Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.
Identifieur interne : 001349 ( PubMed/Corpus ); précédent : 001348; suivant : 001350Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.
Auteurs : Helen Ling ; Mark Braschinsky ; Pille Taba ; Siiri-Merike Lüüs ; Karen Doherty ; Anna Hotter ; Werner Poewe ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Delayed Diagnosis, Diagnosis, Differential, Dystonic Disorders (diagnosis), Fatigue Syndrome, Chronic (diagnosis), Female, Gait Disorders, Neurologic (diagnosis), Humans, Levodopa (therapeutic use), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Time Factors, Ubiquitin-Protein Ligases (genetics), Young Adult.
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Dystonic Disorders, Fatigue Syndrome, Chronic, Gait Disorders, Neurologic, Parkinsonian Disorders.
- drug therapy : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Adult, Age of Onset, Delayed Diagnosis, Diagnosis, Differential, Female, Humans, Time Factors, Young Adult.
Abstract
We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.
DOI: 10.1002/mds.23563
PubMed: 21449012
Links to Exploration step
pubmed:21449012Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.</title><author><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name><affiliation><nlm:affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Braschinsky, Mark" sort="Braschinsky, Mark" uniqKey="Braschinsky M" first="Mark" last="Braschinsky">Mark Braschinsky</name></author><author><name sortKey="Taba, Pille" sort="Taba, Pille" uniqKey="Taba P" first="Pille" last="Taba">Pille Taba</name></author><author><name sortKey="Luus, Siiri Merike" sort="Luus, Siiri Merike" uniqKey="Luus S" first="Siiri-Merike" last="Lüüs">Siiri-Merike Lüüs</name></author><author><name sortKey="Doherty, Karen" sort="Doherty, Karen" uniqKey="Doherty K" first="Karen" last="Doherty">Karen Doherty</name></author><author><name sortKey="Hotter, Anna" sort="Hotter, Anna" uniqKey="Hotter A" first="Anna" last="Hotter">Anna Hotter</name></author><author><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23563</idno><idno type="RBID">pubmed:21449012</idno><idno type="pmid">21449012</idno><idno type="wicri:Area/PubMed/Corpus">001349</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.</title><author><name sortKey="Ling, Helen" sort="Ling, Helen" uniqKey="Ling H" first="Helen" last="Ling">Helen Ling</name><affiliation><nlm:affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Braschinsky, Mark" sort="Braschinsky, Mark" uniqKey="Braschinsky M" first="Mark" last="Braschinsky">Mark Braschinsky</name></author><author><name sortKey="Taba, Pille" sort="Taba, Pille" uniqKey="Taba P" first="Pille" last="Taba">Pille Taba</name></author><author><name sortKey="Luus, Siiri Merike" sort="Luus, Siiri Merike" uniqKey="Luus S" first="Siiri-Merike" last="Lüüs">Siiri-Merike Lüüs</name></author><author><name sortKey="Doherty, Karen" sort="Doherty, Karen" uniqKey="Doherty K" first="Karen" last="Doherty">Karen Doherty</name></author><author><name sortKey="Hotter, Anna" sort="Hotter, Anna" uniqKey="Hotter A" first="Anna" last="Hotter">Anna Hotter</name></author><author><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></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="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Antiparkinson Agents (therapeutic use)</term><term>Delayed Diagnosis</term><term>Diagnosis, Differential</term><term>Dystonic Disorders (diagnosis)</term><term>Fatigue Syndrome, Chronic (diagnosis)</term><term>Female</term><term>Gait Disorders, Neurologic (diagnosis)</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (genetics)</term><term>Time Factors</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term><term>Fatigue Syndrome, Chronic</term><term>Gait Disorders, Neurologic</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Delayed Diagnosis</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Time Factors</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21449012</PMID><DateCreated><Year>2011</Year><Month>06</Month><Day>21</Day></DateCreated><DateCompleted><Year>2011</Year><Month>11</Month><Day>02</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>7</Issue><PubDate><Year>2011</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients.</ArticleTitle><Pagination><MedlinePgn>1337-40</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23563</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap. DAT scanning supported the revised clinical diagnosis of parkinsonism. © 2011 Movement Disorder Society.</AbstractText><CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ling</LastName><ForeName>Helen</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Braschinsky</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Taba</LastName><ForeName>Pille</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Lüüs</LastName><ForeName>Siiri-Merike</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Doherty</LastName><ForeName>Karen</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Hotter</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Poewe</LastName><ForeName>Werner</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>03</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000978">Antiparkinson Agents</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D057210">Delayed Diagnosis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015673">Fatigue Syndrome, Chronic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020233">Gait Disorders, Neurologic</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000188">drug therapy</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013997">Time Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>9</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2010</Year><Month>11</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2010</Year><Month>11</Month><Day>8</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>3</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>3</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>3</Month><Day>31</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>11</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23563</ArticleId><ArticleId IdType="pubmed">21449012</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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