MovDisordV3, PascalFrancis, Corpus, bibRecord, 000294

LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation

Identifieur interne : 000294 ( PascalFrancis/Corpus ); précédent : 000293; suivant : 000295

LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation

Auteurs : Oswaldo Lorenzo-Betancor ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodriguez-Oroz ; Francesc Valldeoriola ; María J. Marti ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; Jose A. Obeso ; Pau Pastor

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0106510

Descripteurs français

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

English descriptors

KwdEn :
- Haplotype, Mutation, Nervous system diseases, Parkinson disease.

Abstract

Background and objective. Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. Design. We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations. Results. Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761 R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761 R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation`
A11	`01`	`1`		`@1 LORENZO-BETANCOR (Oswaldo)`
A11	`02`	`1`		`@1 SAMARANCH (Lluís)`
A11	`03`	`1`		`@1 EZQUERRA (Mario)`
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A11	`10`	`1`		`@1 ROSS (Owen A.)`
A11	`11`	`1`		`@1 RODRIGUEZ-OROZ (María C.)`
A11	`12`	`1`		`@1 VALLDEORIOLA (Francesc)`
A11	`13`	`1`		`@1 MARTI (María J.)`
A11	`14`	`1`		`@1 LUQUIN (María R.)`
A11	`15`	`1`		`@1 PEREZ-TUR (Jordi)`
A11	`16`	`1`		`@1 BURGUERA (Juan A.)`
A11	`17`	`1`		`@1 OBESO (Jose A.)`
A11	`18`	`1`		`@1 PASTOR (Pau)`
A14	`01`			`@1 Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra @2 Pamplona @3 ESP @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 8 aut. @Z 11 aut. @Z 14 aut. @Z 17 aut. @Z 18 aut.`
A14	`02`			`@1 Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine @2 Pamplona @3 ESP @Z 1 aut. @Z 6 aut. @Z 8 aut. @Z 11 aut. @Z 14 aut. @Z 17 aut. @Z 18 aut.`
A14	`03`			`@1 Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona @3 ESP @Z 3 aut. @Z 4 aut. @Z 7 aut. @Z 12 aut. @Z 13 aut.`
A14	`04`			`@1 CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud @2 Carlos III @3 ESP @Z 3 aut. @Z 4 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut. @Z 11 aut. @Z 12 aut. @Z 13 aut. @Z 15 aut. @Z 17 aut. @Z 18 aut.`
A14	`05`			`@1 Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road @2 Jacksonville, FL @3 USA @Z 9 aut. @Z 10 aut.`
A14	`06`			`@1 Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC @2 Valencia @3 ESP @Z 15 aut.`
A14	`07`			`@1 Service of Neurology, Hospital Universitario "La Fe" @2 Valencia @3 ESP @Z 16 aut.`
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A44				`@0 0000 @1 © 2012 INIST-CNRS. All rights reserved.`
A45				`@0 30 ref.`
A47	`01`	`1`		`@0 12-0106510`
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A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background and objective. Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. Design. We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations. Results. Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761 R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761 R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.
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`
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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 Haplotype @5 09`
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C03	`04`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`04`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`04`	`X`	`SPA`	`@0 Mutación @5 10`
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				`@1 079`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 12-0106510 INIST
ET :	LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation
AU :	LORENZO-BETANCOR (Oswaldo); SAMARANCH (Lluís); EZQUERRA (Mario); TOLOSA (Eduardo); LORENZO (Elena); IRIGOYEN (Jaione); GAIG (Carles); PASTOR (María A.); SOTO-ORTOLAZA (Alexandra I.); ROSS (Owen A.); RODRIGUEZ-OROZ (María C.); VALLDEORIOLA (Francesc); MARTI (María J.); LUQUIN (María R.); PEREZ-TUR (Jordi); BURGUERA (Juan A.); OBESO (Jose A.); PASTOR (Pau)
AF :	Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra/Pamplona/Espagne (1 aut., 2 aut., 5 aut., 6 aut., 8 aut., 11 aut., 14 aut., 17 aut., 18 aut.); Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine/Pamplona/Espagne (1 aut., 6 aut., 8 aut., 11 aut., 14 aut., 17 aut., 18 aut.); Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona/Espagne (3 aut., 4 aut., 7 aut., 12 aut., 13 aut.); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud/Carlos III/Espagne (3 aut., 4 aut., 6 aut., 7 aut., 8 aut., 11 aut., 12 aut., 13 aut., 15 aut., 17 aut., 18 aut.); Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road/Jacksonville, FL/Etats-Unis (9 aut., 10 aut.); Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC/Valencia/Espagne (15 aut.); Service of Neurology, Hospital Universitario "La Fe"/Valencia/Espagne (16 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 1; Pp. 146-151; Bibl. 30 ref.
LA :	Anglais
EA :	Background and objective. Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. Design. We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations. Results. Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761 R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761 R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Haplotype; Mutation
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Haplotype; Mutation
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Haplotipo; Mutación
LO :	INIST-20953.354000508687520240
ID :	12-0106510

Links to Exploration step

Pascal:12-0106510

Le document en format XML

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<author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name>
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<author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name>
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<author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name>
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<author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation><inist:fA14 i1="05"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road</s1>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C." last="Rodriguez-Oroz">María C. Rodriguez-Oroz</name>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R." last="Luquin">María R. Luquin</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name>
<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<affiliation><inist:fA14 i1="06"><s1>Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC</s1>
<s2>Valencia</s2>
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<sZ>15 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A." last="Burguera">Juan A. Burguera</name>
<affiliation><inist:fA14 i1="07"><s1>Service of Neurology, Hospital Universitario "La Fe"</s1>
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<s3>ESP</s3>
<sZ>16 aut.</sZ>
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</affiliation>
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<author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0106510</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0106510 INIST</idno>
<idno type="RBID">Pascal:12-0106510</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000294</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation</title>
<author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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</author>
<author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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</author>
<author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name>
<affiliation><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1>
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</affiliation>
<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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</author>
<author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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</author>
<author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation><inist:fA14 i1="05"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road</s1>
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<s3>USA</s3>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation><inist:fA14 i1="05"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
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</author>
<author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C." last="Rodriguez-Oroz">María C. Rodriguez-Oroz</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A." last="Burguera">Juan A. Burguera</name>
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<s2>Valencia</s2>
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<author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
<s2>Pamplona</s2>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<affiliation><inist:fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
<s2>Carlos III</s2>
<s3>ESP</s3>
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<author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<affiliation><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
<s2>Pamplona</s2>
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</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<s2>Carlos III</s2>
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<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="2012">2012</date>
</imprint>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Haplotype</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Haplotype</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background and objective. Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. Design. We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations. Results. Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761 R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761 R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation</s1>
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<fA11 i1="09" i2="1"><s1>SOTO-ORTOLAZA (Alexandra I.)</s1>
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<fA11 i1="16" i2="1"><s1>BURGUERA (Juan A.)</s1>
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<fA11 i1="17" i2="1"><s1>OBESO (Jose A.)</s1>
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</fA11>
<fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1>
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<fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1>
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<fA14 i1="04"><s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud</s1>
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<fA14 i1="05"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road</s1>
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<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="06"><s1>Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC</s1>
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<s3>ESP</s3>
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<server><NO>PASCAL 12-0106510 INIST</NO>
<ET>LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation</ET>
<AU>LORENZO-BETANCOR (Oswaldo); SAMARANCH (Lluís); EZQUERRA (Mario); TOLOSA (Eduardo); LORENZO (Elena); IRIGOYEN (Jaione); GAIG (Carles); PASTOR (María A.); SOTO-ORTOLAZA (Alexandra I.); ROSS (Owen A.); RODRIGUEZ-OROZ (María C.); VALLDEORIOLA (Francesc); MARTI (María J.); LUQUIN (María R.); PEREZ-TUR (Jordi); BURGUERA (Juan A.); OBESO (Jose A.); PASTOR (Pau)</AU>
<AF>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra/Pamplona/Espagne (1 aut., 2 aut., 5 aut., 6 aut., 8 aut., 11 aut., 14 aut., 17 aut., 18 aut.); Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine/Pamplona/Espagne (1 aut., 6 aut., 8 aut., 11 aut., 14 aut., 17 aut., 18 aut.); Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona/Espagne (3 aut., 4 aut., 7 aut., 12 aut., 13 aut.); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud/Carlos III/Espagne (3 aut., 4 aut., 6 aut., 7 aut., 8 aut., 11 aut., 12 aut., 13 aut., 15 aut., 17 aut., 18 aut.); Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road/Jacksonville, FL/Etats-Unis (9 aut., 10 aut.); Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC/Valencia/Espagne (15 aut.); Service of Neurology, Hospital Universitario "La Fe"/Valencia/Espagne (16 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 1; Pp. 146-151; Bibl. 30 ref.</SO>
<LA>Anglais</LA>
<EA>Background and objective. Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families. Design. We analyzed chromosome 12p11.2-q13.1 haplotypes in 14 late-onset Parkinson's disease families without known LRRK2 mutations. Results. Haplotype analysis identified 12 families in which the affected subjects shared chromosome 12p11.2-q13.1 haplotypes. LRRK2 sequencing revealed a novel co-segregating missense mutation in exon 36 (c.5281A>C; p.S1761R) located within a highly conserved region of the COR [C-terminal of ROC (Ras of complex proteins)] domain wherein it could deregulate LRRK2 kinase activity by modifying ROC-COR dimer stability. p.S1761 R was present in a late-onset Parkinson's disease family and in 2 unrelated Parkinson's disease subjects, but not in 2491 healthy controls. LRRK2 p.S1761 R carriers developed levodopa-responsive asymmetrical parkinsonism, with variable age at onset (range: 37-72 years) suggesting age-dependent penetrance. These findings indicate that mutations interfering with LRRK2 ROC-COR domain dimerization lead to typical Parkinson's disease.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Haplotype; Mutation</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Haplotype; Mutation</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Haplotipo; Mutación</SD>
<LO>INIST-20953.354000508687520240</LO>
<ID>12-0106510</ID>
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Movement Disorders (revue)

LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation

LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation

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