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Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Authors

  • Lorraine N. Clark PhD,

    Corresponding author
    1. Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA
    2. Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    • Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032

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  • Angelique Nicolai BA,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Shehla Afridi BSc, MSc,

    1. Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA
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  • Juliette Harris MSc, PhD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Helen Mejia-Santana MSc,

    1. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Lisa Strug PhD,

    1. Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA
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  • Lucien J. Cote MD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    2. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Elan D. Louis MD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    2. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Howard Andrews PhD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    2. Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Cheryl Waters MD, FRCP,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Blair Ford MD, FRCP,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Steven Frucht MD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Stanley Fahn MD,

    1. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Richard Mayeux MD, MSc,

    1. Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA
    2. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    3. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    4. Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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  • Ruth Ottman PhD,

    1. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    2. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA
    3. Epidemiology of Brain Disorders Department, New York State Psychiatric Institute, New York, New York, USA
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  • K. Marder MD, MPH

    1. Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA
    2. Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    3. Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    4. Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York, USA
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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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