La maladie de Parkinson au Canada (serveur d'exploration)

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The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.

Identifieur interne : 000032 ( PubMed/Curation ); précédent : 000031; suivant : 000033

The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.

Auteurs : Claustre Pont-Sunyer [Espagne] ; Eduardo Tolosa [Espagne] ; Chelsea Caspell-Garcia [États-Unis] ; Christopher Coffey [États-Unis] ; Roy N. Alcalay [États-Unis] ; Piu Chan [République populaire de Chine] ; John E. Duda [États-Unis] ; Maurizio Facheris [États-Unis] ; Rubén Fernández-Santiago [Espagne] ; Kenneth Marek [États-Unis] ; Francisco Lome A [Espagne] ; Connie Marras [Canada] ; Elisabet Mondragon [Espagne] ; Rachel Saunders-Pullman [États-Unis] ; Bjorg Waro [Norvège]

Source :

RBID : pubmed:28370517

Abstract

Asymptomatic, nonmanifesting carriers of leucine-rich repeat kinase 2 mutations are at increased risk of developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or may demarcate individuals at greater risk for phenoconversion to PD.

DOI: 10.1002/mds.26964
PubMed: 28370517

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pubmed:28370517

Le document en format XML

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<nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</nlm:affiliation>
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<name sortKey="Caspell Garcia, Chelsea" sort="Caspell Garcia, Chelsea" uniqKey="Caspell Garcia C" first="Chelsea" last="Caspell-Garcia">Chelsea Caspell-Garcia</name>
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<name sortKey="Chan, Piu" sort="Chan, Piu" uniqKey="Chan P" first="Piu" last="Chan">Piu Chan</name>
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<name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name>
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<country xml:lang="fr">Espagne</country>
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<name sortKey="Caspell Garcia, Chelsea" sort="Caspell Garcia, Chelsea" uniqKey="Caspell Garcia C" first="Chelsea" last="Caspell-Garcia">Chelsea Caspell-Garcia</name>
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<nlm:affiliation>Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.</nlm:affiliation>
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<name sortKey="Coffey, Christopher" sort="Coffey, Christopher" uniqKey="Coffey C" first="Christopher" last="Coffey">Christopher Coffey</name>
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<nlm:affiliation>Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA.</nlm:affiliation>
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<wicri:regionArea>Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa</wicri:regionArea>
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<name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
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<nlm:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea>
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<name sortKey="Chan, Piu" sort="Chan, Piu" uniqKey="Chan P" first="Piu" last="Chan">Piu Chan</name>
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<nlm:affiliation>Departments of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Departments of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing</wicri:regionArea>
</affiliation>
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<name sortKey="Duda, John E" sort="Duda, John E" uniqKey="Duda J" first="John E" last="Duda">John E. Duda</name>
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<nlm:affiliation>Parkinson's Disease Research, Education and Clinical Center, Michael J. Crescenz VA Medical Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's Disease Research, Education and Clinical Center, Michael J. Crescenz VA Medical Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea>
</affiliation>
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<name sortKey="Facheris, Maurizio" sort="Facheris, Maurizio" uniqKey="Facheris M" first="Maurizio" last="Facheris">Maurizio Facheris</name>
<affiliation wicri:level="1">
<nlm:affiliation>The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>The Michael J. Fox Foundation for Parkinson's Research, New York, New York</wicri:regionArea>
</affiliation>
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<author>
<name sortKey="Fernandez Santiago, Ruben" sort="Fernandez Santiago, Ruben" uniqKey="Fernandez Santiago R" first="Rubén" last="Fernández-Santiago">Rubén Fernández-Santiago</name>
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<nlm:affiliation>Laboratory of Neurodegenerative Disorders, Department of Neurology, Hospital Clínic of Barcelona, Institutd'InvestigacionsBiomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
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<name sortKey="Marek, Kenneth" sort="Marek, Kenneth" uniqKey="Marek K" first="Kenneth" last="Marek">Kenneth Marek</name>
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<nlm:affiliation>Institute for Neurodegenerative Disorders and Molecular NeuroImaging, New Haven, Connecticut, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Neurodegenerative Disorders and Molecular NeuroImaging, New Haven, Connecticut</wicri:regionArea>
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<name sortKey="Lome A, Francisco" sort="Lome A, Francisco" uniqKey="Lome A F" first="Francisco" last="Lome A">Francisco Lome A</name>
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<nlm:affiliation>Department of Nuclear Medicine, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Nuclear Medicine, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<affiliation wicri:level="1">
<nlm:affiliation>Toronto Western Hospital Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Toronto Western Hospital Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Ontario</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Mondragon, Elisabet" sort="Mondragon, Elisabet" uniqKey="Mondragon E" first="Elisabet" last="Mondragon">Elisabet Mondragon</name>
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<nlm:affiliation>Department of Neurology, Movement Disorders Unit. Hospital Universitario Donostia. Biodonostia Research Institute, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), San Sebastián, Guipúzcoa, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Neurology, Movement Disorders Unit. Hospital Universitario Donostia. Biodonostia Research Institute, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), San Sebastián, Guipúzcoa</wicri:regionArea>
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<name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurology, Mount Sinai Beth Israel Medical Center and Icahn School of Medicine at Mount Sinai, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mount Sinai Beth Israel Medical Center and Icahn School of Medicine at Mount Sinai, New York, New York</wicri:regionArea>
</affiliation>
</author>
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<name sortKey="Waro, Bjorg" sort="Waro, Bjorg" uniqKey="Waro B" first="Bjorg" last="Waro">Bjorg Waro</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurology, Norwegian University of Science and Technology, Trondheim, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Neurology, Norwegian University of Science and Technology, Trondheim</wicri:regionArea>
</affiliation>
</author>
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<series>
<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint>
<date when="2017" type="published">2017</date>
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<div type="abstract" xml:lang="en">Asymptomatic, nonmanifesting carriers of leucine-rich repeat kinase 2 mutations are at increased risk of developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or may demarcate individuals at greater risk for phenoconversion to PD.</div>
</front>
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<MedlineCitation Status="Publisher" Owner="NLM">
<PMID Version="1">28370517</PMID>
<DateCreated>
<Year>2017</Year>
<Month>04</Month>
<Day>03</Day>
</DateCreated>
<DateRevised>
<Year>2017</Year>
<Month>04</Month>
<Day>03</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet">
<PubDate>
<Year>2017</Year>
<Month>Mar</Month>
<Day>28</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.</ArticleTitle>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26964</ELocationID>
<Abstract>
<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Asymptomatic, nonmanifesting carriers of leucine-rich repeat kinase 2 mutations are at increased risk of developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or may demarcate individuals at greater risk for phenoconversion to PD.</AbstractText>
<AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To investigate clinical and dopamine transporter single-photon emission computed tomography imaging characteristics of leucine-rich repeat kinase 2 asymptomatic carriers.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">A total of 342 carriers' and 259 noncarriers' relatives of G2019S leucine-rich repeat kinase 2/PD patients and 39 carriers' and 31 noncarriers' relatives of R1441G leucine-rich repeat kinase 2/PD patients were evaluated. Motor and nonmotor symptoms were assessed using specific scales and questionnaires. Neuroimaging quantitative data were obtained in 81 carriers and compared with 41 noncarriers.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">G2019S carriers scored higher in motor scores and had lower radioligand uptake compared to noncarriers, but no differences in nonmotor symptoms scores were observed. R1441G carriers scored higher in motor scores, had lower radioligand uptake, and had higher scores in depression, dysautonomia, and Rapid Eye Movements Sleep Behavior Disorder Screening Questionnaire scores, but had better cognition scores than noncarriers. Among G2019S carriers, a group with "mild motor signs" was identified, and was significantly older, with worse olfaction and lower radioligand uptake.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">G2019S and R1441G carriers differ from their noncarriers' relatives in higher motor scores and slightly lower radioligand uptake. Nonmotor symptoms were mild, and different nonmotor profiles were observed in G2019S carriers compared to R1441G carriers. A group of G2019S carriers with known prodromal features was identified. Longitudinal studies are required to determine whether such individuals are at short-term risk of developing overt parkinsonism. © 2017 International Parkinson and Movement Disorder Society.</AbstractText>
<CopyrightInformation>© 2017 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
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<Author ValidYN="Y">
<LastName>Pont-Sunyer</LastName>
<ForeName>Claustre</ForeName>
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<Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.</Affiliation>
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<Year>2016</Year>
<Month>12</Month>
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<Month>12</Month>
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