Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation
Identifieur interne : 000973 ( Main/Exploration ); précédent : 000972; suivant : 000974Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation
Auteurs : Aikaterina Angeli [Royaume-Uni] ; Niccolo E. Mencacci [Royaume-Uni, Italie] ; Raquel Duran [Royaume-Uni] ; Iciar Aviles-Olmos [Royaume-Uni] ; Zinovia Kefalopoulou [Royaume-Uni] ; Joseph Candelario [Royaume-Uni] ; Sarah Rusbridge [Royaume-Uni] ; Jennifer Foley [Royaume-Uni] ; Priyanka Pradhan [Royaume-Uni] ; Marjan Jahanshahi [Royaume-Uni] ; Ludvic Zrinzo [Royaume-Uni] ; Marwan Hariz [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Tom Foltynie [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 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 (
Url:
DOI: 10.1002/mds.25535
PubMed: 23818421
PubMed Central: 3886301
Affiliations:
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Marwan" sort="Hariz, Marwan" uniqKey="Hariz M" first="Marwan" last="Hariz">Marwan Hariz</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. 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Mencacci</name><affiliation wicri:level="3"><nlm:aff id="au2"><institution>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="au3"><institution>Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari” Centre, Università degli Studi di Milano-IRCCS Istituto Auxologico Italiano</institution><addr-line>Milan, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Milan</wicri:regionArea></affiliation></author><author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name><affiliation wicri:level="3"><nlm:aff id="au2"><institution>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Aviles Olmos, Iciar" sort="Aviles Olmos, Iciar" uniqKey="Aviles Olmos I" first="Iciar" last="Aviles-Olmos">Iciar Aviles-Olmos</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kefalopoulou, Zinovia" sort="Kefalopoulou, Zinovia" uniqKey="Kefalopoulou Z" first="Zinovia" last="Kefalopoulou">Zinovia Kefalopoulou</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Candelario, Joseph" sort="Candelario, Joseph" uniqKey="Candelario J" first="Joseph" last="Candelario">Joseph Candelario</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rusbridge, Sarah" sort="Rusbridge, Sarah" uniqKey="Rusbridge S" first="Sarah" last="Rusbridge">Sarah Rusbridge</name><affiliation wicri:level="3"><nlm:aff id="au4"><institution>Department of Neuropsychology, National Hospital for Neurology and Neurosurgery</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Foley, Jennifer" sort="Foley, Jennifer" uniqKey="Foley J" first="Jennifer" last="Foley">Jennifer Foley</name><affiliation wicri:level="3"><nlm:aff id="au4"><institution>Department of Neuropsychology, National Hospital for Neurology and Neurosurgery</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Pradhan, Priyanka" sort="Pradhan, Priyanka" uniqKey="Pradhan P" first="Priyanka" last="Pradhan">Priyanka Pradhan</name><affiliation wicri:level="3"><nlm:aff id="au4"><institution>Department of Neuropsychology, National Hospital for Neurology and Neurosurgery</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Jahanshahi, Marjan" sort="Jahanshahi, Marjan" uniqKey="Jahanshahi M" first="Marjan" last="Jahanshahi">Marjan Jahanshahi</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Zrinzo, Ludvic" sort="Zrinzo, Ludvic" uniqKey="Zrinzo L" first="Ludvic" last="Zrinzo">Ludvic Zrinzo</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hariz, Marwan" sort="Hariz, Marwan" uniqKey="Hariz M" first="Marwan" last="Hariz">Marwan Hariz</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name><affiliation wicri:level="3"><nlm:aff id="au2"><institution>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="3"><nlm:aff id="au2"><institution>Reta Lila Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><affiliation wicri:level="3"><nlm:aff id="au1"><institution>Sobell Department of Motor Neuroscience, University College London (UCL) Institute of Neurology</institution><addr-line>Queen Square, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2013">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"><p>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 (<sc>l</sc>-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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Foltynie, T" uniqKey="Foltynie T">T Foltynie</name></author><author><name sortKey="Brayne, C" uniqKey="Brayne C">C Brayne</name></author><author><name sortKey="Barker, Ra" uniqKey="Barker R">RA Barker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Volpicelli Daley, La" uniqKey="Volpicelli Daley L">LA Volpicelli-Daley</name></author><author><name sortKey="Luk, Kc" uniqKey="Luk K">KC Luk</name></author><author><name sortKey="Patel, Tp" uniqKey="Patel T">TP Patel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schapira, Ah" uniqKey="Schapira A">AH Schapira</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Aviles Olmos, I" uniqKey="Aviles Olmos I">I Aviles-Olmos</name></author><author><name sortKey="Limousin, P" uniqKey="Limousin P">P Limousin</name></author><author><name sortKey="Lees, A" uniqKey="Lees A">A Lees</name></author><author><name sortKey="Foltynie, T" uniqKey="Foltynie T">T Foltynie</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nalls, Ma" uniqKey="Nalls M">MA Nalls</name></author><author><name sortKey="Plagnol, V" uniqKey="Plagnol V">V Plagnol</name></author><author><name sortKey="Hernandez, Dg" uniqKey="Hernandez D">DG Hernandez</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Marras, C" uniqKey="Marras C">C Marras</name></author><author><name sortKey="Schule, B" uniqKey="Schule B">B Schule</name></author><author><name sortKey="Munhoz, Rp" uniqKey="Munhoz R">RP Munhoz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kim, Hj" uniqKey="Kim H">HJ 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Reiff</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Angeli, Aikaterina" sort="Angeli, Aikaterina" uniqKey="Angeli A" first="Aikaterina" last="Angeli">Aikaterina Angeli</name></region><name sortKey="Aviles Olmos, Iciar" sort="Aviles Olmos, Iciar" uniqKey="Aviles Olmos I" first="Iciar" last="Aviles-Olmos">Iciar Aviles-Olmos</name><name sortKey="Candelario, Joseph" sort="Candelario, Joseph" uniqKey="Candelario J" first="Joseph" last="Candelario">Joseph Candelario</name><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name><name sortKey="Foley, Jennifer" sort="Foley, Jennifer" uniqKey="Foley J" first="Jennifer" last="Foley">Jennifer Foley</name><name sortKey="Foltynie, Tom" sort="Foltynie, Tom" uniqKey="Foltynie T" first="Tom" last="Foltynie">Tom Foltynie</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Hariz, Marwan" sort="Hariz, Marwan" uniqKey="Hariz M" first="Marwan" last="Hariz">Marwan Hariz</name><name sortKey="Jahanshahi, Marjan" sort="Jahanshahi, Marjan" uniqKey="Jahanshahi M" first="Marjan" last="Jahanshahi">Marjan Jahanshahi</name><name sortKey="Kefalopoulou, Zinovia" sort="Kefalopoulou, Zinovia" uniqKey="Kefalopoulou Z" first="Zinovia" last="Kefalopoulou">Zinovia Kefalopoulou</name><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><name sortKey="Mencacci, Niccolo E" sort="Mencacci, Niccolo E" uniqKey="Mencacci N" first="Niccolo E" last="Mencacci">Niccolo E. Mencacci</name><name sortKey="Pradhan, Priyanka" sort="Pradhan, Priyanka" uniqKey="Pradhan P" first="Priyanka" last="Pradhan">Priyanka Pradhan</name><name sortKey="Rusbridge, Sarah" sort="Rusbridge, Sarah" uniqKey="Rusbridge S" first="Sarah" last="Rusbridge">Sarah Rusbridge</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name><name sortKey="Zrinzo, Ludvic" sort="Zrinzo, Ludvic" uniqKey="Zrinzo L" first="Ludvic" last="Zrinzo">Ludvic Zrinzo</name></country><country name="Italie"><noRegion><name sortKey="Mencacci, Niccolo E" sort="Mencacci, Niccolo E" uniqKey="Mencacci N" first="Niccolo E" last="Mencacci">Niccolo E. Mencacci</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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