Table of Contents Author Guidelines Submit a Manuscript
Parkinson’s Disease
Volume 2015, Article ID 916971, 10 pages
http://dx.doi.org/10.1155/2015/916971
Research Article

Effect of GBA Mutations on Phenotype of Parkinson’s Disease: A Study on Chinese Population and a Meta-Analysis

1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
2Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
3Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan 410008, China
4State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, China
5Parkinson’s Disease Center, Beijing Institute for Brain Disorders, Capital University of Medical Sciences, Beijing 100069, China

Received 10 June 2015; Revised 1 August 2015; Accepted 3 August 2015

Academic Editor: Eng-King Tan

Copyright © 2015 Yuan Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Siebert, E. Sidransky, and W. Westbroek, “Glucocerebrosidase is shaking up the synucleinopathies,” Brain, vol. 137, no. 5, pp. 1304–1322, 2014. View at Publisher · View at Google Scholar · View at Scopus
  2. J. Aharon-Peretz, S. Badarny, H. Rosenbaum, and R. Gershoni-Baruch, “Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation,” Neurology, vol. 65, no. 9, pp. 1460–1461, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. S. E. Winder-Rhodes, J. R. Evans, M. Ban et al., “Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort,” Brain, vol. 136, no. 2, pp. 392–399, 2013. View at Publisher · View at Google Scholar · View at Scopus
  4. F.-Y. Hu, J. Xi, J. Guo et al., “Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China,” European Journal of Neurology, vol. 17, no. 12, pp. 1476–1478, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. A. J. Hughes, S. E. Daniel, L. Kilford, and A. J. Lees, “Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases,” Journal of Neurology Neurosurgery and Psychiatry, vol. 55, no. 3, pp. 181–184, 1992. View at Publisher · View at Google Scholar · View at Scopus
  6. C. Wang, Y. Cai, Z. Gu et al., “Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals,” Neurobiology of Aging, vol. 35, no. 3, pp. 725.e1–725.e6, 2014. View at Publisher · View at Google Scholar · View at Scopus
  7. T. Pulkes, L. Choubtum, S. Chitphuk et al., “Glucocerebrosidase mutations in Thai patients with Parkinson's disease,” Parkinsonism & Related Disorders, vol. 20, no. 9, pp. 986–991, 2014. View at Publisher · View at Google Scholar · View at Scopus
  8. M. Malec-Litwinowicz, M. Rudzińska, M. Szubiga, M. Michalski, T. Tomaszewski, and A. Szczudlik, “Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients,” Neurologia i Neurochirurgia Polska, vol. 48, no. 4, pp. 258–261, 2014. View at Publisher · View at Google Scholar · View at Scopus
  9. Y. Li, T. Sekine, M. Funayama et al., “Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease,” Neurobiology of Aging, vol. 35, no. 4, pp. 935.e3–935.e8, 2014. View at Publisher · View at Google Scholar · View at Scopus
  10. R. Asselta, V. Rimoldi, C. Siri et al., “Glucocerebrosidase mutations in primary parkinsonism,” Parkinsonism and Related Disorders, vol. 20, no. 11, pp. 1215–1220, 2014. View at Publisher · View at Google Scholar · View at Scopus
  11. K. R. Kumar, A. Ramirez, A. Göbel et al., “Glucocerebrosidase mutations in a Serbian Parkinson's disease population,” European Journal of Neurology, vol. 20, no. 2, pp. 402–405, 2013. View at Publisher · View at Google Scholar · View at Scopus
  12. N. Kresojević, M. Mijajlović, S. Perić et al., “Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations,” Parkinsonism and Related Disorders, vol. 19, no. 4, pp. 431–435, 2013. View at Publisher · View at Google Scholar · View at Scopus
  13. Y. Wang, L. Liu, J. Xiong et al., “Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China,” Behavioral and Brain Functions, vol. 8, article 57, 2012. View at Publisher · View at Google Scholar · View at Scopus
  14. N. Setó-Salvia, J. Pagonabarraga, H. Houlden et al., “Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course,” Movement Disorders, vol. 27, no. 3, pp. 393–399, 2012. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Emelyanov, T. Boukina, A. Yakimovskii et al., “Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia,” Movement Disorders, vol. 27, no. 1, pp. 158–159, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. B. de Carvalho Guimarães, A. C. Valente Pereira, F. da Costa Rodrigues et al., “Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients,” Parkinsonism and Related Disorders, vol. 18, no. 5, pp. 688–689, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. R. N. Alcalay, E. Caccappolo, H. Mejia-Santana et al., “Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study,” Neurology, vol. 78, no. 18, pp. 1434–1440, 2012. View at Publisher · View at Google Scholar · View at Scopus
  18. S. Lesage, M. Anheim, C. Condroyer et al., “Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease,” Human Molecular Genetics, vol. 20, no. 1, pp. 202–210, 2011. View at Publisher · View at Google Scholar · View at Scopus
  19. C.-L. Huang, Y.-H. Wu-Chou, S.-C. Lai et al., “Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan,” European Journal of Neurology, vol. 18, no. 10, pp. 1227–1232, 2011. View at Publisher · View at Google Scholar · View at Scopus
  20. X.-Y. Mao, J.-M. Burgunder, Z.-J. Zhang et al., “Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China,” Neuroscience Letters, vol. 469, no. 2, pp. 256–259, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. Z. Gan-Or, A. Bar-Shira, A. Mirelman et al., “LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease,” Neurogenetics, vol. 11, no. 1, pp. 121–125, 2010. View at Publisher · View at Google Scholar · View at Scopus
  22. M. P. Socal, H. Bock, K. Michelin-Tirelli et al., “Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians,” Parkinsonism & Related Disorders, vol. 15, no. 1, pp. 76–78, 2009. View at Publisher · View at Google Scholar · View at Scopus
  23. E. V. De Marco, G. Annesi, P. Tarantino et al., “Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy,” Movement Disorders, vol. 23, no. 3, pp. 460–463, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. J. Chen, W. Li, T. Zhang et al., “Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population,” PLoS ONE, vol. 9, no. 12, Article ID e115747, 2014. View at Publisher · View at Google Scholar · View at Scopus
  25. J. F. Guo, K. Li, R. L. Yu et al., “Polygenic determinants of Parkinson's disease in a Chinese population,” Neurobiology of Aging, vol. 36, no. 4, pp. 1765.e1–1765.e6, 2015. View at Google Scholar
  26. A. Stang, “Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses,” European Journal of Epidemiology, vol. 25, no. 9, pp. 603–605, 2010. View at Publisher · View at Google Scholar · View at Scopus
  27. E. Sidransky, M. A. Nalls, J. O. Aasly et al., “Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease,” The New England Journal of Medicine, vol. 361, no. 17, pp. 1651–1661, 2009. View at Publisher · View at Google Scholar
  28. Z. Gan-Or, N. Giladi, and A. Orr-Urtreger, “Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations,” Brain, vol. 132, no. 10, article e125, 2009. View at Publisher · View at Google Scholar · View at Scopus
  29. O. Goker-Alpan, J. C. Masdeu, P. D. Kohn et al., “The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow,” Brain, vol. 135, no. 8, pp. 2440–2448, 2012. View at Publisher · View at Google Scholar · View at Scopus
  30. J. Neumann, J. Bras, E. Deas et al., “Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease,” Brain, vol. 132, no. 7, pp. 1783–1794, 2009. View at Publisher · View at Google Scholar · View at Scopus