A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
Identifieur interne : 003627 ( Istex/Corpus ); précédent : 003626; suivant : 003628A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy
Auteurs : Spiridon Papapetropoulos ; Jennifer Friedman ; Craig Blackstone ; Gary I. Kleiner ; Brian C. Bowen ; Carlos SingerSource :
- Movement Disorders [ 0885-3185 ] ; 2007-08-15.
English descriptors
Abstract
X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B‐cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia‐Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21631
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ISTEX:0B712CF686756E31717AA32DCDC2C6AD9AEA9A53Le document en format XML
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So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia‐Parkinsonism syndrome 14 years into his immune disorder. 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#af3"><personName><givenNames>Jennifer</givenNames><familyName>Friedman</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Craig</givenNames><familyName>Blackstone</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Gary I.</givenNames><familyName>Kleiner</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Brian C.</givenNames><familyName>Bowen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Carlos</givenNames><familyName>Singer</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Rady Children's Hospital, San Diego, California, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics University of Miami, Miller School of Medicine, Miami, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Radiology, University of Miami, Miller School of Medicine, Miami, Florida, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">extrapyramidal syndrome</keyword><keyword xml:id="kwd2">dystonia</keyword><keyword xml:id="kwd3">IVIG</keyword><keyword xml:id="kwd4">X‐linked agammaglobulinemia</keyword></keywordGroup><fundingInfo><fundingAgency>National Parkinson Foundation (Miami, FL)</fundingAgency></fundingInfo><supportingInformation><p> This article includes supplementary video clips, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url></p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds21631:mds21631-MDS21631"></mediaResource><caption>Segment 1.The video demonstrates the prominent features of the neurodegenerative syndrome in our patient: There is cognitive impairment, aphonia, supranuclear gaze palsy, and eyelid apraxia. Limb dystonia and bradykinesia with left side predominance are also noted. There is gait disturbance with freezing, start hesitation, and postural instability.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B‐cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia‐Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management. © 2007 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>A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Dystonia Parkinsonism and Immunodeficency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>A progressive, fatal dystonia‐Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy</title></titleInfo><name type="personal"><namePart type="given">Spiridon</namePart><namePart type="family">Papapetropoulos</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, USA</affiliation><description>Correspondence: Department of Neurology, University of Miami, Miller School of Medicine, 1501 NW 9th Avenue (NPF), Room 4004, Miami, FL 33136</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Friedman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Rady Children's Hospital, San Diego, California, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Craig</namePart><namePart type="family">Blackstone</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gary I.</namePart><namePart type="family">Kleiner</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pediatrics University of Miami, Miller School of Medicine, Miami, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brian C.</namePart><namePart type="family">Bowen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Radiology, University of Miami, Miller School of Medicine, Miami, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carlos</namePart><namePart type="family">Singer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, 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">2007-08-15</dateIssued><dateCaptured encoding="w3cdtf">2007-02-14</dateCaptured><dateValid encoding="w3cdtf">2007-05-18</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">1</extent><extent unit="references">14</extent><extent unit="words">1941</extent></physicalDescription><abstract lang="en">X‐linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe B‐cell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic central nervous system enteroviral infections. In the last few years a progressive neurodegenerative syndrome of unknown etiology has been described in XLA patients. We describe and present a video of an XLA patient who developed a fatal dementing, dystonia‐Parkinsonism syndrome 14 years into his immune disorder. Physician awareness of this rare syndrome may lead to its better characterization and management. © 2007 Movement Disorder Society</abstract><note type="funding">National Parkinson Foundation (Miami, FL)</note><subject lang="en"><genre>Keywords</genre><topic>extrapyramidal syndrome</topic><topic>dystonia</topic><topic>IVIG</topic><topic>X‐linked agammaglobulinemia</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 clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmatSupporting Info Item: Segment 1.The video demonstrates the prominent features of the neurodegenerative syndrome in our patient: There is cognitive impairment, aphonia, supranuclear gaze palsy, and eyelid apraxia. Limb dystonia and bradykinesia with left side predominance are also noted. There is gait disturbance with freezing, start hesitation, and postural instability. - </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>11</number></detail><extent unit="pages"><start>1664</start><end>1666</end><total>3</total></extent></part></relatedItem><identifier type="istex">0B712CF686756E31717AA32DCDC2C6AD9AEA9A53</identifier><identifier type="DOI">10.1002/mds.21631</identifier><identifier type="ArticleID">MDS21631</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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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