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

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DCTN1 p.K56R in progressive supranuclear palsy.

Identifieur interne : 000214 ( PubMed/Corpus ); précédent : 000213; suivant : 000215

DCTN1 p.K56R in progressive supranuclear palsy.

Auteurs : Emil K. Gustavsson ; Joanne Trinh ; Ilaria Guella ; Chelsea Szu-Tu ; Jaskaran Khinda ; Chin-Hsien Lin ; Ruey-Meei Wu ; Jon Stoessl ; Silke Appel-Cresswell ; Martin Mckeown ; Alex Rajput ; Ali H. Rajput ; Maria Skaalum Petersen ; Beom S. Jeon ; Jan O. Aasly ; Matthew J. Farrer

Source :

RBID : pubmed:27132499

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

Links to Exploration step

pubmed:27132499

Le document en format XML

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<title xml:lang="en">DCTN1 p.K56R in progressive supranuclear palsy.</title>
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<nlm:affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</nlm:affiliation>
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<nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation>
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<name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name>
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<nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation>
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<name sortKey="Mckeown, Martin" sort="Mckeown, Martin" uniqKey="Mckeown M" first="Martin" last="Mckeown">Martin Mckeown</name>
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<nlm:affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</nlm:affiliation>
</affiliation>
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<name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
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<nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation>
</affiliation>
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<name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name>
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<nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation>
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<name sortKey="Petersen, Maria Skaalum" sort="Petersen, Maria Skaalum" uniqKey="Petersen M" first="Maria Skaalum" last="Petersen">Maria Skaalum Petersen</name>
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<nlm:affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</nlm:affiliation>
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<name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name>
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<nlm:affiliation>Department of Neurology, Clinical Research Institute and Movement Disorder Center, Seoul National University Hospital, Seoul, South Korea.</nlm:affiliation>
</affiliation>
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<name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
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<nlm:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology, St. Olav's Hospital, Trondheim, Norway.</nlm:affiliation>
</affiliation>
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<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
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<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>
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<title level="j">Parkinsonism & related disorders</title>
<idno type="eISSN">1873-5126</idno>
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<date when="2016" type="published">2016</date>
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<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>
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<DateCreated>
<Year>2016</Year>
<Month>06</Month>
<Day>20</Day>
</DateCreated>
<DateRevised>
<Year>2016</Year>
<Month>06</Month>
<Day>20</Day>
</DateRevised>
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<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>
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<LastName>Gustavsson</LastName>
<ForeName>Emil K</ForeName>
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<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>
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<Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation>
</AffiliationInfo>
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<LastName>Guella</LastName>
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</AffiliationInfo>
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<LastName>Szu-Tu</LastName>
<ForeName>Chelsea</ForeName>
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<Affiliation>Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation>
</AffiliationInfo>
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</AffiliationInfo>
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<LastName>Lin</LastName>
<ForeName>Chin-Hsien</ForeName>
<Initials>CH</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</Affiliation>
</AffiliationInfo>
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<LastName>Wu</LastName>
<ForeName>Ruey-Meei</ForeName>
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<AffiliationInfo>
<Affiliation>Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.</Affiliation>
</AffiliationInfo>
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<Initials>J</Initials>
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<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>
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<Affiliation>Pacific Parkinson's Research Centre, Department of Medicine (Neurology), University of British Columbia Vancouver, BC, Canada.</Affiliation>
</AffiliationInfo>
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<LastName>McKeown</LastName>
<ForeName>Martin</ForeName>
<Initials>M</Initials>
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</AffiliationInfo>
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<AffiliationInfo>
<Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation>
</AffiliationInfo>
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<LastName>Rajput</LastName>
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<AffiliationInfo>
<Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation>
</AffiliationInfo>
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<LastName>Petersen</LastName>
<ForeName>Maria Skaalum</ForeName>
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<AffiliationInfo>
<Affiliation>Department of Occupational Medicine and Public Health, The Faroese Hospital System, Torshavn, Faroe Islands.</Affiliation>
</AffiliationInfo>
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<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>
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<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>
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<Month>04</Month>
<Day>23</Day>
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<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>
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