Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
Identifieur interne : 001A45 ( Istex/Corpus ); précédent : 001A44; suivant : 001A46Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
Auteurs : Elka Stefanova ; Ana Djarmati ; Dragana Mom Ilovi ; Nataša Dragaševi ; Marina Svetel ; Christine Klein ; Vladimir S. KostiSource :
- Movement Disorders [ 0885-3185 ] ; 2006-11.
English descriptors
Abstract
The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR‐1), which causes an alanine‐to‐valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR‐1 mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21095
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ISTEX:DDF3FA83609427EE223D1165BC2758ECBABCC377Le document en format XML
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In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR‐1 mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Elka Stefanova MD, PhD</name><affiliations><json:string>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Ana Djarmati PhD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Dragana Momčilović MD</name><affiliations><json:string>Institute of Pediatric Neurology, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Nataša Dragašević MD, PhD</name><affiliations><json:string>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Marina Svetel MD, PhD</name><affiliations><json:string>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Christine Klein MD, PhD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Vladimir S. 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Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. 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In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. 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Dr Subotića 6, 11000 Belgrade, Serbia and Montenegro</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21095.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="13"></count><count type="wordTotal" number="3206"></count></countGroup><titleGroup><title type="main" xml:lang="en">Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with <i>Myofibrillogenesis regulator 1</i> gene mutation</title><title type="short" xml:lang="en">MR‐1 Mutation and PNKD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Elka</givenNames><familyName>Stefanova</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Ana</givenNames><familyName>Djarmati</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Dragana</givenNames><familyName>Momčilović</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Nataša</givenNames><familyName>Dragašević</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Marina</givenNames><familyName>Svetel</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Vladimir S.</givenNames><familyName>Kostić</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>vkostic@sbb.co.yu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="RS" type="organization"><unparsedAffiliation>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="RS" type="organization"><unparsedAffiliation>Institute of Pediatric Neurology, Belgrade, Serbia and Montenegro</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">paroxysmal nonkinesigenic dyskinesia</keyword><keyword xml:id="kwd2"><i>MR‐1</i> mutation</keyword></keywordGroup><fundingInfo><fundingAgency>Ministry of Science, Republic of Serbia</fundingAgency><fundingNumber>1988</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Deutsche Dystonic Gesellschaft</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Deutsche Forschungsgemeinschaft</fundingAgency><fundingNumber>KI‐1134/3‐1</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Volkswagen Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the <i>Myofibrillogenesis regulator 1</i> gene (<i>MR‐1</i>), which causes an alanine‐to‐valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent <i>MR‐1</i> mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>MR‐1 Mutation and PNKD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with</title></titleInfo><name type="personal"><namePart type="given">Elka</namePart><namePart type="family">Stefanova</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ana</namePart><namePart type="family">Djarmati</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dragana</namePart><namePart type="family">Momčilović</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Pediatric Neurology, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nataša</namePart><namePart type="family">Dragašević</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina</namePart><namePart type="family">Svetel</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vladimir S.</namePart><namePart type="family">Kostić</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institute of Neurology Clinical Center of Serbia, Belgrade, Serbia and Montenegro</affiliation><description>Correspondence: Institute of Neurology CCS, Ul. Dr Subotića 6, 11000 Belgrade, Serbia and Montenegro</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">2006-11</dateIssued><dateCaptured encoding="w3cdtf">2006-03-03</dateCaptured><dateValid encoding="w3cdtf">2006-05-09</dateValid><copyrightDate encoding="w3cdtf">2006</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">13</extent><extent unit="words">3206</extent></physicalDescription><abstract lang="en">The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR‐1), which causes an alanine‐to‐valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR‐1 mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society</abstract><note type="funding">Ministry of Science, Republic of Serbia - No. 1988; </note><note type="funding">Deutsche Dystonic Gesellschaft</note><note type="funding">Deutsche Forschungsgemeinschaft - No. KI‐1134/3‐1; </note><note type="funding">Volkswagen Foundation</note><subject lang="en"><genre>Keywords</genre><topic>paroxysmal nonkinesigenic dyskinesia</topic><topic>MR‐1 mutation</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><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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>2010</start><end>2015</end><total>4</total></extent></part></relatedItem><identifier type="istex">DDF3FA83609427EE223D1165BC2758ECBABCC377</identifier><identifier type="DOI">10.1002/mds.21095</identifier><identifier type="ArticleID">MDS21095</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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