Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.
Identifieur interne : 000163 ( PubMed/Curation ); précédent : 000162; suivant : 000164Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.
Auteurs : Hao Deng [États-Unis] ; Weidong Le ; Maosheng Huang ; Wenjie Xie ; Tianghong Pan ; Joseph JankovicSource :
- Neuroscience letters [ 0304-3940 ] ; 2007.
English descriptors
- KwdEn :
- Aged, Brain (metabolism), Brain (physiopathology), Brain Chemistry (genetics), DNA Mutational Analysis, European Continental Ancestry Group (genetics), Female, Gene Frequency, Genetic Markers (genetics), Genetic Predisposition to Disease (genetics), Genetic Testing, Genotype, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (ethnology), Parkinson Disease (genetics), Predictive Value of Tests, Protein-Serine-Threonine Kinases (genetics).
- MESH :
- chemical , genetics : Genetic Markers, Protein-Serine-Threonine Kinases.
- ethnology : Parkinson Disease.
- genetics : Brain Chemistry, European Continental Ancestry Group, Genetic Predisposition to Disease, Mutation, Parkinson Disease.
- metabolism : Brain.
- physiopathology : Brain.
- Aged, DNA Mutational Analysis, Female, Gene Frequency, Genetic Testing, Genotype, Humans, Male, Middle Aged, Predictive Value of Tests.
Abstract
Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.
DOI: 10.1016/j.neulet.2007.04.026
PubMed: 17482357
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000163
Links to Exploration step
pubmed:17482357Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.</title><author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea></affiliation></author><author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name></author><author><name sortKey="Huang, Maosheng" sort="Huang, Maosheng" uniqKey="Huang M" first="Maosheng" last="Huang">Maosheng Huang</name></author><author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name></author><author><name sortKey="Pan, Tianghong" sort="Pan, Tianghong" uniqKey="Pan T" first="Tianghong" last="Pan">Tianghong Pan</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1016/j.neulet.2007.04.026</idno><idno type="RBID">pubmed:17482357</idno><idno type="pmid">17482357</idno><idno type="wicri:Area/PubMed/Corpus">000163</idno><idno type="wicri:Area/PubMed/Curation">000163</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.</title><author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea></affiliation></author><author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name></author><author><name sortKey="Huang, Maosheng" sort="Huang, Maosheng" uniqKey="Huang M" first="Maosheng" last="Huang">Maosheng Huang</name></author><author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name></author><author><name sortKey="Pan, Tianghong" sort="Pan, Tianghong" uniqKey="Pan T" first="Tianghong" last="Pan">Tianghong Pan</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></author></analytic><series><title level="j">Neuroscience letters</title><idno type="ISSN">0304-3940</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Brain (metabolism)</term><term>Brain (physiopathology)</term><term>Brain Chemistry (genetics)</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Markers (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Predictive Value of Tests</term><term>Protein-Serine-Threonine Kinases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Chemistry</term><term>European Continental Ancestry Group</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Predictive Value of Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17482357</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>15</Day></DateCreated><DateCompleted><Year>2007</Year><Month>08</Month><Day>01</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0304-3940</ISSN><JournalIssue CitedMedium="Print"><Volume>419</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>May</Month><Day>29</Day></PubDate></JournalIssue><Title>Neuroscience letters</Title><ISOAbbreviation>Neurosci. Lett.</ISOAbbreviation></Journal><ArticleTitle>Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>104-7</MedlinePgn></Pagination><Abstract><AbstractText>Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Deng</LastName><ForeName>Hao</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Le</LastName><ForeName>Weidong</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Huang</LastName><ForeName>Maosheng</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Xie</LastName><ForeName>Wenjie</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Pan</LastName><ForeName>Tianghong</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS 043567</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2007</Year><Month>04</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>Ireland</Country><MedlineTA>Neurosci Lett</MedlineTA><NlmUniqueID>7600130</NlmUniqueID><ISSNLinking>0304-3940</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001923">Brain Chemistry</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044465">European Continental Ancestry Group</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011237">Predictive Value of Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2007</Year><Month>3</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2007</Year><Month>4</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2007</Year><Month>4</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>5</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>8</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>5</Month><Day>8</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">S0304-3940(07)00454-5</ArticleId><ArticleId IdType="doi">10.1016/j.neulet.2007.04.026</ArticleId><ArticleId IdType="pubmed">17482357</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/JankovicV1/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000163 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000163 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= JankovicV1
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:17482357
|texte= Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:17482357" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a JankovicV1
| This area was generated with Dilib version V0.6.19. |  |