Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Identifieur interne : 000856 ( PubMed/Corpus ); précédent : 000855; suivant : 000857Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Auteurs : Aikaterina Angeli ; Niccolo E. Mencacci ; Raquel Duran ; Iciar Aviles-Olmos ; Zinovia Kefalopoulou ; Joseph Candelario ; Sarah Rusbridge ; Jennifer Foley ; Priyanka Pradhan ; Marjan Jahanshahi ; Ludvic Zrinzo ; Marwan Hariz ; Nicholas W. Wood ; John Hardy ; Patricia Limousin ; Tom FoltynieSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Child, Deep Brain Stimulation, Dopamine Agents (therapeutic use), Exons (genetics), Female, Gene Amplification, Genotype, Glucosylceramidase (genetics), Heterozygote, Humans, Levodopa (therapeutic use), Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (therapy), Phenotype, Polymerase Chain Reaction, Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), Young Adult.
- MESH :
- chemical , genetics : Glucosylceramidase, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Dopamine Agents, Levodopa.
- genetics : Exons, Mutation, Parkinson Disease.
- physiopathology : Parkinson Disease.
- therapy : Parkinson Disease.
- Adult, Age of Onset, Child, Deep Brain Stimulation, Female, Gene Amplification, Genotype, Heterozygote, Humans, Male, Middle Aged, Phenotype, Polymerase Chain Reaction, Young Adult.
Abstract
Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.
DOI: 10.1002/mds.25535
PubMed: 23818421
Links to Exploration step
pubmed:23818421Le document en format XML
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Mencacci</name></author><author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name></author><author><name sortKey="Aviles Olmos, Iciar" sort="Aviles Olmos, Iciar" uniqKey="Aviles Olmos I" first="Iciar" last="Aviles-Olmos">Iciar Aviles-Olmos</name></author><author><name sortKey="Kefalopoulou, Zinovia" sort="Kefalopoulou, Zinovia" uniqKey="Kefalopoulou Z" first="Zinovia" last="Kefalopoulou">Zinovia Kefalopoulou</name></author><author><name sortKey="Candelario, Joseph" sort="Candelario, Joseph" uniqKey="Candelario J" first="Joseph" last="Candelario">Joseph Candelario</name></author><author><name sortKey="Rusbridge, Sarah" sort="Rusbridge, Sarah" uniqKey="Rusbridge S" first="Sarah" last="Rusbridge">Sarah Rusbridge</name></author><author><name sortKey="Foley, Jennifer" sort="Foley, Jennifer" uniqKey="Foley J" first="Jennifer" last="Foley">Jennifer Foley</name></author><author><name sortKey="Pradhan, Priyanka" sort="Pradhan, Priyanka" uniqKey="Pradhan P" first="Priyanka" last="Pradhan">Priyanka Pradhan</name></author><author><name sortKey="Jahanshahi, Marjan" sort="Jahanshahi, Marjan" uniqKey="Jahanshahi M" first="Marjan" last="Jahanshahi">Marjan Jahanshahi</name></author><author><name sortKey="Zrinzo, Ludvic" sort="Zrinzo, Ludvic" uniqKey="Zrinzo L" first="Ludvic" last="Zrinzo">Ludvic Zrinzo</name></author><author><name sortKey="Hariz, Marwan" sort="Hariz, Marwan" uniqKey="Hariz M" first="Marwan" last="Hariz">Marwan Hariz</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Antiparkinson Agents (therapeutic use)</term><term>Child</term><term>Deep Brain Stimulation</term><term>Dopamine Agents (therapeutic use)</term><term>Exons (genetics)</term><term>Female</term><term>Gene Amplification</term><term>Genotype</term><term>Glucosylceramidase (genetics)</term><term>Heterozygote</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson Disease (therapy)</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Protein-Serine-Threonine Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Dopamine Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Deep Brain Stimulation</term><term>Female</term><term>Gene Amplification</term><term>Genotype</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23818421</PMID><DateCreated><Year>2013</Year><Month>09</Month><Day>30</Day></DateCreated><DateCompleted><Year>2014</Year><Month>05</Month><Day>09</Day></DateCompleted><DateRevised><Year>2015</Year><Month>02</Month><Day>24</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>10</Issue><PubDate><Year>2013</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.</ArticleTitle><Pagination><MedlinePgn>1370-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25535</ELocationID><Abstract><AbstractText>Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.</AbstractText><CopyrightInformation>© 2013 The Authors. Movement Disorders published by Wiley on behalf of The Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Angeli</LastName><ForeName>Aikaterina</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mencacci</LastName><ForeName>Niccolo E</ForeName><Initials>NE</Initials></Author><Author ValidYN="Y"><LastName>Duran</LastName><ForeName>Raquel</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Aviles-Olmos</LastName><ForeName>Iciar</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Kefalopoulou</LastName><ForeName>Zinovia</ForeName><Initials>Z</Initials></Author><Author ValidYN="Y"><LastName>Candelario</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Rusbridge</LastName><ForeName>Sarah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Foley</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Pradhan</LastName><ForeName>Priyanka</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Jahanshahi</LastName><ForeName>Marjan</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Zrinzo</LastName><ForeName>Ludvic</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Hariz</LastName><ForeName>Marwan</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Limousin</LastName><ForeName>Patricia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Foltynie</LastName><ForeName>Tom</ForeName><Initials>T</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>K-0901</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_G1000735</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>07</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000978">Antiparkinson Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015259">Dopamine Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</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><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>J Neurol. 2002 Feb;249(2):138-45</RefSource><PMID Version="1">11985378</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2013 Feb;136(Pt 2):392-9</RefSource><PMID Version="1">23413260</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Apr 1;70(14):1186-91</RefSource><PMID Version="1">18378882</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurosurgery. 2008 Apr;62(4):857-62; discussion 862-3</RefSource><PMID 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use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005784">Gene Amplification</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007980">Levodopa</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></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="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000628">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC3886301</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Parkinson's disease</Keyword><Keyword MajorTopicYN="N">deep brain stimulation</Keyword><Keyword MajorTopicYN="N">genetics</Keyword><Keyword MajorTopicYN="N">heterogeneity</Keyword><Keyword MajorTopicYN="N">phenotype</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>2</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>3</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>4</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>7</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>5</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">23818421</ArticleId><ArticleId IdType="doi">10.1002/mds.25535</ArticleId><ArticleId IdType="pmc">PMC3886301</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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