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

Lorraine N. Clark, Angelique Nicolai, Shehla Afridi, Juliette Harris, Helen Mejia-Santana, Lisa Strug, Lucien J. Cote, Elan D. Louis, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Richard Mayeux, Ruth Ottman, K. Marder

Research output: Contribution to journalArticlepeer-review

75 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)100-103
Number of pages4
JournalMovement Disorders
Volume20
Issue number1
DOIs
StatePublished - Jan 2005
Externally publishedYes

Keywords

  • Beta-glucocerebrosidase
  • Genetic risk factor
  • Heterozygote
  • Homozygote
  • Jewish ethnicity
  • N370S

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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