Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Identifieur interne : 003297 ( Istex/Corpus ); précédent : 003296; suivant : 003298Joubert syndrome surviving to adulthood associated with a progressive movement disorder
Auteurs : Steven A. Gunzler ; A. Jon Stoessl ; Robert A. Egan ; Richard G. Weleber ; Paul Wang ; John G. NuttSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
Abstract
A 48‐year‐old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide‐based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21263
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ISTEX:5CA6EAABEC9B08F08CA1809115BB297BBAD5F588Le document en format XML
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Gunzler</name><affiliation><mods:affiliation>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</mods:affiliation></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><mods:affiliation>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation></author><author><name sortKey="Egan, Robert A" sort="Egan, Robert A" uniqKey="Egan R" first="Robert A." last="Egan">Robert A. 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Nutt</name><affiliation><mods:affiliation>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide‐based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Steven A. Gunzler MD</name><affiliations><json:string>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</json:string><json:string>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</json:string></affiliations></json:item><json:item><name>A. Jon Stoessl MD</name><affiliations><json:string>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</json:string></affiliations></json:item><json:item><name>Robert A. Egan MD</name><affiliations><json:string>Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA</json:string></affiliations></json:item><json:item><name>Richard G. 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Nutt MD</name><affiliations><json:string>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</json:string><json:string>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Joubert syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>extrapyramidal</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>fluorodopa PET</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>oculomotor apraxia</value></json:item></subject><language><json:string>eng</json:string></language><abstract>A 48‐year‐old man presented with a progressive gait disorder. 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Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide‐based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. 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Masked facies, hypophonia, and dysarthria. Segment 2 . Mild tremor at rest. Segment 3 . Postural and action tremor, and dysmetria. Segment 4 . Rapid alternating movements are slow and uncoordinated. Segment 5 . Rapid repetitive finger movements have slow and irregular cadence and amplitude. Segment 6 . Oculomotor apraxia and sacchadic pursuits. Segment 7 . Difficulty initiating gait. Segment 8 . Ataxic, slow, shuffling gait. </caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>A 48‐year‐old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide‐based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Joubert syndrome surviving to adulthood associated with a progressive movement disorder</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Joubert Syndrome Presenting in an Adult</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Joubert syndrome surviving to adulthood associated with a progressive movement disorder</title></titleInfo><name type="personal"><namePart type="given">Steven A.</namePart><namePart type="family">Gunzler</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</affiliation><affiliation>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</affiliation><description>Correspondence: Oregon Health & Science University, Mail Code OP32, 3181 SW Sam Jackson Park Road, Portland, OR 97239</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A. Jon</namePart><namePart type="family">Stoessl</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert A.</namePart><namePart type="family">Egan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard G.</namePart><namePart type="family">Weleber</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul</namePart><namePart type="family">Wang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Diagnostic Radiology, Oregon Health & Science University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John G.</namePart><namePart type="family">Nutt</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Parkinson's Disease Research, Education, and Clinical Center (PADRECC), Portland VA Medical Center, Portland, Oregon, USA</affiliation><affiliation>Parkinson Center of Oregon, Oregon Health & Science University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-01-15</dateIssued><dateCaptured encoding="w3cdtf">2006-01-26</dateCaptured><dateValid encoding="w3cdtf">2006-08-18</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="references">15</extent><extent unit="words">2190</extent></physicalDescription><abstract lang="en">A 48‐year‐old man presented with a progressive gait disorder. He had longstanding ataxia, oculomotor apraxia, motor delay, and cognitive impairment, diagnosed as cerebral palsy. Physical examination revealed ataxia, oculomotor apraxia, extrapyramidal signs, and a wide‐based, shuffling gait. Magnetic resonance imaging showed vermian aplasia, consistent with Joubert syndrome. Positron emission tomography scan revealed normal fluorodopa uptake, but elevated raclopride binding, compatible with dopamine deficiency. This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs. © 2006 Movement Disorder Society</abstract><note type="funding">Parkinson Disease Research, Education, and Clinical Center (PADRECC)</note><note type="funding">Portland VA Medical Center</note><subject lang="en"><genre>Keywords</genre><topic>Joubert syndrome</topic><topic>ataxia</topic><topic>Parkinsonism</topic><topic>extrapyramidal</topic><topic>fluorodopa PET</topic><topic>oculomotor apraxia</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes Supplementary Video, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmatSupporting Info Item: Segment 1 . Masked facies, hypophonia, and dysarthria. Segment 2 . Mild tremor at rest. Segment 3 . Postural and action tremor, and dysmetria. Segment 4 . Rapid alternating movements are slow and uncoordinated. Segment 5 . Rapid repetitive finger movements have slow and irregular cadence and amplitude. Segment 6 . Oculomotor apraxia and sacchadic pursuits. Segment 7 . Difficulty initiating gait. Segment 8 . Ataxic, slow, shuffling gait. - </note><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>262</start><end>264</end><total>4</total></extent></part></relatedItem><identifier type="istex">5CA6EAABEC9B08F08CA1809115BB297BBAD5F588</identifier><identifier type="DOI">10.1002/mds.21263</identifier><identifier type="ArticleID">MDS21263</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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