DCTN1 p.K56R in progressive supranuclear palsy.
Identifieur interne : 000287 ( PubMed/Checkpoint ); précédent : 000286; suivant : 000288DCTN1 p.K56R in progressive supranuclear palsy.
Auteurs : Emil K. Gustavsson [Norvège] ; Joanne Trinh [Canada] ; Ilaria Guella [Canada] ; Chelsea Szu-Tu [Canada] ; Jaskaran Khinda [Canada] ; Chin-Hsien Lin [Taïwan] ; Ruey-Meei Wu [Taïwan] ; Jon Stoessl [Canada] ; Silke Appel-Cresswell [Canada] ; Martin Mckeown [Canada] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Maria Skaalum Petersen ; Beom S. Jeon [Corée du Sud] ; Jan O. Aasly [Norvège] ; Matthew J. Farrer [Canada]Source :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2016.
Abstract
Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.
DOI: 10.1016/j.parkreldis.2016.04.025
PubMed: 27132499
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Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Khinda, Jaskaran" sort="Khinda, Jaskaran" 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Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. 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Jeon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. 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Gustavsson</name><affiliation wicri:level="3"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Khinda, Jaskaran" sort="Khinda, Jaskaran" uniqKey="Khinda J" first="Jaskaran" last="Khinda">Jaskaran Khinda</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Petersen, Maria Skaalum" sort="Petersen, Maria Skaalum" uniqKey="Petersen M" first="Maria Skaalum" last="Petersen">Maria Skaalum Petersen</name><affiliation><nlm:affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</nlm:affiliation><wicri:noCountry code="subField">Faroe Islands</wicri:noCountry></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim</wicri:regionArea><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: mfarrer@can.ubc.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</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 dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27132499</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>20</Day></DateCreated><DateRevised><Year>2016</Year><Month>06</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5126</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><PubDate><Year>2016</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Parkinsonism & related disorders</Title><ISOAbbreviation>Parkinsonism Relat. Disord.</ISOAbbreviation></Journal><ArticleTitle>DCTN1 p.K56R in progressive supranuclear palsy.</ArticleTitle><Pagination><MedlinePgn>56-61</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.parkreldis.2016.04.025</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1353-8020(16)30129-8</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. Variants (MAF < 0.01) were subsequently genotyped in Caucasian (1360 cases and 1009 controls) and Asian cohorts (1046 cases and 830 controls), and the functional implications of pathogenic variants were assessed.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">We identified 17 rare variants leading to non-synonymous amino-acid substitutions. Four of the variants were only observed in control subjects, four in both cases and controls and the remaining nine in cases only. One of the variants, DCTN1 p.K56R, was present in two patients with progressive supranuclear palsy (PSP) with a shared minimal 2.2 Mb haplotype. Both subjects have parkinsonism as the most prominent symptom with abnormal ocular movements, moderate cognitive impairment and little to no l-dopa response. Neither subject presents with depression, central hypoventilation or weight loss. For one of the subjects MRI shows symmetrical atrophy of temporal and frontoparietal lobes. In HEK293 cells mutant p150(glued) (p.K56R) shows less affinity for microtubules than wild-type, with a more diffuse cytoplasmic distribution.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">We have identified DCTN1 p.K56R in patients with PSP. This variant is immediately adjacent to the N-terminal p150(glued) 'CAP-Gly' domain, affects a highly conserved amino acid and alters the protein's affinity to microtubules and its cytoplasmic distribution.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gustavsson</LastName><ForeName>Emil K</ForeName><Initials>EK</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Trinh</LastName><ForeName>Joanne</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guella</LastName><ForeName>Ilaria</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Szu-Tu</LastName><ForeName>Chelsea</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Khinda</LastName><ForeName>Jaskaran</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Chin-Hsien</ForeName><Initials>CH</Initials><AffiliationInfo><Affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wu</LastName><ForeName>Ruey-Meei</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stoessl</LastName><ForeName>Jon</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Appel-Cresswell</LastName><ForeName>Silke</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McKeown</LastName><ForeName>Martin</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Alex</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Ali H</ForeName><Initials>AH</Initials><AffiliationInfo><Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petersen</LastName><ForeName>Maria Skaalum</ForeName><Initials>MS</Initials><AffiliationInfo><Affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeon</LastName><ForeName>Beom S</ForeName><Initials>BS</Initials><AffiliationInfo><Affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aasly</LastName><ForeName>Jan O</ForeName><Initials>JO</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: mfarrer@can.ubc.ca.</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>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Parkinsonism Relat Disord</MedlineTA><NlmUniqueID>9513583</NlmUniqueID><ISSNLinking>1353-8020</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DCTN1</Keyword><Keyword MajorTopicYN="N">Microtubule</Keyword><Keyword MajorTopicYN="N">Mutation</Keyword><Keyword MajorTopicYN="N">Parkinsonism</Keyword><Keyword MajorTopicYN="N">Progressive supranuclear palsy</Keyword><Keyword MajorTopicYN="N">p150Glued</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>01</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>04</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>04</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27132499</ArticleId><ArticleId IdType="pii">S1353-8020(16)30129-8</ArticleId><ArticleId IdType="doi">10.1016/j.parkreldis.2016.04.025</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>Corée du Sud</li><li>Norvège</li><li>Taïwan</li></country><region><li>Trøndelag</li></region><settlement><li>Séoul</li><li>Trondheim</li></settlement></list><tree><noCountry><name sortKey="Petersen, Maria Skaalum" sort="Petersen, Maria Skaalum" uniqKey="Petersen M" first="Maria Skaalum" last="Petersen">Maria Skaalum Petersen</name></noCountry><country name="Norvège"><region name="Trøndelag"><name sortKey="Gustavsson, Emil K" sort="Gustavsson, Emil K" uniqKey="Gustavsson E" first="Emil K" last="Gustavsson">Emil K. Gustavsson</name></region><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name></country><country name="Canada"><noRegion><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name></noRegion><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><name sortKey="Khinda, Jaskaran" sort="Khinda, Jaskaran" uniqKey="Khinda J" first="Jaskaran" last="Khinda">Jaskaran Khinda</name><name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><name sortKey="Stoessl, Jon" sort="Stoessl, Jon" uniqKey="Stoessl J" first="Jon" last="Stoessl">Jon Stoessl</name><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name></country><country name="Taïwan"><noRegion><name sortKey="Lin, Chin Hsien" sort="Lin, Chin Hsien" uniqKey="Lin C" first="Chin-Hsien" last="Lin">Chin-Hsien Lin</name></noRegion><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></country><country name="Corée du Sud"><noRegion><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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