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

doi:10.1016/j.parkreldis.2008.08.004

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

Neurology

Research output: Contribution to journal › Article

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 language	English (US)
Pages (from-to)	414-416
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	15
Issue number	6
DOIs	https://doi.org/10.1016/j.parkreldis.2008.08.004
State	Published - Jul 1 2009

Keywords

Gaucher
Genetic
Lewy body
Parkinson

ASJC Scopus subject areas

Geriatrics and Gerontology
Clinical Neurology
Neurology

Access to Document

10.1016/j.parkreldis.2008.08.004

Fingerprint Dive into the research topics of 'Glucosidase-beta variations and Lewy body disorders'. Together they form a unique fingerprint.

Cite this

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

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, 01.07.2009, p. 414-416.

Research output: Contribution to journal › Article

@article{c55f49b7e3e64e1f9a5b9a10e3c58781,

title = "Glucosidase-beta variations and Lewy body disorders",

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.",

keywords = "Gaucher, Genetic, Lewy body, Parkinson",

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

year = "2009",

month = jul,

day = "1",

doi = "10.1016/j.parkreldis.2008.08.004",

language = "English (US)",

volume = "15",

pages = "414--416",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

number = "6",

}

TY - JOUR

T1 - Glucosidase-beta variations and Lewy body disorders

AU - Farrer, Matthew J.

AU - Williams, Lindsey N.

AU - Algom, Avi A.

AU - Kachergus, Jennifer

AU - Hulihan, Mary M.

AU - Ross, Owen A.

AU - Rajput, Alex

AU - Papapetropoulos, Spiridon

AU - Mash, Deborah C.

AU - Dickson, Dennis W.

PY - 2009/7/1

Y1 - 2009/7/1

N2 - 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.

AB - 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.

KW - Gaucher

KW - Genetic

KW - Lewy body

KW - Parkinson

UR - http://www.scopus.com/inward/record.url?scp=67449090672&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67449090672&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2008.08.004

DO - 10.1016/j.parkreldis.2008.08.004

M3 - Article

C2 - 18829375

AN - SCOPUS:67449090672

VL - 15

SP - 414

EP - 416

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

IS - 6

ER -