Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening
Identifieur interne : 001032 ( PascalFrancis/Checkpoint ); précédent : 001031; suivant : 001033Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening
Auteurs : Jordi Clarimpn [Espagne] ; Javier Pagonabarraga [Espagne] ; Coro Paisan-Ruiz [États-Unis] ; Antonia Campolongo [Espagne] ; Berta Pascual-Sedano [Espagne] ; José-Félix Marti-Masso [Espagne] ; Andrew B. Singleton [États-Unis] ; Jaime Kulisevsky [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
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- Pascal (Inist)
English descriptors
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.
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Singleton</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0199280</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0199280 INIST</idno><idno type="RBID">Pascal:08-0199280</idno><idno type="wicri:Area/PascalFrancis/Corpus">001317</idno><idno type="wicri:Area/PascalFrancis/Curation">001A02</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001032</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening</title><author><name sortKey="Clarimpn, Jordi" sort="Clarimpn, Jordi" uniqKey="Clarimpn J" first="Jordi" last="Clarimpn">Jordi Clarimpn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Pagonabarraga, Javier" sort="Pagonabarraga, Javier" uniqKey="Pagonabarraga J" first="Javier" last="Pagonabarraga">Javier Pagonabarraga</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Campolongo, Antonia" sort="Campolongo, Antonia" uniqKey="Campolongo A" first="Antonia" last="Campolongo">Antonia Campolongo</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Pascual Sedano, Berta" sort="Pascual Sedano, Berta" uniqKey="Pascual Sedano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marti Masso, Jose Felix" sort="Marti Masso, Jose Felix" uniqKey="Marti Masso J" first="José-Félix" last="Marti-Masso">José-Félix Marti-Masso</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Servicio Neurología, Hospital Donostia</s1><s2>San Sebastián</s2><s3>ESP</s3><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>San Sebastián</wicri:noRegion></affiliation></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Medical screening</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinsonism</term><term>Tremor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Mutation</term><term>Dépistage</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>23</s2></fA05><fA06><s2>4</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Tremor Dominant Parkinsonism : Clinical Description and LRRK2 Mutation Screening</s1></fA08><fA11 i1="01" i2="1"><s1>CLARIMPN (Jordi)</s1></fA11><fA11 i1="02" i2="1"><s1>PAGONABARRAGA (Javier)</s1></fA11><fA11 i1="03" i2="1"><s1>PAISAN-RUIZ (Coro)</s1></fA11><fA11 i1="04" i2="1"><s1>CAMPOLONGO (Antonia)</s1></fA11><fA11 i1="05" i2="1"><s1>PASCUAL-SEDANO (Berta)</s1></fA11><fA11 i1="06" i2="1"><s1>MARTI-MASSO (José-Félix)</s1></fA11><fA11 i1="07" i2="1"><s1>SINGLETON (Andrew B.)</s1></fA11><fA11 i1="08" i2="1"><s1>KULISEVSKY (Jaime)</s1></fA11><fA14 i1="01"><s1>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Movement Disorders Unit Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></fA14><fA14 i1="03"><s1>Molecular Genetics Unit, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>7 aut.</sZ></fA14><fA14 i1="04"><s1>Servicio Neurología, Hospital Donostia</s1><s2>San Sebastián</s2><s3>ESP</s3><sZ>6 aut.</sZ></fA14><fA20><s1>518-523</s1></fA20><fA21><s1>2008</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000183361080050</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>40 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>08-0199280</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Tremblement</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Tremor</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Temblor</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Dépistage</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Medical screening</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Descubrimiento</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fN21><s1>126</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Espagne</li><li>États-Unis</li></country><region><li>Catalogne</li><li>Maryland</li></region><settlement><li>Barcelone</li></settlement></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Clarimpn, Jordi" sort="Clarimpn, Jordi" uniqKey="Clarimpn J" first="Jordi" last="Clarimpn">Jordi Clarimpn</name></region><name sortKey="Campolongo, Antonia" sort="Campolongo, Antonia" uniqKey="Campolongo A" first="Antonia" last="Campolongo">Antonia Campolongo</name><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name><name sortKey="Marti Masso, Jose Felix" sort="Marti Masso, Jose Felix" uniqKey="Marti Masso J" first="José-Félix" last="Marti-Masso">José-Félix Marti-Masso</name><name sortKey="Pagonabarraga, Javier" sort="Pagonabarraga, Javier" uniqKey="Pagonabarraga J" first="Javier" last="Pagonabarraga">Javier Pagonabarraga</name><name sortKey="Pascual Sedano, Berta" sort="Pascual Sedano, Berta" uniqKey="Pascual Sedano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name></region><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. 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