Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.
Identifieur interne : 001F20 ( Ncbi/Merge ); précédent : 001F19; suivant : 001F21Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.
Auteurs : Dolores Vilas [Espagne] ; Leslie M. Shaw [États-Unis] ; Peggy Taylor [États-Unis] ; Daniela Berg [Allemagne] ; Kathrin Brockmann [Allemagne] ; Jan Aasly [Norvège] ; Connie Marras [Canada] ; Claustre Pont-Sunyer [Espagne] ; José Ríos [Espagne] ; Ken Marek [États-Unis] ; Eduardo Tolosa [Espagne]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2016.
Abstract
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of inherited Parkinson's disease (PD). Nonmanifesting carriers of LRRK2 mutations are at high risk for developing PD. Information available on cerebrospinal fluid (CSF) biomarkers in LRRK2 carriers remains preliminary.
DOI: 10.1002/mds.26591
PubMed: 27041685
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sortKey="Vilas, Dolores" sort="Vilas, Dolores" uniqKey="Vilas D" first="Dolores" last="Vilas">Dolores Vilas</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Shaw, Leslie M" sort="Shaw, Leslie M" uniqKey="Shaw L" first="Leslie M" last="Shaw">Leslie M. Shaw</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Taylor, Peggy" sort="Taylor, Peggy" uniqKey="Taylor P" first="Peggy" last="Taylor">Peggy Taylor</name><affiliation wicri:level="2"><nlm:affiliation>BioLegend Inc, Dedham, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>BioLegend Inc, Dedham, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name><affiliation wicri:level="1"><nlm:affiliation>Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Pont Sunyer, Claustre" sort="Pont Sunyer, Claustre" uniqKey="Pont Sunyer C" first="Claustre" last="Pont-Sunyer">Claustre Pont-Sunyer</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Rios, Jose" sort="Rios, Jose" uniqKey="Rios J" first="José" last="Ríos">José Ríos</name><affiliation wicri:level="3"><nlm:affiliation>Biostatistics and Data Management Core Facility, IDIBAPS (Hospital Clinic), Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Biostatistics and Data Management Core Facility, IDIBAPS (Hospital Clinic), Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marek, Ken" sort="Marek, Ken" uniqKey="Marek K" first="Ken" last="Marek">Ken Marek</name><affiliation wicri:level="2"><nlm:affiliation>Institute for Neurodegenerative Disorders, New Haven, Connecticut, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute for Neurodegenerative Disorders, New Haven, Connecticut</wicri:regionArea><placeName><region type="state">Connecticut</region></placeName></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of inherited Parkinson's disease (PD). Nonmanifesting carriers of LRRK2 mutations are at high risk for developing PD. Information available on cerebrospinal fluid (CSF) biomarkers in LRRK2 carriers remains preliminary.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27041685</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>01</Day></DateCreated><DateRevised><Year>2016</Year><Month>06</Month><Day>01</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>31</Volume><Issue>6</Issue><PubDate><Year>2016</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.</ArticleTitle><Pagination><MedlinePgn>906-14</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26591</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common cause of inherited Parkinson's disease (PD). Nonmanifesting carriers of LRRK2 mutations are at high risk for developing PD. Information available on cerebrospinal fluid (CSF) biomarkers in LRRK2 carriers remains preliminary.</AbstractText><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To measure CSF levels of α-synuclein, β amyloid1-42 , total-tau, and phospho-tau181 , in LRRK2-associated PD, idiopathic PD, nonmanifesting carriers, and first-degree relatives of LRRK2-associated PD patients without the mutation (nonmanifesting noncarriers). To correlate the clinical features and the integrity of the nigrostriatal pathway assessed by neuroimaging with the CSF biomarkers.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">138 CSF samples provided by the Michael J. Fox Foundation LRRK2 Cohort Consortium were analyzed: 28 LRRK2-associated PD, 35 idiopathic PD, 41 nonmanifesting carriers, and 34 nonmanifesting noncarriers. All of the participants in the study were clinically assessed. Most of the participants underwent a dopamine transporter scan to assess the integrity of the nigrostriatal pathway.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">CSF levels of α-synuclein were similar in LRRK2-associated PD, nonmanifesting carriers, and nonmanifesting noncarriers but significantly higher than in idiopathic PD (P = .041). No differences were found in the concentrations of β amyloid1-42 , total-tau, or phospho-tau181 among study groups. CSF alpha-synuclein levels strongly correlated with total-tau and phospo-tau181 levels in all groups. No significant correlation was found between the CSF biomarkers and the striatal binding ratios for (123)I-FP-CIT in nonmanifesting carriers.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The CSF protein profile differs in LRRK2-associated PD and idiopathic PD, suggesting that pathophysiological mechanisms different from IPD underlie LRRK2-associated PD. Cerebrospinal fluid biomarkers did not prove helpful in differentiating asymptomatic LRRK2 mutation carriers from noncarriers. © 2016 International Parkinson and Movement Disorder Society.</AbstractText><CopyrightInformation>© 2016 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vilas</LastName><ForeName>Dolores</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shaw</LastName><ForeName>Leslie M</ForeName><Initials>LM</Initials><AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Taylor</LastName><ForeName>Peggy</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>BioLegend Inc, Dedham, Massachusetts, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berg</LastName><ForeName>Daniela</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brockmann</LastName><ForeName>Kathrin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marras</LastName><ForeName>Connie</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pont-Sunyer</LastName><ForeName>Claustre</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ríos</LastName><ForeName>José</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Biostatistics and Data Management Core Facility, IDIBAPS (Hospital Clinic), Barcelona, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Biostatistics Unit, Faculty of Medicine, Universitat Autònoma de Barcelona, Catalonia, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marek</LastName><ForeName>Ken</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute for Neurodegenerative Disorders, New Haven, Connecticut, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>Eduardo</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centro en Red para la Investigación de Enfermedades Neurodegenerativas CIBERNED, Spain.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>04</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CSF</Keyword><Keyword MajorTopicYN="N">LRRK2</Keyword><Keyword MajorTopicYN="N">Parkinson</Keyword><Keyword MajorTopicYN="N">alpha-synuclein</Keyword><Keyword MajorTopicYN="N">biomarker</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>10</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>01</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>01</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>4</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27041685</ArticleId><ArticleId IdType="doi">10.1002/mds.26591</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>Espagne</li><li>Norvège</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Catalogne</li><li>Connecticut</li><li>District de Tübingen</li><li>Massachusetts</li><li>Pennsylvanie</li><li>Trøndelag</li></region><settlement><li>Barcelone</li><li>Trondheim</li><li>Tübingen</li></settlement></list><tree><country name="Espagne"><noRegion><name sortKey="Vilas, Dolores" sort="Vilas, Dolores" uniqKey="Vilas D" first="Dolores" last="Vilas">Dolores Vilas</name></noRegion><name sortKey="Pont Sunyer, Claustre" sort="Pont Sunyer, Claustre" uniqKey="Pont Sunyer C" first="Claustre" last="Pont-Sunyer">Claustre Pont-Sunyer</name><name sortKey="Rios, Jose" sort="Rios, Jose" uniqKey="Rios J" first="José" last="Ríos">José Ríos</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Shaw, Leslie M" sort="Shaw, Leslie M" uniqKey="Shaw L" first="Leslie M" last="Shaw">Leslie M. 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HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:27041685" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |