anxiety</term><term>Color Vision Defects</term><term>Depression</term><term>Olfaction Disorders</term><term>Parkinson Disease</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Neurologic Examination</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Family</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Phenotype</term><term>Psychiatric Status Rating Scales</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Phénotype</term><term>Mutation</term><term>Porteur</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives: Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. Methods: Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated control subjects were identified from 4 movement disorders centers. All underwent neurologic examinations and tests of olfaction, color vision, anxiety, and depression inventories. Results: Tremor was more often a presenting feature among 25 individuals with LRRK2-associated PD than among 84 individuals with iPD. Subjects with LRRK2-PD had better olfactory identification compared with subjects with iPD, higher Beck Depression Inventory scores, and higher error scores on Farnsworth-Munsell 100-Hue test of color discrimination. Postural or action tremor was more common among 29 nonmanifesting mutation carriers compared with 53 noncarriers within the families. Nonparkinsonian family members had higher Unified Parkinson's Disease Rating Scale motor scores, more constipation, and worse color discrimination than controls, regardless of mutation status. Conclusions: Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. Postural or action tremor may represent an early sign. Longitudinal evaluation of a large sample of nonmanifesting carriers will be required to describe any premotor phenotype that may allow early diagnosis.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Brésil</li><li>Canada</li><li>Norvège</li><li>États-Unis</li></country><region><li>Ontario</li><li>Paraná (État)</li><li>Trøndelag</li></region><settlement><li>Toronto</li><li>Trondheim</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Marras, C" sort="Marras, C" uniqKey="Marras C" first="C." last="Marras">C. Marras</name></region><name sortKey="Adeli, G" sort="Adeli, G" uniqKey="Adeli G" first="G." last="Adeli">G. Adeli</name><name sortKey="Asante, A" sort="Asante, A" uniqKey="Asante A" first="A." last="Asante">A. Asante</name><name sortKey="Chuang, R S I" sort="Chuang, R S I" uniqKey="Chuang R" first="R. S.-I." last="Chuang">R. S.-I. Chuang</name><name sortKey="De Bie, R M A" sort="De Bie, R M A" uniqKey="De Bie R" first="R. M. A." last="De Bie">R. M. A. De Bie</name><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name><name sortKey="Lim, S Y" sort="Lim, S Y" uniqKey="Lim S" first="S.-Y." last="Lim">S.-Y. Lim</name><name sortKey="Meaney, C" sort="Meaney, C" uniqKey="Meaney C" first="C." last="Meaney">C. Meaney</name><name sortKey="Prakash, K M" sort="Prakash, K M" uniqKey="Prakash K" first="K. M." last="Prakash">K. M. Prakash</name><name sortKey="Reginold, W" sort="Reginold, W" uniqKey="Reginold W" first="W." last="Reginold">W. Reginold</name><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name><name sortKey="Steeves, T" sort="Steeves, T" uniqKey="Steeves T" first="T." last="Steeves">T. Steeves</name><name sortKey="Thomsen, T" sort="Thomsen, T" uniqKey="Thomsen T" first="T." last="Thomsen">T. Thomsen</name><name sortKey="Wadia, P M" sort="Wadia, P M" uniqKey="Wadia P" first="P. M." last="Wadia">P. M. Wadia</name><name sortKey="Zadikof, C" sort="Zadikof, C" uniqKey="Zadikof C" first="C." last="Zadikof">C. Zadikof</name></country><country name="États-Unis"><noRegion><name sortKey="Schuele, B" sort="Schuele, B" uniqKey="Schuele B" first="B." last="Schuele">B. Schuele</name></noRegion><name sortKey="Langston, J W" sort="Langston, J W" uniqKey="Langston J" first="J. W." last="Langston">J. W. Langston</name></country><country name="Brésil"><region name="Paraná (État)"><name sortKey="Munhoz, R P" sort="Munhoz, R P" uniqKey="Munhoz R" first="R. P." last="Munhoz">R. P. Munhoz</name></region><name sortKey="Teive, H A" sort="Teive, H A" uniqKey="Teive H" first="H. A." last="Teive">H. A. Teive</name></country><country name="Allemagne"><noRegion><name sortKey="Kasten, M" sort="Kasten, M" uniqKey="Kasten M" first="M." last="Kasten">M. Kasten</name></noRegion><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Johansen, K K" sort="Johansen, K K" uniqKey="Johansen K" first="K. K." last="Johansen">K. K. Johansen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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