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

doi:10.1016/j.parkreldis.2010.09.009

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 journal › Article › peer-review

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 language	English
Pages (from-to)	55-57
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	17
Issue number	1
DOIs	https://doi.org/10.1016/j.parkreldis.2010.09.009
State	Published - Jan 2011
Externally published	Yes

ASJC Scopus Subject Areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

Keywords

DLBD
Gaucher disease
GBA
Genetics

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10.1016/j.parkreldis.2010.09.009

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Nishioka, K., Ross, O. A., Vilariño-Güell, C., Cobb, S. A., Kachergus, J. M., Mann, D. M. A., Snowden, J., Richardson, A. M. T., Neary, D., Robinson, C. A., Rajput, A., Papapetropoulos, S., Mash, D. C., Pahwa, R., Lyons, K. E., Wszolek, Z. K., Dickson, D. W., & 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

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

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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.\}",

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doi = "10.1016/j.parkreldis.2010.09.009",

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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

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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

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ER -

Glucocerebrosidase mutations in diffuse Lewy body disease

Abstract

ASJC Scopus Subject Areas

Keywords

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