A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier.
Identifieur interne : 000331 ( PubMed/Checkpoint ); précédent : 000330; suivant : 000332A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier.
Auteurs : Daryl J. Wile [Canada] ; Katie Dinelle [Canada] ; Nasim Vafai [Canada] ; Jessamyn Mckenzie [Canada] ; Joseph K. Tsui [Canada] ; Paul Schaffer [Canada] ; Yu-Shin Ding [États-Unis] ; Matthew Farrer [Canada] ; Vesna Sossi [Canada] ; A Jon Stoessl [Canada]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2016.
English descriptors
- KwdEn :
- Brain (metabolism), Brain (pathology), Dopamine (genetics), Dopamine (metabolism), Female, Heterozygote, Humans, Leucine (metabolism), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (genetics), Middle Aged, Mutation (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (pathology), Positron-Emission Tomography (methods), Radionuclide Imaging.
- MESH :
- chemical , genetics : Dopamine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- diagnosis : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- metabolism : Brain, Dopamine, Leucine.
- methods : Positron-Emission Tomography.
- pathology : Brain, Parkinson Disease.
- Female, Heterozygote, Humans, Middle Aged, Radionuclide Imaging.
Abstract
The basis for SWEDD is unclear, with most cases representing PD mimics but some later developing PD with a dopaminergic deficit.
DOI: 10.1002/mds.26450
PubMed: 26685774
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:26685774Le document en format XML
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Wile</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Dinelle, Katie" sort="Dinelle, Katie" uniqKey="Dinelle K" first="Katie" last="Dinelle">Katie Dinelle</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Vafai, Nasim" sort="Vafai, Nasim" uniqKey="Vafai N" first="Nasim" last="Vafai">Nasim Vafai</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Mckenzie, Jessamyn" sort="Mckenzie, Jessamyn" uniqKey="Mckenzie J" first="Jessamyn" last="Mckenzie">Jessamyn Mckenzie</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Tsui, Joseph K" sort="Tsui, Joseph K" uniqKey="Tsui J" first="Joseph K" last="Tsui">Joseph K. Tsui</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Schaffer, Paul" sort="Schaffer, Paul" uniqKey="Schaffer P" first="Paul" last="Schaffer">Paul Schaffer</name><affiliation wicri:level="1"><nlm:affiliation>TRIUMF, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>TRIUMF, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Ding, Yu Shin" sort="Ding, Yu Shin" uniqKey="Ding Y" first="Yu-Shin" last="Ding">Yu-Shin Ding</name><affiliation wicri:level="2"><nlm:affiliation>New York University School of Medicine, New York, New York, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>New York University School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Sossi, Vesna" sort="Sossi, Vesna" uniqKey="Sossi V" first="Vesna" last="Sossi">Vesna Sossi</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name><affiliation wicri:level="1"><nlm:affiliation>University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></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="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Dopamine (genetics)</term><term>Dopamine (metabolism)</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Leucine (metabolism)</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (genetics)</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Positron-Emission Tomography (methods)</term><term>Radionuclide Imaging</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Dopamine</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Dopamine</term><term>Leucine</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Middle Aged</term><term>Radionuclide Imaging</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The basis for SWEDD is unclear, with most cases representing PD mimics but some later developing PD with a dopaminergic deficit.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26685774</PMID><DateCreated><Year>2016</Year><Month>03</Month><Day>08</Day></DateCreated><DateCompleted><Year>2016</Year><Month>12</Month><Day>15</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>31</Volume><Issue>3</Issue><PubDate><Year>2016</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier.</ArticleTitle><Pagination><MedlinePgn>405-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26450</ELocationID><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">The basis for SWEDD is unclear, with most cases representing PD mimics but some later developing PD with a dopaminergic deficit.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We studied a patient initially diagnosed with SWEDD (based on (18)F-dopa PET) who developed unequivocal PD associated with a leucine-rich repeat kinase 2 p.G2019S mutation. Repeat multitracer PET was performed at 17 years' disease duration, including (+)[11C]dihydrotetrabenazine, [11C](N,N-dimethyl-2-(2-amino-4-cyanophenylthio) benzylamine (which binds the serotonin transporter), and (18)F-dopa.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The patient showed bilateral striatal dopaminergic denervation (right putamen 28% of age-matched normal, left putamen 33%). (18)F-dopa uptake was decreased, particularly on the left (mean 31% of normal vs. 45% on the more affected right side). Serotonin transporter binding was relatively preserved in the putamen (right mean 90% of normal, left 81%) and several cortical regions.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">SWEDD can occur in genetically determined PD and may, in some cases, be the result of compensatory nondopaminergic mechanisms operating in early disease.</AbstractText><CopyrightInformation>© 2015 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wile</LastName><ForeName>Daryl J</ForeName><Initials>DJ</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dinelle</LastName><ForeName>Katie</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vafai</LastName><ForeName>Nasim</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McKenzie</LastName><ForeName>Jessamyn</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tsui</LastName><ForeName>Joseph K</ForeName><Initials>JK</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schaffer</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>TRIUMF, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ding</LastName><ForeName>Yu-Shin</ForeName><Initials>YS</Initials><AffiliationInfo><Affiliation>New York University School of Medicine, New York, New York, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sossi</LastName><ForeName>Vesna</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stoessl</LastName><ForeName>A Jon</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P41 EB017183</GrantID><Acronym>EB</Acronym><Agency>NIBIB NIH HHS</Agency><Country>United States</Country></Grant><Grant><Agency>Canadian Institutes of Health Research</Agency><Country>Canada</Country></Grant></GrantList><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>2015</Year><Month>12</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance></Chemical><Chemical><RegistryNumber>GMW67QNF9C</RegistryNumber><NameOfSubstance UI="D007930">Leucine</NameOfSubstance></Chemical><Chemical><RegistryNumber>VTD58H1Z2X</RegistryNumber><NameOfSubstance UI="D004298">Dopamine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2003 Jul;54(1):93-101</RefSource><PMID Version="1">12838524</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Pharmacol. 1995 Dec 29;294(2-3):577-83</RefSource><PMID Version="1">8750721</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol. 2011 Jan;258(1):19-26</RefSource><PMID Version="1">20644949</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Cereb Blood Flow Metab. 1985 Dec;5(4):584-90</RefSource><PMID Version="1">4055928</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurobiol Dis. 2010 Oct;40(1):216-21</RefSource><PMID 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MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004298" MajorTopicYN="N">Dopamine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007930" MajorTopicYN="N">Leucine</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000071158" MajorTopicYN="N">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D049268" MajorTopicYN="N">Positron-Emission Tomography</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011877" MajorTopicYN="N">Radionuclide Imaging</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS790350</OtherID><OtherID Source="NLM">PMC4894497</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">LRRK2</Keyword><Keyword MajorTopicYN="N">Parkinson's disease</Keyword><Keyword MajorTopicYN="N">SWEDD</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>07</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>09</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>09</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>12</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26685774</ArticleId><ArticleId IdType="doi">10.1002/mds.26450</ArticleId><ArticleId IdType="pmc">PMC4894497</ArticleId><ArticleId IdType="mid">NIHMS790350</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="Canada"><noRegion><name sortKey="Wile, Daryl J" sort="Wile, Daryl J" uniqKey="Wile D" first="Daryl J" last="Wile">Daryl J. Wile</name></noRegion><name sortKey="Dinelle, Katie" sort="Dinelle, Katie" uniqKey="Dinelle K" first="Katie" last="Dinelle">Katie Dinelle</name><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Mckenzie, Jessamyn" sort="Mckenzie, Jessamyn" uniqKey="Mckenzie J" first="Jessamyn" last="Mckenzie">Jessamyn Mckenzie</name><name sortKey="Schaffer, Paul" sort="Schaffer, Paul" uniqKey="Schaffer P" first="Paul" last="Schaffer">Paul Schaffer</name><name sortKey="Sossi, Vesna" sort="Sossi, Vesna" uniqKey="Sossi V" first="Vesna" last="Sossi">Vesna Sossi</name><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name><name sortKey="Tsui, Joseph K" sort="Tsui, Joseph K" uniqKey="Tsui J" first="Joseph K" last="Tsui">Joseph K. Tsui</name><name sortKey="Vafai, Nasim" sort="Vafai, Nasim" uniqKey="Vafai N" first="Nasim" last="Vafai">Nasim Vafai</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Ding, Yu Shin" sort="Ding, Yu Shin" uniqKey="Ding Y" first="Yu-Shin" last="Ding">Yu-Shin Ding</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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