Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Human Molecular Genetics

Volumn 20, Issue 1, 2011, Pages 202-210

  Lesage, Suzanne ^a,b,c   Anheim, Mathieu ^a,b,c,d,e   Condroyer, Christel ^a,b,c   Pollak, Pierre ^f   Durif, Franck ^g   Dupuits, Céline ^a,b,c   Viallet, François ^h   Lohmann, Ebba ^a,b,c   Corvol, Jean Christophe ^a,b,c,e   Honoré, Aurélie ^a,b,c   Rivaud, Sophie ^a,b,c   Vidailhet, Marie ^a,b,c   Dürr, Alexandra ^a,b,c,d,e   Brice, Alexis ^a,b,c,d,e  

^a SORBONNE UNIVERSITÉ   (France)

^b INSERM   (France)

^c CNRS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e Centre de Reference des Maladies Neurogenetiques de l'Enfant et de l'Adulte   (France)

^f GRENOBLE UNIVERSITY HOSPITAL   (France)

^g Service de Neurologie CH   (France)

^h Service de Neurologie   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; LEVODOPA;

ADULT; ALLELE; ARTICLE; BRADYKINESIA; CONTROLLED STUDY; DYSKINESIA; EUROPE; EXON; FAMILY HISTORY; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PARKINSON DISEASE; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM; AGED; CAUCASIAN; GENETIC PREDISPOSITION; GENETICS; HYPOKINESIA; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; RISK FACTOR;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GAUCHER DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENOMIC STRUCTURAL VARIATION; GLUCOSYLCERAMIDASE; HUMANS; HYPOKINESIA; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; RISK FACTORS;

EID: 79956324138     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq454     Document Type: Article

References (33)

1. Lesage, S. and Brice, A. (2009) Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum. Mol. Genet., 18, R48-R59.
2. Beutler, E., Gelbart, T. and Scott, C.R. (2005) Hematologically important mutations: Gaucher disease. Blood Cells Mol. Dis., 35, 355-364.
3. Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M.E. and Sidransky, E. (2004) Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab., 81, 70-73.
4. Eblan, M.J., Walker, J.M. and Sidransky, E. (2005) The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med., 352, 728-731; author reply 728-731.
5. Sato, C., Morgan, A., Lang, A.E., Salehi-Rad, S., Kawarai, T., Meng, Y., Ray, P.N., Farrer, L.A., St George-Hyslop, P. and Rogaeva, E. (2005) Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov. Disord., 20, 367-370.
6. Clark, L.N., Ross, B.M., Wang, Y., Mejia-Santana, H., Harris, J., Louis, E.D., Cote, L.J., Andrews, H., Fahn, S., Waters, C. et al. (2007) Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology, 69, 1270-1277.
7. Wu, Y.R., Chen, C.M., Chao, C.Y., Ro, L.S., Lyu, R.K., Chang, K.H. and Lee-Chen, G.J. (2007) Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J. Neurol. Neurosurg. Psychiatr., 78, 977-979.
8. Gan-Or, Z., Giladi, N., Rozovski, U., Shifrin, C., Rosner, S., Gurevich, T., Bar-Shira, A. and Orr-Urtreger, A. (2008) Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology, 70, 2277-2283.
9. Nichols, W.C., Pankratz, N., Marek, D.K., Pauciulo, M.W., Elsaesser, V.E., Halter, C.A., Rudolph, A., Wojcieszek, J., Pfeiffer, R.F. and Foroud, T. (2009) Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology, 72, 310-316.
10. Lesage, S., Hecham, N., Anheim, M., Belarbi, S., Lohman, E., Viallet, F., Pollak, P., Abada, M., Dürr, A., Tazir, M. et al. Mutations in the glucocerebrosidase gene confer a risk for Parkinson's disease in North Africa. Neurology, in press.
11. Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A. et al. (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med., 361, 1651-1661.
12. Hruska, K.S., LaMarca, M.E., Scott, C.R. and Sidransky, E. (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat., 29, 567-583.
13. Sarria, A.J., Giraldo, P., Perez-Calvo, J.I. and Pocovi, M. (1999) Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]) in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. Hum. Mutat., 14, 88.
14. Grace, M.E., Ashton-Prolla, P., Pastores, G.M., Soni, A. and Desnick, R.J. (1999) Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease. J. Clin. Invest., 103, 817-823.
15. Bras, J., Paisan-Ruiz, C., Guerreiro, R., Ribeiro, M.H., Morgadinho, A., Januario, C., Sidransky, E., Oliveira, C. and Singleton, A. (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol. Aging, 30, 1515-1517.
16. Gan-Or, Z., Giladi, N. and Orr-Urtreger, A. (2009) Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations. Brain, 132, e125.
17. Torralba, M.A., Perez-Calvo, J.I., Pastores, G.M., Cenarro, A., Giraldo, P. and Pocovi, M. (2001) Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Blood Cells Mol. Dis., 27, 489-495.
18. Rozenberg, R., Fox, D.C., Sobreira, E. and Pereira, L.V. (2006) Detection of 12 new mutations in Gaucher disease Brazilian patients. Blood Cells Mol. Dis., 37, 204-209.
19. Mitsui, J., Mizuta, I., Toyoda, A., Ashida, R., Takahashi, Y., Goto, J., Fukuda, Y., Date, H., Iwata, A., Yamamoto, M. et al. (2009) Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol., 66, 571-576.
20. Aharon-Peretz, J., Rosenbaum, H. and Gershoni-Baruch, R. (2004) Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med., 351, 1972-1977.
21. Tan, E.K., Tong, J., Fook-Chong, S., Yih, Y., Wong, M.C., Pavanni, R. and Zhao, Y. (2007) Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch. Neurol., 64, 1056-1058.
22. Ziegler, S.G., Eblan, M.J., Gutti, U., Hruska, K.S., Stubblefield, B.K., Goker-Alpan, O., LaMarca, M.E. and Sidransky, E. (2007) Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab., 91, 195-200.
23. De Marco, E.V., Annesi, G., Tarantino, P., Rocca, F.E., Provenzano, G., Civitelli, D., Ciro Candiano, I.C., Annesi, F., Carrideo, S., Condino, F. et al. (2008) Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov. Disord., 23, 460-463.
24. Kalinderi, K., Bostantjopoulou, S., Paisan-Ruiz, C., Katsarou, Z., Hardy, J. and Fidani, L. (2009) Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci. Lett., 452, 87-89.
25. Neumann, J., Bras, J., Deas, E., O'Sullivan, S.S., Parkkinen, L., Lachmann, R.H., Li, A., Holton, J., Guerreiro, R., Paudel, R. et al. (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain, 132, 1783-1794.
26. Pankratz, N., Wilk, J.B., Latourelle, J.C., DeStefano, A.L., Halter, C., Pugh, E.W., Doheny, K.F., Gusella, J.F., Nichols, W.C., Foroud, T. et al. (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum. Genet., 124, 593-605.
27. Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A. et al. (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat. Genet., 41, 1303-1307.
28. Simon-Sanchez, J., Schulte, C., Bras, J.M., Sharma, M., Gibbs, J.R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S.W., Hernandez, D.G. et al. (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet., 41, 1308-1312.
29. Hu, F.Y., Xi, J., Guo, J., Yu, L.H., Liu, L., He, X.H., Liu, Z.L., Zou, X.Y. and Xu, Y.M. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of Mainland China. Eur. J. Neurol. 2010, May 26. [E-pub ahead of print].
30. Toft, M., Pielsticker, L., Ross, O.A., Aasly, J.O. and Farrer, M.J. (2006) Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology, 66, 415-417.
31. Sanchez-Olle, G., Duque, J., Egido-Gabas, M., Casas, J., Lluch, M., Chabas, A., Grinberg, D. and Vilageliu, L. (2009) Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cells Mol. Dis., 42, 159-166.
32. Lesage, S., Ibanez, P., Lohmann, E., Pollak, P., Tison, F., Tazir, M., Leutenegger, A.L., Guimaraes, J., Bonnet, A.M., Agid, Y. et al. (2005) G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann. Neurol., 58, 784-787.
33. Nichols, W.C., Pankratz, N., Hernandez, D., Paisan-Ruiz, C., Jain, S., Halter, C.A., Michaels, V.E., Reed, T., Rudolph, A., Shults, C.W. et al. (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet, 365, 410-412.