Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Lorraine N. Clark; Angelique Nicolai; Shehla Afridi; Juliette Harris; Helen Mejia-Santana; Lisa Strug; Lucien J. Cote; Elan D. Louis; Howard Andrews; Cheryl Waters; Blair Ford; Steven Frucht; Stanley Fahn; Richard Mayeux; Ruth Ottman; K. Marder

doi:10.1002/mds.20320

Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Lorraine N. Clark, Angelique Nicolai, Shehla Afridi, Juliette Harris, Helen Mejia-Santana, Lisa Strug, Lucien J. Cote, Elan D. Louis, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Richard Mayeux, Ruth Ottman, K. Marder

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

Abstract

Mutations in the β-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β-glucocerebrosidase gene N370S allele (nt.1226 A>G in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ² = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.

Original language	English
Pages (from-to)	100-103
Number of pages	4
Journal	Movement Disorders
Volume	20
Issue number	1
DOIs	https://doi.org/10.1002/mds.20320
State	Published - Jan 2005
Externally published	Yes

Keywords

Beta-glucocerebrosidase
Genetic risk factor
Heterozygote
Homozygote
Jewish ethnicity
N370S

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Clark, L. N., Nicolai, A., Afridi, S., Harris, J., Mejia-Santana, H., Strug, L., Cote, L. J., Louis, E. D., Andrews, H., Waters, C., Ford, B., Frucht, S., Fahn, S., Mayeux, R., Ottman, R., & Marder, K. (2005). Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Movement Disorders, 20(1), 100-103. https://doi.org/10.1002/mds.20320

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title = "Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity",

abstract = "Mutations in the β-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β-glucocerebrosidase gene N370S allele (nt.1226 A>G in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.",

keywords = "Beta-glucocerebrosidase, Genetic risk factor, Heterozygote, Homozygote, Jewish ethnicity, N370S",

author = "Clark, {Lorraine N.} and Angelique Nicolai and Shehla Afridi and Juliette Harris and Helen Mejia-Santana and Lisa Strug and Cote, {Lucien J.} and Louis, {Elan D.} and Howard Andrews and Cheryl Waters and Blair Ford and Steven Frucht and Stanley Fahn and Richard Mayeux and Ruth Ottman and K. Marder",

year = "2005",

month = jan,

doi = "10.1002/mds.20320",

language = "English",

volume = "20",

pages = "100--103",

journal = "Movement Disorders",

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publisher = "John Wiley & Sons Inc.",

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Clark, LN, Nicolai, A, Afridi, S, Harris, J, Mejia-Santana, H, Strug, L, Cote, LJ, Louis, ED, Andrews, H, Waters, C, Ford, B, Frucht, S, Fahn, S, Mayeux, R, Ottman, R & Marder, K 2005, 'Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity', Movement Disorders, vol. 20, no. 1, pp. 100-103. https://doi.org/10.1002/mds.20320

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T1 - Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

AU - Clark, Lorraine N.

AU - Nicolai, Angelique

AU - Afridi, Shehla

AU - Harris, Juliette

AU - Mejia-Santana, Helen

AU - Strug, Lisa

AU - Cote, Lucien J.

AU - Louis, Elan D.

AU - Andrews, Howard

AU - Waters, Cheryl

AU - Ford, Blair

AU - Frucht, Steven

AU - Fahn, Stanley

AU - Mayeux, Richard

AU - Ottman, Ruth

AU - Marder, K.

PY - 2005/1

Y1 - 2005/1

N2 - Mutations in the β-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β-glucocerebrosidase gene N370S allele (nt.1226 A>G in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.

AB - Mutations in the β-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the β-glucocerebrosidase gene N370S allele (nt.1226 A>G in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (χ2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.

KW - Beta-glucocerebrosidase

KW - Genetic risk factor

KW - Heterozygote

KW - Homozygote

KW - Jewish ethnicity

KW - N370S

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JO - Movement Disorders

JF - Movement Disorders

IS - 1

ER -

Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

Abstract

Keywords

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