Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
Identifieur interne : 003294 ( Main/Exploration ); précédent : 003293; suivant : 003295Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
Auteurs : Denise M. Kay [États-Unis] ; Cyrus P. Zabetian [États-Unis] ; Stewart A. Factor [États-Unis] ; John G. Nutt [États-Unis] ; Ali Samii [États-Unis] ; Alida Griffith [États-Unis] ; Tom D. Bird [États-Unis] ; Patricia Kramer [États-Unis] ; Donald S. Higgins [États-Unis] ; Haydeh Payami [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-04.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : États-Unis.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, DNA Mutational Analysis (methods), Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Glycine (genetics), Humans, LRRK2 G2019S mutation, Male, Middle Aged, Movement Disorders (epidemiology), Movement Disorders (genetics), Mutation, Nervous system diseases, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Phenotype, Protein-Serine-Threonine Kinases (genetics), Serine (genetics), United States (epidemiology), age at onset, family history, genotype–phenotype correlation, geography.
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : United States.
- epidemiology : Movement Disorders, Parkinson Disease.
- genetics : Movement Disorders, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation.
Abstract
The G2019S mutation in the LRRK2 gene is reportedly a common cause of familial Parkinson's disease (PD) and may also have a significant role in nonfamilial PD. The objective of this study was to assess mutation carrier frequency in PD patients from movement disorder clinics in the United States, stratified by family history, age at onset, and geography; to determine carrier frequency in a large and well‐characterized control population; to examine segregation of mutation in families of patients; and to correlate genotype with clinical phenotype. One thousand four hundred twenty‐five unrelated PD patients from movement disorder clinics in Oregon, Washington, and New York and 1,647 unrelated controls were studied. The G2019S mutation was detected using a TaqMan assay and verified by sequencing. Eighteen of 1,425 patients and one of 1,647 controls had the mutation. Carrier frequency (± 2SE) in patients was 0.013 ± 0.006 overall, 0.030 ± 0.019 in familial PD, 0.007 ± 0.005 in nonfamilial PD, 0.016 ± 0.013 in early‐onset PD, and 0.012 ± 0.007 in late‐onset PD. Geographic differences were insignificant. Age at onset of mutation carriers ranged from 28 to 71 years. Mutation carriers were clinically indistinguishable from idiopathic PD. LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20751
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001E83
- to stream Istex, to step Curation: 001E83
- to stream Istex, to step Checkpoint: 001D53
- to stream PubMed, to step Corpus: 002E13
- to stream PubMed, to step Curation: 002E13
- to stream PubMed, to step Checkpoint: 002B87
- to stream Ncbi, to step Merge: 001516
- to stream Ncbi, to step Curation: 001516
- to stream Ncbi, to step Checkpoint: 001516
- to stream Main, to step Merge: 004607
- to stream PascalFrancis, to step Corpus: 001B74
- to stream PascalFrancis, to step Curation: 001147
- to stream PascalFrancis, to step Checkpoint: 001981
- to stream Main, to step Merge: 004A76
- to stream Main, to step Curation: 003294
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics</title><author><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></author><author><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name></author><author><name sortKey="Bird, Tom D" sort="Bird, Tom D" uniqKey="Bird T" first="Tom D." last="Bird">Tom D. Bird</name></author><author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name></author><author><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name></author><author><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A4BB2C8C5D87A3B8DDF3CD3E2AA3B7CA39614FA0</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.20751</idno><idno type="url">https://api.istex.fr/document/A4BB2C8C5D87A3B8DDF3CD3E2AA3B7CA39614FA0/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001E83</idno><idno type="wicri:Area/Istex/Curation">001E83</idno><idno type="wicri:Area/Istex/Checkpoint">001D53</idno><idno type="wicri:doubleKey">0885-3185:2006:Kay D:parkinson:s:disease</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:16250030</idno><idno type="wicri:Area/PubMed/Corpus">002E13</idno><idno type="wicri:Area/PubMed/Curation">002E13</idno><idno type="wicri:Area/PubMed/Checkpoint">002B87</idno><idno type="wicri:Area/Ncbi/Merge">001516</idno><idno type="wicri:Area/Ncbi/Curation">001516</idno><idno type="wicri:Area/Ncbi/Checkpoint">001516</idno><idno type="wicri:doubleKey">0885-3185:2006:Kay D:parkinson:s:disease</idno><idno type="wicri:Area/Main/Merge">004607</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:06-0244415</idno><idno type="wicri:Area/PascalFrancis/Corpus">001B74</idno><idno type="wicri:Area/PascalFrancis/Curation">001147</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001981</idno><idno type="wicri:doubleKey">0885-3185:2006:Kay D:parkinson:s:disease</idno><idno type="wicri:Area/Main/Merge">004A76</idno><idno type="wicri:Area/Main/Curation">003294</idno><idno type="wicri:Area/Main/Exploration">003294</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics</title><author><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics Institute, Wadsworth Center, New York State Department of Health, Albany, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Washington School of Medicine, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorder Clinic, Albany Medical Center, Albany, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University School of Medicine, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Washington School of Medicine, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Booth Gardner Parkinson's Care Center, Evergreen Hospital Medical Center, Kirkland, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Bird, Tom D" sort="Bird, Tom D" uniqKey="Bird T" first="Tom D." last="Bird">Tom D. Bird</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Washington School of Medicine, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorder Clinic, Albany Medical Center, Albany, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics Institute, Wadsworth Center, New York State Department of Health, Albany, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-04">2006-04</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="519">519</biblScope><biblScope unit="page" to="523">523</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A4BB2C8C5D87A3B8DDF3CD3E2AA3B7CA39614FA0</idno><idno type="DOI">10.1002/mds.20751</idno><idno type="ArticleID">MDS20751</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>LRRK2 G2019S mutation</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (epidemiology)</term><term>Movement Disorders (genetics)</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term><term>United States (epidemiology)</term><term>age at onset</term><term>family history</term><term>genotype–phenotype correlation</term><term>geography</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>United States</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Movement Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Génotype</term><term>Mutation</term><term>Parkinson maladie</term><term>Phénotype</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>États-Unis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The G2019S mutation in the LRRK2 gene is reportedly a common cause of familial Parkinson's disease (PD) and may also have a significant role in nonfamilial PD. The objective of this study was to assess mutation carrier frequency in PD patients from movement disorder clinics in the United States, stratified by family history, age at onset, and geography; to determine carrier frequency in a large and well‐characterized control population; to examine segregation of mutation in families of patients; and to correlate genotype with clinical phenotype. One thousand four hundred twenty‐five unrelated PD patients from movement disorder clinics in Oregon, Washington, and New York and 1,647 unrelated controls were studied. The G2019S mutation was detected using a TaqMan assay and verified by sequencing. Eighteen of 1,425 patients and one of 1,647 controls had the mutation. Carrier frequency (± 2SE) in patients was 0.013 ± 0.006 overall, 0.030 ± 0.019 in familial PD, 0.007 ± 0.005 in nonfamilial PD, 0.016 ± 0.013 in early‐onset PD, and 0.012 ± 0.007 in late‐onset PD. Geographic differences were insignificant. Age at onset of mutation carriers ranged from 28 to 71 years. Mutation carriers were clinically indistinguishable from idiopathic PD. LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Géorgie (États-Unis)</li><li>Oregon</li><li>Washington (État)</li><li>État de New York</li></region></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Kay, Denise M" sort="Kay, Denise M" uniqKey="Kay D" first="Denise M." last="Kay">Denise M. Kay</name></region><name sortKey="Bird, Tom D" sort="Bird, Tom D" uniqKey="Bird T" first="Tom D." last="Bird">Tom D. Bird</name><name sortKey="Bird, Tom D" sort="Bird, Tom D" uniqKey="Bird T" first="Tom D." last="Bird">Tom D. Bird</name><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><name sortKey="Factor, Stewart A" sort="Factor, Stewart A" uniqKey="Factor S" first="Stewart A." last="Factor">Stewart A. Factor</name><name sortKey="Griffith, Alida" sort="Griffith, Alida" uniqKey="Griffith A" first="Alida" last="Griffith">Alida Griffith</name><name sortKey="Higgins, Donald S" sort="Higgins, Donald S" uniqKey="Higgins D" first="Donald S." last="Higgins">Donald S. Higgins</name><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><name sortKey="Payami, Haydeh" sort="Payami, Haydeh" uniqKey="Payami H" first="Haydeh" last="Payami">Haydeh Payami</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003294 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003294 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:A4BB2C8C5D87A3B8DDF3CD3E2AA3B7CA39614FA0
|texte= Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
}}
| This area was generated with Dilib version V0.6.23. |  |