Perry syndrome due to the DCTN1 G71R mutation – a distinctive L-DOPA responsive disorder with behavioural syndrome, vertical gaze palsy and respiratory failure
Identifieur interne : 000318 ( Pmc/Checkpoint ); précédent : 000317; suivant : 000319Perry syndrome due to the DCTN1 G71R mutation – a distinctive L-DOPA responsive disorder with behavioural syndrome, vertical gaze palsy and respiratory failure
Auteurs : Victoria Newsway ; Mark Fish [Royaume-Uni] ; Jonathan D. Rohrer [Royaume-Uni] ; Elisa Majounie ; Nigel Williams ; Melissa Hack ; Jason Warren [Royaume-Uni] ; Huw R. MorrisSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
Abstract
Perry syndrome is a rare form of autosomal dominant parkinsonism with respiratory failiure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant non-motor symptoms responsive to L-DOPA, distinctive cranio-cervical L-DOPA induced dyskinesias, and a good response to high dose L-DOPA therapy and respiratory support. The family was initially thought to have autosomal dominant behavioural variant frontotemporal dementia with parkinsonism. This report expands the clinical definition of this distinctive syndrome.
Url:
DOI: 10.1002/mds.22950
PubMed: 20437543
PubMed Central: 4610057
Affiliations:
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Rohrer</name><affiliation wicri:level="1"><nlm:aff id="A3">Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author><author><name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author><author><name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name><affiliation><nlm:aff id="A4">Gwent Sleep Centre, Royal Gwent Hospital, Cardiff Road, Newport, Gwent UK</nlm:aff><wicri:noCountry code="subfield">Gwent UK</wicri:noCountry></affiliation></author><author><name sortKey="Warren, Jason" sort="Warren, Jason" uniqKey="Warren J" first="Jason" last="Warren">Jason Warren</name><affiliation wicri:level="1"><nlm:aff id="A3">Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20437543</idno><idno type="pmc">4610057</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610057</idno><idno type="RBID">PMC:4610057</idno><idno type="doi">10.1002/mds.22950</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000221</idno><idno type="wicri:Area/Pmc/Curation">000221</idno><idno type="wicri:Area/Pmc/Checkpoint">000318</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Perry syndrome due to the DCTN1 G71R mutation – a distinctive L-DOPA responsive disorder with behavioural syndrome, vertical gaze palsy and respiratory failure</title><author><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author><author><name sortKey="Fish, Mark" sort="Fish, Mark" uniqKey="Fish M" first="Mark" last="Fish">Mark Fish</name><affiliation wicri:level="1"><nlm:aff id="A2">Neurology Department, University Hospital of Wales, Cardiff, CF 14 4XN, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurology Department, University Hospital of Wales, Cardiff, CF 14 4XN</wicri:regionArea><wicri:noRegion>CF 14 4XN</wicri:noRegion></affiliation></author><author><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name><affiliation wicri:level="1"><nlm:aff id="A3">Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author><author><name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author><author><name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name><affiliation><nlm:aff id="A4">Gwent Sleep Centre, Royal Gwent Hospital, Cardiff Road, Newport, Gwent UK</nlm:aff><wicri:noCountry code="subfield">Gwent UK</wicri:noCountry></affiliation></author><author><name sortKey="Warren, Jason" sort="Warren, Jason" uniqKey="Warren J" first="Jason" last="Warren">Jason Warren</name><affiliation wicri:level="1"><nlm:aff id="A3">Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name><affiliation><nlm:aff id="A1">MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</nlm:aff><wicri:noCountry code="subfield">Cardiff CF14 4XN UK</wicri:noCountry></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P14">Perry syndrome is a rare form of autosomal dominant parkinsonism with respiratory failiure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant non-motor symptoms responsive to L-DOPA, distinctive cranio-cervical L-DOPA induced dyskinesias, and a good response to high dose L-DOPA therapy and respiratory support. The family was initially thought to have autosomal dominant behavioural variant frontotemporal dementia with parkinsonism. This report expands the clinical definition of this distinctive syndrome.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id><journal-id journal-id-type="pubmed-jr-id">5937</journal-id><journal-id journal-id-type="nlm-ta">Mov Disord</journal-id><journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id><journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title></journal-title-group><issn pub-type="ppub">0885-3185</issn><issn pub-type="epub">1531-8257</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20437543</article-id><article-id pub-id-type="pmc">4610057</article-id><article-id pub-id-type="doi">10.1002/mds.22950</article-id><article-id pub-id-type="manuscript">EMS65609</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Perry syndrome due to the DCTN1 G71R mutation – a distinctive L-DOPA responsive disorder with behavioural syndrome, vertical gaze palsy and respiratory failure</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Newsway</surname><given-names>Victoria</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Fish</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Rohrer</surname><given-names>Jonathan D.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Majounie</surname><given-names>Elisa</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Nigel</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hack</surname><given-names>Melissa</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Warren</surname><given-names>Jason</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Morris</surname><given-names>Huw R</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">#</xref></contrib></contrib-group><aff id="A1"><label>1</label>MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN UK</aff><aff id="A2"><label>2</label>Neurology Department, University Hospital of Wales, Cardiff, CF 14 4XN, UK</aff><aff id="A3"><label>3</label>Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK</aff><aff id="A4"><label>4</label>Gwent Sleep Centre, Royal Gwent Hospital, Cardiff Road, Newport, Gwent UK</aff><author-notes><corresp id="CR1"><label>#</label>Address for correspondence: Dr Huw R Morris, Neurology (C4), University Hospital of Wales, Cardiff CF14 4XN, Telephone +44 (0) 2920 743660 Fax +44 (0) 2920 744394, <email>morrishr@cf.ac.uk</email></corresp><fn id="FN1"><p id="P1"><bold>Author Roles</bold></p><p id="P2">1. Case Report A. Conception, B. Organization, C. Execution</p><p id="P3">2. Clinical data A. Collection, B. Interpretation, C. Review and Critique</p><p id="P4">3. Genetic data A. Sequence analysis, B. Interpretation</p><p id="P5">4. Manuscript A. Writing of first draft, B. Review and critique</p><p id="P6">Victoria Newsway: 3A, 3B, 4B</p><p id="P7">Mark Fish: 1B, 1C, 2B, 2C, 4A</p><p id="P8">Jonathan D Rohrer: 2A, 2B, 2C, 4B</p><p id="P9">Elisa Majounie: 3A, 3B</p><p id="P10">Nigel Williams: 3A, 3B</p><p id="P11">Melissa Hack: 2A, 2B, 2C, 4B</p><p id="P12">Jason Warren: 2A, 2B, 2C, 4B</p><p id="P13">Huw R Morris:1A, 1B, 2A, 2B, 2C, 3B, 4B</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>14</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="ppub"><day>30</day><month>4</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>19</day><month>10</month><year>2015</year></pub-date><volume>25</volume><issue>6</issue><fpage>767</fpage><lpage>770</lpage><pmc-comment>elocation-id from pubmed: 10.1002/mds.22950</pmc-comment>
<abstract><p id="P14">Perry syndrome is a rare form of autosomal dominant parkinsonism with respiratory failiure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant non-motor symptoms responsive to L-DOPA, distinctive cranio-cervical L-DOPA induced dyskinesias, and a good response to high dose L-DOPA therapy and respiratory support. The family was initially thought to have autosomal dominant behavioural variant frontotemporal dementia with parkinsonism. This report expands the clinical definition of this distinctive syndrome.</p></abstract><kwd-group><kwd>Perry Syndrome</kwd><kwd>Respiratory Failure</kwd><kwd>L-Dopa Responsive</kwd><kwd>Gaze Palsy</kwd><kwd>Dementia</kwd><kwd>Parkinsonism</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Hack, Melissa" sort="Hack, Melissa" uniqKey="Hack M" first="Melissa" last="Hack">Melissa Hack</name><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R" last="Morris">Huw R. Morris</name><name sortKey="Newsway, Victoria" sort="Newsway, Victoria" uniqKey="Newsway V" first="Victoria" last="Newsway">Victoria Newsway</name><name sortKey="Williams, Nigel" sort="Williams, Nigel" uniqKey="Williams N" first="Nigel" last="Williams">Nigel Williams</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Fish, Mark" sort="Fish, Mark" uniqKey="Fish M" first="Mark" last="Fish">Mark Fish</name></noRegion><name sortKey="Rohrer, Jonathan D" sort="Rohrer, Jonathan D" uniqKey="Rohrer J" first="Jonathan D." last="Rohrer">Jonathan D. Rohrer</name><name sortKey="Warren, Jason" sort="Warren, Jason" uniqKey="Warren J" first="Jason" last="Warren">Jason Warren</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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