LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation
Identifieur interne : 001077 ( Main/Exploration ); précédent : 001076; suivant : 001078LRRK2 Haplotype-Sharing Analysis in Parkinson's Disease Reveals a Novel p.S1761 R Mutation
Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch [Espagne] ; Mario Ezquerra [Espagne] ; Eduardo Tolosa [Espagne] ; Elena Lorenzo [Espagne] ; Jaione Irigoyen [Espagne] ; Carles Gaig [Espagne] ; María A. Pastor [Espagne] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Owen A. Ross [États-Unis] ; María C. Rodriguez-Oroz [Espagne] ; Francesc Valldeoriola [Espagne] ; María J. Marti [Espagne] ; María R. Luquin [Espagne] ; Jordi Perez-Tur [Espagne] ; Juan A. Burguera [Espagne] ; Jose A. Obeso [Espagne] ; Pau Pastor [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><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 wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo 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III</wicri:noRegion></affiliation></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 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Soto-Ortolaza</name><affiliation wicri:level="2"><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><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><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><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></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 wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J." last="Marti">María J. Marti</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R." last="Luquin">María R. Luquin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC</s1><s2>Valencia</s2><s3>ESP</s3><sZ>15 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A." last="Burguera">Juan A. Burguera</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service of Neurology, Hospital Universitario "La Fe"</s1><s2>Valencia</s2><s3>ESP</s3><sZ>16 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author></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><idno type="wicri:Area/PascalFrancis/Curation">002A20</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000150</idno><idno type="wicri:doubleKey">0885-3185:2012:Lorenzo Betancor O:lrrk:haplotype:sharing</idno><idno type="wicri:Area/Main/Merge">001129</idno><idno type="wicri:Area/Main/Curation">001077</idno><idno type="wicri:Area/Main/Exploration">001077</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 wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><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 wicri:level="2"><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><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><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><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></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 wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J." last="Marti">María J. Marti</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</s1><s3>ESP</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociències, Hospital Clinic de Barcelona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R." last="Luquin">María R. Luquin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Unitat de Genètica Molecular, Institut de Biomedicina de Valencia-CSIC</s1><s2>Valencia</s2><s3>ESP</s3><sZ>15 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A." last="Burguera">Juan A. Burguera</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Service of Neurology, Hospital Universitario "La Fe"</s1><s2>Valencia</s2><s3>ESP</s3><sZ>16 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine</s1><s2>Pamplona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><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><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Carlos III</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>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></TEI><affiliations><list><country><li>Espagne</li><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><country name="Espagne"><noRegion><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name></noRegion><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A." last="Burguera">Juan A. Burguera</name><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R." last="Luquin">María R. Luquin</name><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R." last="Luquin">María R. Luquin</name><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J." last="Marti">María J. Marti</name><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J." last="Marti">María J. Marti</name><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="Jose A." last="Obeso">Jose A. Obeso</name><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A." last="Pastor">María A. Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name><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><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><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><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></country><country name="États-Unis"><region name="Floride"><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></region><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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