Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.
Identifieur interne : 001F80 ( Ncbi/Merge ); précédent : 001F79; suivant : 001F81Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.
Auteurs : Jordi Clarim N [Espagne] ; Javier Pagonabarraga ; Coro Paisán-Ruíz ; Antonia Campolongo ; Berta Pascual-Sedano ; José-Félix Martí-Mass ; Andrew B. Singleton ; Jaime KulisevskySource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Corpus Striatum (metabolism), Corpus Striatum (physiopathology), DNA Mutational Analysis, Female, Genetic Testing, Humans, Male, Middle Aged, Nortropanes (diagnostic use), Nortropanes (pharmacokinetics), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Point Mutation (genetics), Posture, Prognosis, Prospective Studies, Protein-Serine-Threonine Kinases (genetics), Radiopharmaceuticals (diagnostic use), Radiopharmaceuticals (pharmacokinetics), Rest, Retrospective Studies, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon, Tremor (diagnosis), Tremor (epidemiology), Tremor (physiopathology).
- MESH :
- chemical , diagnostic use : Nortropanes, Radiopharmaceuticals.
- diagnosis : Tremor.
- epidemiology : Parkinsonian Disorders, Tremor.
- genetics : Parkinsonian Disorders, Point Mutation, Protein-Serine-Threonine Kinases.
- metabolism : Corpus Striatum.
- chemical , pharmacokinetics : Nortropanes, Radiopharmaceuticals.
- physiopathology : Corpus Striatum, Parkinsonian Disorders, Tremor.
- Aged, Aged, 80 and over, DNA Mutational Analysis, Female, Genetic Testing, Humans, Male, Middle Aged, Posture, Prognosis, Prospective Studies, Rest, Retrospective Studies, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon.
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.
DOI: 10.1002/mds.21771
PubMed: 18098275
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Singleton</name></author><author><name sortKey="Kulisevsky, Jaime" sort="Kulisevsky, Jaime" uniqKey="Kulisevsky J" first="Jaime" last="Kulisevsky">Jaime Kulisevsky</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (physiopathology)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nortropanes (diagnostic use)</term><term>Nortropanes (pharmacokinetics)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Point Mutation (genetics)</term><term>Posture</term><term>Prognosis</term><term>Prospective Studies</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Radiopharmaceuticals (diagnostic use)</term><term>Radiopharmaceuticals (pharmacokinetics)</term><term>Rest</term><term>Retrospective Studies</term><term>Severity of Illness Index</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tremor (diagnosis)</term><term>Tremor (epidemiology)</term><term>Tremor (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Nortropanes</term><term>Radiopharmaceuticals</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term><term>Point Mutation</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Striatum</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Nortropanes</term><term>Radiopharmaceuticals</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Parkinsonian Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Posture</term><term>Prognosis</term><term>Prospective Studies</term><term>Rest</term><term>Retrospective Studies</term><term>Severity of Illness Index</term><term>Tomography, Emission-Computed, Single-Photon</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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18098275</PMID><DateCreated><Year>2008</Year><Month>04</Month><Day>03</Day></DateCreated><DateCompleted><Year>2008</Year><Month>07</Month><Day>22</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>4</Issue><PubDate><Year>2008</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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.</AbstractText><CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Clarimón</LastName><ForeName>Jordi</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pagonabarraga</LastName><ForeName>Javier</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Paisán-Ruíz</LastName><ForeName>Coro</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Campolongo</LastName><ForeName>Antonia</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Pascual-Sedano</LastName><ForeName>Berta</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Martí-Massó</LastName><ForeName>José-Félix</ForeName><Initials>JF</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Kulisevsky</LastName><ForeName>Jaime</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov 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MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019275">Radiopharmaceuticals</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000176">diagnostic use</QualifierName><QualifierName MajorTopicYN="N" UI="Q000493">pharmacokinetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012146">Rest</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012189">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015899">Tomography, Emission-Computed, Single-Photon</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>12</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>7</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>12</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21771</ArticleId><ArticleId IdType="pubmed">18098275</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Espagne</li></country><region><li>Catalogne</li></region><settlement><li>Barcelone</li></settlement></list><tree><noCountry><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 Mass, Jose Felix" sort="Marti Mass, Jose Felix" uniqKey="Marti Mass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name><name sortKey="Pagonabarraga, Javier" sort="Pagonabarraga, Javier" uniqKey="Pagonabarraga J" first="Javier" last="Pagonabarraga">Javier Pagonabarraga</name><name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisán-Ruíz">Coro Paisán-Ruíz</name><name sortKey="Pascual Sedano, Berta" sort="Pascual Sedano, Berta" uniqKey="Pascual Sedano B" first="Berta" last="Pascual-Sedano">Berta Pascual-Sedano</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></noCountry><country name="Espagne"><region name="Catalogne"><name sortKey="Clarim N, Jordi" sort="Clarim N, Jordi" uniqKey="Clarim N J" first="Jordi" last="Clarim N">Jordi Clarim N</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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