Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.
Identifieur interne : 000224 ( PubMed/Corpus ); précédent : 000223; suivant : 000225Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.
Auteurs : Dolores Vilas ; Leslie M. Shaw ; Peggy Taylor ; Daniela Berg ; Kathrin Brockmann ; Jan Aasly ; Connie Marras ; Claustre Pont-Sunyer ; José Ríos ; Ken Marek ; Eduardo TolosaSource :
- 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
Links to Exploration step
pubmed:27041685Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.</title><author><name sortKey="Vilas, Dolores" sort="Vilas, Dolores" uniqKey="Vilas D" first="Dolores" last="Vilas">Dolores Vilas</name><affiliation><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></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><nlm:affiliation>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Taylor, Peggy" sort="Taylor, Peggy" uniqKey="Taylor P" first="Peggy" last="Taylor">Peggy Taylor</name><affiliation><nlm:affiliation>BioLegend Inc, Dedham, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name><affiliation><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name><affiliation><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></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><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Rios, Jose" sort="Rios, Jose" uniqKey="Rios J" first="José" last="Ríos">José Ríos</name><affiliation><nlm:affiliation>Biostatistics and Data Management Core Facility, IDIBAPS (Hospital Clinic), Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Marek, Ken" sort="Marek, Ken" uniqKey="Marek K" first="Ken" last="Marek">Ken Marek</name><affiliation><nlm:affiliation>Institute for Neurodegenerative Disorders, New Haven, Connecticut, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27041685</idno><idno type="pmid">27041685</idno><idno type="doi">10.1002/mds.26591</idno><idno type="wicri:Area/PubMed/Corpus">000224</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000224</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.</title><author><name sortKey="Vilas, Dolores" sort="Vilas, Dolores" uniqKey="Vilas D" first="Dolores" last="Vilas">Dolores Vilas</name><affiliation><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></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><nlm:affiliation>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Taylor, Peggy" sort="Taylor, Peggy" uniqKey="Taylor P" first="Peggy" last="Taylor">Peggy Taylor</name><affiliation><nlm:affiliation>BioLegend Inc, Dedham, Massachusetts, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name><affiliation><nlm:affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Aasly, Jan" sort="Aasly, Jan" uniqKey="Aasly J" first="Jan" last="Aasly">Jan Aasly</name><affiliation><nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name><affiliation><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></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><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Rios, Jose" sort="Rios, Jose" uniqKey="Rios J" first="José" last="Ríos">José Ríos</name><affiliation><nlm:affiliation>Biostatistics and Data Management Core Facility, IDIBAPS (Hospital Clinic), Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Marek, Ken" sort="Marek, Ken" uniqKey="Marek K" first="Ken" last="Marek">Ken Marek</name><affiliation><nlm:affiliation>Institute for Neurodegenerative Disorders, New Haven, Connecticut, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut de Neurociències Hospital Clínic, University of Barcelona, Catalonia, Spain.</nlm:affiliation></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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000224 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 000224 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:27041685
|texte= Cerebrospinal fluid biomarkers and clinical features in leucine-rich repeat kinase 2 (LRRK2) mutation carriers.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:27041685" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |