Glucocerebrosidase mutations in diffuse Lewy body disease

Kenya Nishioka, Owen A. Ross, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, David M A Mann, Julie Snowden, Anna M T Richardson, David Neary, Christopher A. Robinson, Alex Rajput, Spiridon Papapetropoulos, Deborah C Mash, Rajesh Pahwa, Kelly E. Lyons, Zbigniew K. Wszolek, Dennis W. Dickson, Matthew J. Farrer

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.

Original languageEnglish
Pages (from-to)55-57
Number of pages3
JournalParkinsonism and Related Disorders
Volume17
Issue number1
DOIs
StatePublished - Jan 1 2011

Fingerprint

Glucosylceramidase
Lewy Body Disease
Mutation
Parkinson Disease
Genes
Lewy Bodies
Cerebral Cortex
Brain Stem

Keywords

  • DLBD
  • Gaucher disease
  • GBA
  • Genetics

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Nishioka, K., Ross, O. A., Vilariño-Güell, C., Cobb, S. A., Kachergus, J. M., Mann, D. M. A., ... Farrer, M. J. (2011). Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism and Related Disorders, 17(1), 55-57. https://doi.org/10.1016/j.parkreldis.2010.09.009

Glucocerebrosidase mutations in diffuse Lewy body disease. / Nishioka, Kenya; Ross, Owen A.; Vilariño-Güell, Carles; Cobb, Stephanie A.; Kachergus, Jennifer M.; Mann, David M A; Snowden, Julie; Richardson, Anna M T; Neary, David; Robinson, Christopher A.; Rajput, Alex; Papapetropoulos, Spiridon; Mash, Deborah C; Pahwa, Rajesh; Lyons, Kelly E.; Wszolek, Zbigniew K.; Dickson, Dennis W.; Farrer, Matthew J.

In: Parkinsonism and Related Disorders, Vol. 17, No. 1, 01.01.2011, p. 55-57.

Research output: Contribution to journalArticle

Nishioka, K, Ross, OA, Vilariño-Güell, C, Cobb, SA, Kachergus, JM, Mann, DMA, Snowden, J, Richardson, AMT, Neary, D, Robinson, CA, Rajput, A, Papapetropoulos, S, Mash, DC, Pahwa, R, Lyons, KE, Wszolek, ZK, Dickson, DW & Farrer, MJ 2011, 'Glucocerebrosidase mutations in diffuse Lewy body disease', Parkinsonism and Related Disorders, vol. 17, no. 1, pp. 55-57. https://doi.org/10.1016/j.parkreldis.2010.09.009
Nishioka K, Ross OA, Vilariño-Güell C, Cobb SA, Kachergus JM, Mann DMA et al. Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism and Related Disorders. 2011 Jan 1;17(1):55-57. https://doi.org/10.1016/j.parkreldis.2010.09.009
Nishioka, Kenya ; Ross, Owen A. ; Vilariño-Güell, Carles ; Cobb, Stephanie A. ; Kachergus, Jennifer M. ; Mann, David M A ; Snowden, Julie ; Richardson, Anna M T ; Neary, David ; Robinson, Christopher A. ; Rajput, Alex ; Papapetropoulos, Spiridon ; Mash, Deborah C ; Pahwa, Rajesh ; Lyons, Kelly E. ; Wszolek, Zbigniew K. ; Dickson, Dennis W. ; Farrer, Matthew J. / Glucocerebrosidase mutations in diffuse Lewy body disease. In: Parkinsonism and Related Disorders. 2011 ; Vol. 17, No. 1. pp. 55-57.
@article{c3961eb5aeba461d9ef823e7d9699cfd,
title = "Glucocerebrosidase mutations in diffuse Lewy body disease",
abstract = "Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8{\%} (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.",
keywords = "DLBD, Gaucher disease, GBA, Genetics",
author = "Kenya Nishioka and Ross, {Owen A.} and Carles Vilari{\~n}o-G{\"u}ell and Cobb, {Stephanie A.} and Kachergus, {Jennifer M.} and Mann, {David M A} and Julie Snowden and Richardson, {Anna M T} and David Neary and Robinson, {Christopher A.} and Alex Rajput and Spiridon Papapetropoulos and Mash, {Deborah C} and Rajesh Pahwa and Lyons, {Kelly E.} and Wszolek, {Zbigniew K.} and Dickson, {Dennis W.} and Farrer, {Matthew J.}",
year = "2011",
month = "1",
day = "1",
doi = "10.1016/j.parkreldis.2010.09.009",
language = "English",
volume = "17",
pages = "55--57",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "1",

}

TY - JOUR

T1 - Glucocerebrosidase mutations in diffuse Lewy body disease

AU - Nishioka, Kenya

AU - Ross, Owen A.

AU - Vilariño-Güell, Carles

AU - Cobb, Stephanie A.

AU - Kachergus, Jennifer M.

AU - Mann, David M A

AU - Snowden, Julie

AU - Richardson, Anna M T

AU - Neary, David

AU - Robinson, Christopher A.

AU - Rajput, Alex

AU - Papapetropoulos, Spiridon

AU - Mash, Deborah C

AU - Pahwa, Rajesh

AU - Lyons, Kelly E.

AU - Wszolek, Zbigniew K.

AU - Dickson, Dennis W.

AU - Farrer, Matthew J.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.

AB - Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.

KW - DLBD

KW - Gaucher disease

KW - GBA

KW - Genetics

UR - http://www.scopus.com/inward/record.url?scp=78651099224&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78651099224&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2010.09.009

DO - 10.1016/j.parkreldis.2010.09.009

M3 - Article

VL - 17

SP - 55

EP - 57

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

IS - 1

ER -