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

29 Citations (Scopus)

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 2009

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Glucosidases
Lewy Bodies
Lewy Body Disease
beta-Glucosidase
Mutation Rate
North America
DNA Sequence Analysis
Odds Ratio
Mutation

Keywords

  • Gaucher
  • Genetic
  • Lewy body
  • Parkinson

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Glucosidase-beta variations and Lewy body disorders. / Farrer, Matthew J.; Williams, Lindsey N.; Algom, Avi A.; Kachergus, Jennifer; Hulihan, Mary M.; Ross, Owen A; Rajput, Alex; Papapetropoulos, Spiridon; Mash, Deborah C.; Dickson, Dennis W.

In: Parkinsonism and Related Disorders, Vol. 15, No. 6, 07.2009, p. 414-416.

Research output: Contribution to journalArticle

Farrer, MJ, Williams, LN, Algom, AA, Kachergus, J, Hulihan, MM, Ross, OA, Rajput, A, Papapetropoulos, S, Mash, DC & Dickson, DW 2009, 'Glucosidase-beta variations and Lewy body disorders', Parkinsonism and Related Disorders, vol. 15, no. 6, pp. 414-416. https://doi.org/10.1016/j.parkreldis.2008.08.004
Farrer, Matthew J. ; Williams, Lindsey N. ; Algom, Avi A. ; Kachergus, Jennifer ; Hulihan, Mary M. ; Ross, Owen A ; Rajput, Alex ; Papapetropoulos, Spiridon ; Mash, Deborah C. ; Dickson, Dennis W. / Glucosidase-beta variations and Lewy body disorders. In: Parkinsonism and Related Disorders. 2009 ; Vol. 15, No. 6. pp. 414-416.
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