Chorea‐acanthocytosis: Report of two Brazilian cases
Identifieur interne : 001113 ( Istex/Corpus ); précédent : 001112; suivant : 001114Chorea‐acanthocytosis: Report of two Brazilian cases
Auteurs : Guilherme Riccioppo Rodrigues ; Ruth H. Walker ; Benedikt Bader ; Adrian Danek ; Wilson Marques Jr ; Vitor TumasSource :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
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Abstract
Chorea‐acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22305
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This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Guilherme Riccioppo Rodrigues MD</name><affiliations><json:string>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil</json:string></affiliations></json:item><json:item><name>Ruth H. Walker MB, ChB, PhD</name><affiliations><json:string>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York. 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This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. 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Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York. USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, Ludwig‐Maximilians‐Universität, München, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Chorea‐acanthocytosis</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Chorea‐acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of <i>VPS13A</i>. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Chorea‐acanthocytosis: Report of two Brazilian cases</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Chorea‐Acanthocytosis</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Chorea‐acanthocytosis: Report of two Brazilian cases</title></titleInfo><name type="personal"><namePart type="given">Guilherme Riccioppo</namePart><namePart type="family">Rodrigues</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruth H.</namePart><namePart type="family">Walker</namePart><namePart type="termsOfAddress">MB, ChB, PhD</namePart><affiliation>Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York. USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Benedikt</namePart><namePart type="family">Bader</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Ludwig‐Maximilians‐Universität, München, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian</namePart><namePart type="family">Danek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Ludwig‐Maximilians‐Universität, München, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wilson</namePart><namePart type="family">Marques Jr</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vitor</namePart><namePart type="family">Tumas</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil</affiliation><description>Correspondence: Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Campus Universitário, Bairro Monte Alegre, Ribeirão Preto, SP, Brazil–CEP: 14049‐900</description><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">2008-10-30</dateIssued><dateCaptured encoding="w3cdtf">2008-01-07</dateCaptured><dateValid encoding="w3cdtf">2008-08-08</dateValid><copyrightDate encoding="w3cdtf">2008</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="tables">1</extent><extent unit="references">10</extent><extent unit="words">1931</extent></physicalDescription><abstract lang="en">Chorea‐acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36‐year‐old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60‐year‐old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><subject lang="en"><genre>Keywords</genre><topic>Chorea‐acanthocytosis</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"> Additional Supporting Information may be found in the online version of this article.</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>2008</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>14</number></detail><extent unit="pages"><start>2090</start><end>2093</end><total>4</total></extent></part></relatedItem><identifier type="istex">2377C5BCD73CA1224CD138F2FC4B51E3151E81D6</identifier><identifier type="DOI">10.1002/mds.22305</identifier><identifier type="ArticleID">MDS22305</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 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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