Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in chinese population

Movement Disorders

Volumn 25, Issue 8, 2010, Pages 1005-1011

  Sun, Qi Ying ^a   Guo, Ji Feng ^a,b   Wang, Lei ^a   Yu, Ren He ^b   Zuo, Xing ^a   Yao, Ling Yan ^a   Pan, Qian ^c   Xia, Kun ^c   Tang, Bei Sha ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c National Laboratory of Medical Genetics of China   (China)

Author keywords

Gaucher disease; Glucocerebrosidase; Meta analysis; Parkinson's disease

Indexed keywords

GLUCOSYLCERAMIDASE; LEUCINE; PROLINE;

ADULT; AGED; ARTICLE; CHINESE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; JEW; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; RACE DIFFERENCE; RISK FACTOR; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; CHI SQUARE DISTRIBUTION; GENETICS; META ANALYSIS (TOPIC); MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSYLCERAMIDASE; HUMANS; LEUCINE; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PROLINE;

EID: 77953485608     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23009     Document Type: Article

References (29)

1. Guggenbuhl P, Grosbois B, Chale's G. Gaucher disease. Joint Bone Spine 2008;75:116-124.
2. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 2004;83:6-15.
3. Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. Q J Med 1996;89:691-694. (Pubitemid 26319021)
4. Machaczka M, Rucinska M, Skotnicki AB, et al. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999;61:216-217. (Pubitemid 29297895)
5. Choy FY, Zhang W, Shi HP, et al. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis 2007;38:287-293.
6. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977.
7. Gan-Or Z, Giladi N, Rozovski U, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008;70:2277-2283.
8. Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
9. Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord 2005;20:100-103.
10. Clark LN, Ross BM, Wang Y, et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007;69:1270-1277. (Pubitemid 47429028)
11. Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008;65:379-382.
12. Sato C, Morgan A, Lang AE, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord 2005;20:367-370.
13. Toft M, Pielsticker L, Ross OA, et al. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006;66:415-417.
14. Eblan NJ, Nguyen J, Ziegler SG, et al. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov Disord 2006;21:282-283.
15. Bras J, Paisan-Ruiz C, Guerreiro R, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging 2007;19:1-3.
16. Spitz M, Rozenberg R, Pereira Lda V, et al. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord 2008;14:58-62.
17. Wu YR, Chen CM, Lee-Chen GJ. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry 2007;78:977-979.
18. Ziegler SG, Eblan MJ, Gutti U, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007;91:195-200.
19. Tan EK, Tong J, Zhao Y, et al. Glucocerebrosidase mutations and risk of parkinson disease in Chinese patients. Arch Neurol 2007;64:1056-1058.
20. De Marco EV, Annesi G, Quattrone A, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord 2008;23:460-463.
21. Kalinderi K, Bostantjopoulou S, Fidani L, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett 2009;452:87-89.
22. Mitsui J, Mizuta I, Tsuji S, et al. Mutations for Gaucher Disease confer high susceptibility to Parkinson Disease. Arch Neurol 2009;66:571-576.
23. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009;132:1783-1794.
24. Hughes AJ, Daniel SE, Kilford L, et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
25. Depaolo J, Goker-Alpan O, Sidransky E, et al. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009;24:1571-1578.
26. Nichols WC, Pankratz N, Foroud T, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009;72:310-316.
27. Goker-Alpan O, Lopez G, Sidransky E, et al. The Spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008;65:1353-1357.
28. Aharon-Peretz J, Badarny S, Gershoni-Baruch R, et al. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. Neurology 2005;65:1460-1461.
29. Wan L, Hsu CM, Tsai CH, et al. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis 2006;36:422-425.