Glucosidase-beta variations and Lewy body disorders

Matthew J. Farrer, Lindsey N. Williams, Avi A. Algom, Jennifer Kachergus, Mary M. Hulihan, Owen A. Ross, Alex Rajput, Spiridon Papapetropoulos, Deborah C. Mash, Dennis W. Dickson

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

It has been proposed that there is an increased frequency of glucosidase-β mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-β mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3-29, p = 0.3). All three affected carriers were classified as diffuse Lewy body disease (n = 3/50; 6%). Our study suggests glucosidase-β variants have a limited role in susceptibility to Lewy body disease in North America.

Original languageEnglish (US)
Pages (from-to)414-416
Number of pages3
JournalParkinsonism and Related Disorders
Volume15
Issue number6
DOIs
StatePublished - Jul 1 2009

Keywords

  • Gaucher
  • Genetic
  • Lewy body
  • Parkinson

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

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    Farrer, M. J., Williams, L. N., Algom, A. A., Kachergus, J., Hulihan, M. M., Ross, O. A., Rajput, A., Papapetropoulos, S., Mash, D. C., & Dickson, D. W. (2009). Glucosidase-beta variations and Lewy body disorders. Parkinsonism and Related Disorders, 15(6), 414-416. https://doi.org/10.1016/j.parkreldis.2008.08.004