ParkinsonCanadaV1, PascalFrancis, Corpus, bibRecord, 000298

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

Identifieur interne : 000298 ( PascalFrancis/Corpus ); précédent : 000297; suivant : 000299

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

Auteurs : C. Marras ; B. Schuele ; R. P. Munhoz ; E. Rogaeva ; J. W. Langston ; M. Kasten ; C. Meaney ; C. Klein ; P. M. Wadia ; S.-Y. Lim ; R. S.-I. Chuang ; C. Zadikof ; T. Steeves ; K. M. Prakash ; R. M. A. De Bie ; G. Adeli ; T. Thomsen ; K. K. Johansen ; H. A. Teive ; A. Asante ; W. Reginold ; A. E. Lang

Source :

Neurology [ 0028-3878 ] ; 2011.

RBID : Pascal:11-0353246

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Phénotype, Mutation, Porteur.

English descriptors

KwdEn :
- Carrier, Mutation, Nervous system diseases, Parkinson disease, Phenotype.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0028-3878`
A02	`01`			`@0 NEURAI`
A03		`1`		`@0 Neurology`
A05				`@2 77`
A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers`
A11	`01`	`1`		`@1 MARRAS (C.)`
A11	`02`	`1`		`@1 SCHUELE (B.)`
A11	`03`	`1`		`@1 MUNHOZ (R. P.)`
A11	`04`	`1`		`@1 ROGAEVA (E.)`
A11	`05`	`1`		`@1 LANGSTON (J. W.)`
A11	`06`	`1`		`@1 KASTEN (M.)`
A11	`07`	`1`		`@1 MEANEY (C.)`
A11	`08`	`1`		`@1 KLEIN (C.)`
A11	`09`	`1`		`@1 WADIA (P. M.)`
A11	`10`	`1`		`@1 LIM (S.-Y.)`
A11	`11`	`1`		`@1 CHUANG (R. S.-I.)`
A11	`12`	`1`		`@1 ZADIKOF (C.)`
A11	`13`	`1`		`@1 STEEVES (T.)`
A11	`14`	`1`		`@1 PRAKASH (K. M.)`
A11	`15`	`1`		`@1 DE BIE (R. M. A.)`
A11	`16`	`1`		`@1 ADELI (G.)`
A11	`17`	`1`		`@1 THOMSEN (T.)`
A11	`18`	`1`		`@1 JOHANSEN (K. K.)`
A11	`19`	`1`		`@1 TEIVE (H. A.)`
A11	`20`	`1`		`@1 ASANTE (A.)`
A11	`21`	`1`		`@1 REGINOLD (W.)`
A11	`22`	`1`		`@1 LANG (A. E.)`
A14	`01`			`@1 Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto @2 Toronto @3 CAN @Z 1 aut. @Z 7 aut. @Z 9 aut. @Z 10 aut. @Z 11 aut. @Z 12 aut. @Z 13 aut. @Z 14 aut. @Z 15 aut. @Z 16 aut. @Z 17 aut. @Z 20 aut. @Z 21 aut. @Z 22 aut.`
A14	`02`			`@1 Centre for Research in Neurodegenerative Diseases, University of Toronto @2 Toronto @3 CAN @Z 4 aut.`
A14	`03`			`@1 The Parkinson's Institute @2 Sunnyvale, CA @3 USA @Z 2 aut. @Z 5 aut.`
A14	`04`			`@1 Movement Disorders Unit Neurology Service, Federal University of Paraná @2 Curitiba, PR @3 BRA @Z 3 aut. @Z 19 aut.`
A14	`05`			`@1 Department of Psychiatry, University of Lübeck @2 Lübeck @3 DEU @Z 6 aut.`
A14	`06`			`@1 Department of Neurogenetics, University of Lübeck @2 Lübeck @3 DEU @Z 8 aut.`
A14	`07`			`@1 Norwegian University of Science and Technology @2 Trondheim @3 NOR @Z 18 aut.`
A20				`@1 325-333`
A21				`@1 2011`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 6345 @5 354000508546870060`
A44				`@0 0000 @1 © 2011 INIST-CNRS. All rights reserved.`
A45				`@0 20 ref.`
A47	`01`	`1`		`@0 11-0353246`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Neurology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Phénotype @5 09`
C03	`03`	`X`	`ENG`	`@0 Phenotype @5 09`
C03	`03`	`X`	`SPA`	`@0 Fenotipo @5 09`
C03	`04`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`04`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`04`	`X`	`SPA`	`@0 Mutación @5 10`
C03	`05`	`X`	`FRE`	`@0 Porteur @5 11`
C03	`05`	`X`	`ENG`	`@0 Carrier @5 11`
C03	`05`	`X`	`SPA`	`@0 Portador @5 11`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 241`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 11-0353246 INIST
ET :	Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers
AU :	MARRAS (C.); SCHUELE (B.); MUNHOZ (R. P.); ROGAEVA (E.); LANGSTON (J. W.); KASTEN (M.); MEANEY (C.); KLEIN (C.); WADIA (P. M.); LIM (S.-Y.); CHUANG (R. S.-I.); ZADIKOF (C.); STEEVES (T.); PRAKASH (K. M.); DE BIE (R. M. A.); ADELI (G.); THOMSEN (T.); JOHANSEN (K. K.); TEIVE (H. A.); ASANTE (A.); REGINOLD (W.); LANG (A. E.)
AF :	Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto/Toronto/Canada (1 aut., 7 aut., 9 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 20 aut., 21 aut., 22 aut.); Centre for Research in Neurodegenerative Diseases, University of Toronto/Toronto/Canada (4 aut.); The Parkinson's Institute/Sunnyvale, CA/Etats-Unis (2 aut., 5 aut.); Movement Disorders Unit Neurology Service, Federal University of Paraná/Curitiba, PR/Brésil (3 aut., 19 aut.); Department of Psychiatry, University of Lübeck/Lübeck/Allemagne (6 aut.); Department of Neurogenetics, University of Lübeck/Lübeck/Allemagne (8 aut.); Norwegian University of Science and Technology/Trondheim/Norvège (18 aut.)
DT :	Publication en série; Niveau analytique
SO :	Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2011; Vol. 77; No. 4; Pp. 325-333; Bibl. 20 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Phénotype; Mutation; Porteur
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Phenotype; Mutation; Carrier
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Fenotipo; Mutación; Portador
LO :	INIST-6345.354000508546870060
ID :	11-0353246

Links to Exploration step

Pascal:11-0353246

Le document en format XML

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<author><name sortKey="Lim, S Y" sort="Lim, S Y" uniqKey="Lim S" first="S.-Y." last="Lim">S.-Y. Lim</name>
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<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>
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<author><name sortKey="Zadikof, C" sort="Zadikof, C" uniqKey="Zadikof C" first="C." last="Zadikof">C. Zadikof</name>
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<author><name sortKey="Prakash, K M" sort="Prakash, K M" uniqKey="Prakash K" first="K. M." last="Prakash">K. M. Prakash</name>
<affiliation><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1>
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<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><inist:fA14 i1="01"><s1>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto</s1>
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<author><name sortKey="Adeli, G" sort="Adeli, G" uniqKey="Adeli G" first="G." last="Adeli">G. Adeli</name>
<affiliation><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>
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<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Thomsen, T" sort="Thomsen, T" uniqKey="Thomsen T" first="T." last="Thomsen">T. Thomsen</name>
<affiliation><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>
</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><inist:fA14 i1="07"><s1>Norwegian University of Science and Technology</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
</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><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>
</affiliation>
</author>
<author><name sortKey="Asante, A" sort="Asante, A" uniqKey="Asante A" first="A." last="Asante">A. Asante</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Reginold, W" sort="Reginold, W" uniqKey="Reginold W" first="W." last="Reginold">W. Reginold</name>
<affiliation><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>
</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><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>
</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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Schuele, B" sort="Schuele, B" uniqKey="Schuele B" first="B." last="Schuele">B. Schuele</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Kasten, M" sort="Kasten, M" uniqKey="Kasten M" first="M." last="Kasten">M. Kasten</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Psychiatry, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Meaney, C" sort="Meaney, C" uniqKey="Meaney C" first="C." last="Meaney">C. Meaney</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurogenetics, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</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><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Zadikof, C" sort="Zadikof, C" uniqKey="Zadikof C" first="C." last="Zadikof">C. Zadikof</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Steeves, T" sort="Steeves, T" uniqKey="Steeves T" first="T." last="Steeves">T. Steeves</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Adeli, G" sort="Adeli, G" uniqKey="Adeli G" first="G." last="Adeli">G. Adeli</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Thomsen, T" sort="Thomsen, T" uniqKey="Thomsen T" first="T." last="Thomsen">T. Thomsen</name>
<affiliation><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>
</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><inist:fA14 i1="07"><s1>Norwegian University of Science and Technology</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
</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><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>
</affiliation>
</author>
<author><name sortKey="Asante, A" sort="Asante, A" uniqKey="Asante A" first="A." last="Asante">A. Asante</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Reginold, W" sort="Reginold, W" uniqKey="Reginold W" first="W." last="Reginold">W. Reginold</name>
<affiliation><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>
</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><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>
</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>Carrier</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0028-3878</s0>
</fA01>
<fA02 i1="01"><s0>NEURAI</s0>
</fA02>
<fA03 i2="1"><s0>Neurology</s0>
</fA03>
<fA05><s2>77</s2>
</fA05>
<fA06><s2>4</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MARRAS (C.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>SCHUELE (B.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MUNHOZ (R. P.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>ROGAEVA (E.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>LANGSTON (J. W.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>KASTEN (M.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MEANEY (C.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>KLEIN (C.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>WADIA (P. M.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>LIM (S.-Y.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>CHUANG (R. S.-I.)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>ZADIKOF (C.)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>STEEVES (T.)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>PRAKASH (K. M.)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>DE BIE (R. M. A.)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>ADELI (G.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>THOMSEN (T.)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>JOHANSEN (K. K.)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>TEIVE (H. A.)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>ASANTE (A.)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>REGINOLD (W.)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>LANG (A. E.)</s1>
</fA11>
<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>
</fA14>
<fA14 i1="02"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>The Parkinson's Institute</s1>
<s2>Sunnyvale, CA</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="05"><s1>Department of Psychiatry, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurogenetics, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Norwegian University of Science and Technology</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>18 aut.</sZ>
</fA14>
<fA20><s1>325-333</s1>
</fA20>
<fA21><s1>2011</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>6345</s2>
<s5>354000508546870060</s5>
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<fA44><s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>20 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>11-0353246</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Neurology</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Porteur</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Carrier</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Portador</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</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>Syndrome extrapyramidal</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>Pathologie du   système nerveux central</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>241</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
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<server><NO>PASCAL 11-0353246 INIST</NO>
<ET>Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers</ET>
<AU>MARRAS (C.); SCHUELE (B.); MUNHOZ (R. P.); ROGAEVA (E.); LANGSTON (J. W.); KASTEN (M.); MEANEY (C.); KLEIN (C.); WADIA (P. M.); LIM (S.-Y.); CHUANG (R. S.-I.); ZADIKOF (C.); STEEVES (T.); PRAKASH (K. M.); DE BIE (R. M. A.); ADELI (G.); THOMSEN (T.); JOHANSEN (K. K.); TEIVE (H. A.); ASANTE (A.); REGINOLD (W.); LANG (A. E.)</AU>
<AF>Toronro Western Hospital and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto/Toronto/Canada (1 aut., 7 aut., 9 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 15 aut., 16 aut., 17 aut., 20 aut., 21 aut., 22 aut.); Centre for Research in Neurodegenerative Diseases, University of Toronto/Toronto/Canada (4 aut.); The Parkinson's Institute/Sunnyvale, CA/Etats-Unis (2 aut., 5 aut.); Movement Disorders Unit Neurology Service, Federal University of Paraná/Curitiba, PR/Brésil (3 aut., 19 aut.); Department of Psychiatry, University of Lübeck/Lübeck/Allemagne (6 aut.); Department of Neurogenetics, University of Lübeck/Lübeck/Allemagne (8 aut.); Norwegian University of Science and Technology/Trondheim/Norvège (18 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2011; Vol. 77; No. 4; Pp. 325-333; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Phénotype; Mutation; Porteur</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Phenotype; Mutation; Carrier</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Fenotipo; Mutación; Portador</SD>
<LO>INIST-6345.354000508546870060</LO>
<ID>11-0353246</ID>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

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