Pilot association study of the β‐glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
Identifieur interne : 002E96 ( Istex/Curation ); précédent : 002E95; suivant : 002E97Pilot association study of the β‐glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
Auteurs : Lorraine N. Clark [États-Unis] ; Angelique Nicolai [États-Unis] ; Shehla Afridi [États-Unis] ; Juliette Harris [États-Unis] ; Helen Mejia-Santana [États-Unis] ; Lisa Strug [États-Unis] ; Lucien J. Cote [États-Unis] ; Elan D. Louis [États-Unis] ; Howard Andrews [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; Stanley Fahn [États-Unis] ; Richard Mayeux [États-Unis] ; Ruth Ottman [États-Unis] ; K. Marder [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-01.
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Abstract
Mutations in the β‐glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β‐glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20320
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Clark</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Nicolai, Angelique" sort="Nicolai, Angelique" uniqKey="Nicolai A" first="Angelique" last="Nicolai">Angelique Nicolai</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Strug, Lisa" sort="Strug, Lisa" uniqKey="Strug L" first="Lisa" last="Strug">Lisa Strug</name><affiliation wicri:level="1"><mods:affiliation>Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. 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Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Marder, K" sort="Marder, K" uniqKey="Marder K" first="K." last="Marder">K. Marder</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:587E5C261633AB239C332AB59820F787CA56C192</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20320</idno><idno type="url">https://api.istex.fr/document/587E5C261633AB239C332AB59820F787CA56C192/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002E96</idno><idno type="wicri:Area/Istex/Curation">002E96</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Pilot association study of the β‐glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Nicolai, Angelique" sort="Nicolai, Angelique" uniqKey="Nicolai A" first="Angelique" last="Nicolai">Angelique Nicolai</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Afridi, Shehla" sort="Afridi, Shehla" uniqKey="Afridi S" first="Shehla" last="Afridi">Shehla Afridi</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Strug, Lisa" sort="Strug, Lisa" uniqKey="Strug L" first="Lisa" last="Strug">Lisa Strug</name><affiliation wicri:level="1"><mods:affiliation>Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Marder, K" sort="Marder, K" uniqKey="Marder K" first="K." last="Marder">K. Marder</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></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="2005-01">2005-01</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="100">100</biblScope><biblScope unit="page" to="103">103</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">587E5C261633AB239C332AB59820F787CA56C192</idno><idno type="DOI">10.1002/mds.20320</idno><idno type="ArticleID">MDS20320</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Jewish ethnicity</term><term>N370S</term><term>beta‐glucocerebrosidase</term><term>genetic risk factor</term><term>heterozygote</term><term>homozygote</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the β‐glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β‐glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study. © 2004 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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