Differential effects of severe vs mild GBA mutations on Parkinson disease.
Identifieur interne : 000543 ( PubMed/Corpus ); précédent : 000542; suivant : 000544Differential effects of severe vs mild GBA mutations on Parkinson disease.
Auteurs : Ziv Gan-Or ; Idan Amshalom ; Laura L. Kilarski ; Anat Bar-Shira ; Mali Gana-Weisz ; Anat Mirelman ; Karen Marder ; Susan Bressman ; Nir Giladi ; Avi Orr-UrtregerSource :
- Neurology [ 1526-632X ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glucosylceramidase.
- diagnosis : Parkinson Disease.
- genetics : Jews, Mutation, Parkinson Disease.
- Aged, Cohort Studies, Female, Humans, Male, Middle Aged, Severity of Illness Index.
Abstract
To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD).
DOI: 10.1212/WNL.0000000000001315
PubMed: 25653295
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pubmed:25653295Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Differential effects of severe vs mild GBA mutations on Parkinson disease.</title><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Amshalom, Idan" sort="Amshalom, Idan" uniqKey="Amshalom I" first="Idan" last="Amshalom">Idan Amshalom</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Kilarski, Laura L" sort="Kilarski, Laura L" uniqKey="Kilarski L" first="Laura L" last="Kilarski">Laura L. Kilarski</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gana Weisz, Mali" sort="Gana Weisz, Mali" uniqKey="Gana Weisz M" first="Mali" last="Gana-Weisz">Mali Gana-Weisz</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25653295</idno><idno type="pmid">25653295</idno><idno type="doi">10.1212/WNL.0000000000001315</idno><idno type="wicri:Area/PubMed/Corpus">000543</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000543</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Differential effects of severe vs mild GBA mutations on Parkinson disease.</title><author><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Amshalom, Idan" sort="Amshalom, Idan" uniqKey="Amshalom I" first="Idan" last="Amshalom">Idan Amshalom</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Kilarski, Laura L" sort="Kilarski, Laura L" uniqKey="Kilarski L" first="Laura L" last="Kilarski">Laura L. Kilarski</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bar Shira, Anat" sort="Bar Shira, Anat" uniqKey="Bar Shira A" first="Anat" last="Bar-Shira">Anat Bar-Shira</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Gana Weisz, Mali" sort="Gana Weisz, Mali" uniqKey="Gana Weisz M" first="Mali" last="Gana-Weisz">Mali Gana-Weisz</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Mirelman, Anat" sort="Mirelman, Anat" uniqKey="Mirelman A" first="Anat" last="Mirelman">Anat Mirelman</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation><nlm:affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Neurology</title><idno type="eISSN">1526-632X</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Jews (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Jews</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD).</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25653295</PMID><DateCreated><Year>2015</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2015</Year><Month>06</Month><Day>15</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1526-632X</ISSN><JournalIssue CitedMedium="Internet"><Volume>84</Volume><Issue>9</Issue><PubDate><Year>2015</Year><Month>Mar</Month><Day>03</Day></PubDate></JournalIssue><Title>Neurology</Title><ISOAbbreviation>Neurology</ISOAbbreviation></Journal><ArticleTitle>Differential effects of severe vs mild GBA mutations on Parkinson disease.</ArticleTitle><Pagination><MedlinePgn>880-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1212/WNL.0000000000001315</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD).</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We analyzed 1,000 patients of Ashkenazi-Jewish descent with PD for 7 founder GBA mutations, and conducted a meta-analysis of risk and AAO according to GBA genotype (severe or mild mutation). The meta-analysis included 11,453 patients with PD and 14,565 controls from worldwide populations. The statistical analysis was done with and without continuity correction (constant or empirical), considering biases that could potentially affect the results.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Among Ashkenazi-Jewish patients with PD, the odds ratios for PD were 2.2 and 10.3 for mild and severe GBA mutation carriers, respectively. The observed frequency of severe GBA mutation carriers among patients with PD was more than 4-fold than expected (4.4% vs 0.9%, respectively, p < 0.0001, Fisher exact test). In the different models of the meta-analysis, the odds ratios for PD ranged between 2.84 and 4.94 for mild GBA mutation carriers and 9.92 and 21.29 for severe GBA mutation carriers (p < 1 × 10(-6) for all analyses). Pooled analysis demonstrated AAO of 53.1 (±11.2) and 58.1 (±10.6) years for severe and mild GBA mutation carriers, respectively (p = 4.3 × 10(-5)).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">These data demonstrate that mild and severe heterozygous GBA mutations differentially affect the risk and the AAO of PD. Our results have important implications for genetic counseling and clinical follow-up.</AbstractText><CopyrightInformation>© 2015 American Academy of Neurology.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gan-Or</LastName><ForeName>Ziv</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Amshalom</LastName><ForeName>Idan</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kilarski</LastName><ForeName>Laura L</ForeName><Initials>LL</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bar-Shira</LastName><ForeName>Anat</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gana-Weisz</LastName><ForeName>Mali</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mirelman</LastName><ForeName>Anat</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marder</LastName><ForeName>Karen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bressman</LastName><ForeName>Susan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Giladi</LastName><ForeName>Nir</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Orr-Urtreger</LastName><ForeName>Avi</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>From The Genetic Institute (Z.G.-O., I.A., A.B.-S., M.G.-W., A.O.-R.) and Movement Disorders Unit, Parkinson Center, and Department of Neurology (A.M., N.G.), Tel Aviv Sourasky Medical Center; The Sackler Faculty of Medicine (N.G., A.O.-U.), Tel Aviv University, Israel; Stroke and Dementia Research Centre (L.L.K.), St. George's, University of London, UK; Columbia University (K.M.), Columbia Presbyterian Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY. Z.G.-O. is currently affiliated with the Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Canada. aviorr@tasmc.health.gov.il ziv.gan-or@mail.mcgill.ca.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D017418">Meta-Analysis</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>02</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurology</MedlineTA><NlmUniqueID>0401060</NlmUniqueID><ISSNLinking>0028-3878</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance 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MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007585" MajorTopicYN="N">Jews</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012720" MajorTopicYN="N">Severity of Illness Index</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4351661</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>2</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>2</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>6</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25653295</ArticleId><ArticleId IdType="pii">WNL.0000000000001315</ArticleId><ArticleId IdType="doi">10.1212/WNL.0000000000001315</ArticleId><ArticleId IdType="pmc">PMC4351661</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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