Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Identifieur interne : 000927 ( Main/Corpus ); précédent : 000926; suivant : 000928Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
Auteurs : Jordi Clarim N ; Javier Pagonabarraga ; Coro Paisán-Ruíz ; Antonia Campolongo ; Berta Pascual-Sedano ; José-Félix Martí-Mass ; Andrew B. Singleton ; Jaime KulisevskySource :
- Movement Disorders [ 0885-3185 ] ; 2008-03-15.
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Abstract
Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I‐Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co‐occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine‐rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21771
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No. PI051916;</note><note>General Electric Spain</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening</title><author><persName><forename type="first">Jordi</forename><surname>Clarimón</surname></persName><roleName type="degree">PhD</roleName><note type="biography">Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</note><affiliation>Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</affiliation><affiliation>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Javier</forename><surname>Pagonabarraga</surname></persName><roleName type="degree">MD</roleName><note type="biography">Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</note><affiliation>Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</affiliation><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Coro</forename><surname>Paisán‐Ruíz</surname></persName><roleName type="degree">PhD</roleName><affiliation>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Antonia</forename><surname>Campolongo</surname></persName><roleName type="degree">BSc</roleName><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation></author><author><persName><forename type="first">Berta</forename><surname>Pascual‐Sedano</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation></author><author><persName><forename type="first">José‐Félix</forename><surname>Martí‐Massó</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Servicio Neurología, Hospital Donostia, San Sebastián, Spain</affiliation></author><author><persName><forename type="first">Andrew B.</forename><surname>Singleton</surname></persName><roleName type="degree">PhD</roleName><affiliation>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Jaime</forename><surname>Kulisevsky</surname></persName><roleName type="degree">MD, PhD</roleName><note type="correspondence"><p>Correspondence: Movement Disorders Unit, Neurology Department, Sant Pau Hospital, Sant Antoni M. 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Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>tremor dominant parkinsonism</term></item><item><term>Parkinson</term></item><item><term>tremor</term></item><item><term>LRRK2</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-05-08">Received</change><change when="2007-09-14">Registration</change><change when="2008-03-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/77C861E6D3099D795D52B0B039F227DCC069D7C0/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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Claret, 167‐08025 Barcelona, Spain</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21771.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="40"></count><count type="wordTotal" number="4570"></count></countGroup><titleGroup><title type="main" xml:lang="en">Tremor dominant parkinsonism: Clinical description and <i>LRRK2</i> mutation screening</title><title type="short" xml:lang="en"><fi>LRRK2</fi> in Benign Tremulous Parkinsonism</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Jordi</givenNames><familyName>Clarimón</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2" noteRef="#fn1"><personName><givenNames>Javier</givenNames><familyName>Pagonabarraga</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Coro</givenNames><familyName>Paisán‐Ruíz</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Antonia</givenNames><familyName>Campolongo</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Berta</givenNames><familyName>Pascual‐Sedano</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>José‐Félix</givenNames><familyName>Martí‐Massó</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Andrew B.</givenNames><familyName>Singleton</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2" corresponding="yes"><personName><givenNames>Jaime</givenNames><familyName>Kulisevsky</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>jkulisevsky@santpau.es</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="ES" type="organization"><unparsedAffiliation>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="ES" type="organization"><unparsedAffiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="ES" type="organization"><unparsedAffiliation>Servicio Neurología, Hospital Donostia, San Sebastián, Spain</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">tremor dominant parkinsonism</keyword><keyword xml:id="kwd2">Parkinson</keyword><keyword xml:id="kwd3">tremor</keyword><keyword xml:id="kwd4">LRRK2</keyword></keywordGroup><fundingInfo><fundingAgency>‘Ciberned’, Programa Consolider</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Ministerio de Sanidad y Consumo</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Fondo de Investigaciones Sanitarias</fundingAgency><fundingNumber>PI051916</fundingNumber></fundingInfo><fundingInfo><fundingAgency>General Electric Spain</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I‐Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co‐occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine‐rich repeat kinase 2 gene (<i>LRRK2</i>) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to <i>LRRK2</i> mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LRRK2 in Benign Tremulous Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Tremor dominant parkinsonism: Clinical description and</title></titleInfo><name type="personal"><namePart type="given">Jordi</namePart><namePart type="family">Clarimón</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation><description>Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Javier</namePart><namePart type="family">Pagonabarraga</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation><description>Dr. Clarimon and Dr. Pagonabarraga contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Coro</namePart><namePart type="family">Paisán‐Ruíz</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonia</namePart><namePart type="family">Campolongo</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Berta</namePart><namePart type="family">Pascual‐Sedano</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">José‐Félix</namePart><namePart type="family">Martí‐Massó</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Servicio Neurología, Hospital Donostia, San Sebastián, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew B.</namePart><namePart type="family">Singleton</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jaime</namePart><namePart type="family">Kulisevsky</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain</affiliation><description>Correspondence: Movement Disorders Unit, Neurology Department, Sant Pau Hospital, Sant Antoni M. Claret, 167‐08025 Barcelona, Spain</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2008-03-15</dateIssued><dateCaptured encoding="w3cdtf">2007-05-08</dateCaptured><dateValid encoding="w3cdtf">2007-09-14</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">40</extent><extent unit="words">4570</extent></physicalDescription><abstract lang="en">Tremor dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic Parkinson's disease (PD). We report on clinical features and longitudinal course of 26 patients suffering from TDP. Mean disease duration was 6.5 ± 3 years, 61.5% of patients had a positive family history of tremor, 73% did not need drug treatment, performance of 123I‐Ioflupane SPECT showed reduced striatal tracer uptake in 65.4% of patients, and odor identification testing was pathologic in all the patients tested (n = 22). Co‐occurrence of action and resting tremor were the most annoying and disabling symptoms in all the patients, whereas rigidity and/or bradykinesia were clinically irrelevant in most of them. We also sequenced the full coding region of the Leucine‐rich repeat kinase 2 gene (LRRK2) in all patients. We found a novel Val2390Met mutation that was not found in 864 chromosomes. Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. © 2007 Movement Disorder Society</abstract><note type="funding">‘Ciberned’, Programa Consolider</note><note type="funding">Ministerio de Sanidad y Consumo</note><note type="funding">Fondo de Investigaciones Sanitarias - No. PI051916; </note><note type="funding">General Electric Spain</note><subject lang="en"><genre>Keywords</genre><topic>tremor dominant parkinsonism</topic><topic>Parkinson</topic><topic>tremor</topic><topic>LRRK2</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. 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