A personalized approach to Parkinson's disease patients based on founder mutation analysis

Frontiers in Neurology

Volumn 7, Issue MAY, 2016, Pages

  Giladi, Nir ^a   Mirelman, Anat ^a   Thaler, Avner ^a   Orr Urtreger, Avi ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

GBA; LRRK2; Parkinson's disease; Personalized medicine; Phenotype

Indexed keywords

ARTICLE; AUTONOMIC DYSFUNCTION; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; FOUNDER MUTATION ANALYSIS; GBA GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; LRRK2 GENE; MOLECULARLY TARGETED THERAPY; MUTATIONAL ANALYSIS; ONSET AGE; PARKINSON DISEASE; PERSONALIZED MEDICINE; PHENOTYPE; QUALITY OF LIFE; TREATMENT OUTCOME;

EID: 84973551380     PISSN: None     EISSN: 16642295     Source Type: Journal    
DOI: 10.3389/fneur.2016.00071     Document Type: Article

References (58)

1. Lawton M, Baig F, Rolinski M, Ruffman C, Nithi K, May MT, et al. Parkinson's disease subtypes in the Oxford Parkinson Disease Centre (OPDC) discovery cohort. J Parkinsons Dis (2015) 5:269-79. doi: 10.3233/JPD-140523
2. Selikhova M, Williams DR, Kempster PA, Holton JL, Revesz T, Lees AJ. A clinico-pathological study of subtypes in Parkinson's disease. Brain (2009) 132:2947-57. doi:10.1093/brain/awp234
3. Jankovic J, McDermott M, Carter J, Gauthier S, Goetz C, Golbe L, et al. Variable expression of Parkinson's disease: a base-line analysis of the DATATOP cohort. The Parkinson Study Group. Neurology (1990) 40:1529-34
4. Wickremaratchi MM, Knipe MD, Sastry BS, Morgan E, Jones A, Salmon R, et al. The motor phenotype of Parkinson's disease in relation to age at onset. Mov Disord (2011) 26:457-63. doi:10.1002/mds.23469
5. van Rooden SM, Colas F, Martinez-Martin P, Visser M, Verbaan D, Marinus J, et al. Clinical subtypes of Parkinson's disease. Mov Disord (2011) 26:51-8. doi:10.1002/mds.23346
6. Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, et al. MDS clinical diagnostic criteria for Parkinson's disease. Mov Disord (2015) 30:1591-601. doi:10.1002/mds.26424
7. Connolly BS, Lang AE. Pharmacological treatment of Parkinson disease: a review. JAMA (2014) 311:1670-83. doi:10.1001/jama.2014.3654
8. Korczyn AD, Hassin-Baer S. Can the disease course in Parkinson's disease be slowed? BMC Med (2015) 13:295. doi:10.1186/s12916-015-0534-x
9. Thaler A, Ash E, Gan-Or Z, Orr-Urtreger A, Giladi N. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. J Neural Transm (2009) 116:1473-82. doi:10.1007/s00702-009-0303-0
10. Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology (2008) 70:2277-83. doi:10.1212/01.wnl.0000304039.11891.29
11. Somme JH, Molano Salazar A, Gonzalez A, Tijero B, Berganzo K, Lezcano E, et al. Cognitive and behavioral symptoms in Parkinson's disease patients with the G2019S and R1441G mutations of the LRRK2 gene. Parkinsonism Relat Disord (2015) 21:494-9. doi:10.1016/j.parkreldis.2015.02.019
12. Srivatsal S, Cholerton B, Leverenz JB, Wszolek ZK, Uitti RJ, Dickson DW, et al. Cognitive profile of LRRK2-related Parkinson's disease. Mov Disord (2015) 30:728-33. doi:10.1002/mds.26161
13. Saunders-Pullman R, Alcalay RN, Mirelman A, Wang C, Luciano MS, Ortega RA, et al. REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers. Mov Disord (2015) 30(13):1834-9. doi:10.1002/mds.26413
14. Pont-Sunyer C, Iranzo A, Gaig C, Fernández-Arcos A, Vilas D, Valldeoriola F, et al. Sleep disorders in parkinsonian and nonparkinsonian LRRK2 mutation carriers. PLoS One (2015) 10:e0132368. doi:10.1371/journal.pone.0132368
15. Saunders-Pullman R, Mirelman A, Wang C, Alcalay RN, San Luciano M, Ortega R, et al. Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker? Ann Clin Transl Neurol (2014) 1:670-8. doi:10.1002/acn3.95
16. Alcalay RN, Mejia-Santana H, Mirelman A, Saunders-Pullman R, Raymond D, Palmese C, et al. Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease. Parkinsonism Relat Disord (2015) 21:106-10. doi:10.1016/j.parkreldis.2014.09.033
17. Marras C, Schüle B, Munhoz RP, Rogaeva E, Langston JW, Kasten M, et al. Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology (2011) 77:325-33. doi:10.1212/WNL.0b013e318227042d
18. Goldwurm S, Zini M, Di Fonzo A, De Gaspari D, Siri C, Simons EJ, et al. LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord (2006) 12:410-9. doi:10.1016/j.parkreldis.2006.04.001
19. Belarbi S, Hecham N, Lesage S, Kediha MI, Smail N, Benhassine T, et al. LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort. Parkinsonism Relat Disord (2010) 16:676-9. doi:10.1016/j.parkreldis.2010.09.003
20. Ben Sassi S, Nabli F, Hentati E, Nahdi H, Trabelsi M, Ben Ayed H, et al. Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease. Parkinsonism Relat Disord (2012) 18:243-6. doi:10.1016/j.parkreldis.2011.10.009
21. Alcalay RN, Mejia-Santana H, Tang MX, Rakitin B, Rosado L, Ross B, et al. Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease. J Clin Exp Neuropsychol (2010) 32:775-9. doi:10.1080/13803390903521018
22. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, et al. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology (2012) 78:1434-40. doi:10.1212/WNL.0b013e318253d54b
23. Brockmann K, Srulijes K, Hauser AK, Schulte C, Csoti I, Gasser T, et al. GBA-associated PD presents with nonmotor characteristics. Neurology (2011) 77:276-80. doi:10.1212/WNL.0b013e318225ab77
24. Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet (2014) 23:6139-46. doi:10.1093/hmg/ddu334
25. Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, et al. GBA mutations are associated with rapid eye movement sleep behavior disorder. Ann Clin Transl Neurol (2015) 2:941-5. doi:10.1002/acn3.228
26. Oeda T, Umemura A, Mori Y, Tomita S, Kohsaka M, Park K, et al. Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease. Neurobiol Aging (2015) 36:3306-13. doi:10.1016/j.neurobiolaging.2015.08.027
27. Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, et al. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology (2015) 84:880-7. doi:10.1212/WNL.0000000000001315
28. Jankovic J, Kapadia AS. Functional decline in Parkinson disease. Arch Neurol (2001) 58:1611-5. doi:10.1001/archneur.58.10.1611
29. Mirelman A, Heman T, Yasinovsky K, Thaler A, Gurevich T, Marder K, et al. Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation. Mov Disord (2013) 28:1683-90. doi:10.1002/mds.25587
30. Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, et al. Parkinson disease phenotype in Ashkenazi jews with and without LRRK2 G2019S mutations. Mov Disord (2013) 28:1966-71. doi:10.1002/mds.25647
31. Wang C, Cai Y, Gu Z, Ma J, Zheng Z, Tang BS, et al. Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. Neurobiol Aging (2014) 35(725):e721-6. doi:10.1016/j.neurobiolaging.2013.08.012
32. Nonnekes J, Snijders AH, Nutt JG, Deuschl G, Giladi N, Bloem BR. Freezing of gait: a practical approach to management. Lancet Neurol (2015) 14:768-78. doi:10.1016/S1474-4422(15)00041-1
33. Bloem BR, Hausdorff JM, Visser JE, Giladi N. Falls and freezing of gait in Parkinson's disease: a review of two interconnected, episodic phenomena. Mov Disord (2004) 19:871-84. doi:10.1002/mds.20115
34. Emre M, Ford PJ, Bilgic B, Uc EY. Cognitive impairment and dementia in Parkinson's disease: practical issues and management. Mov Disord (2014) 29:663-72. doi:10.1002/mds.25870
35. Low V, Ben-Shlomo Y, Coward E, Fletcher S, Walker R, Clarke CE. Measuring the burden and mortality of hospitalisation in Parkinson's disease: a cross-sectional analysis of the English Hospital Episodes Statistics database 2009-2013. Parkinsonism Relat Disord (2015) 21:449-54. doi:10.1016/j.parkreldis.2015.01.017
36. Park A, Stacy M. Dopamine-induced nonmotor symptoms of Parkinson's disease. Parkinsons Dis (2011) 2011:485063. doi:10.4061/2011/485063
37. Rascol O, Perez-Lloret S, Ferreira JJ. New treatments for levodopa-induced motor complications. Mov Disord (2015) 30:1451-60. doi:10.1002/mds.26362
38. Poewe W, Mahlknecht P, Jankovic J. Emerging therapies for Parkinson's disease. Curr Opin Neurol (2012) 25:448-59. doi:10.1097/WCO.0b013e3283542fde
39. Yahalom G, Kaplan N, Vituri A, Cohen OS, Inzelberg R, Kozlova E, et al. Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2) G2019S mutation. Parkinsonism Relat Disord (2012) 18:1039-41. doi:10.1016/j.parkreldis.2012.05.014
40. Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet (2011) 20:202-10. doi:10.1093/hmg/ddq454
41. Bjornestad A, Forsaa EB, Pedersen KF, Tysnes OB, Larsen JP, Alves G. Risk and course of motor complications in a population-based incident Parkinson's disease cohort. Parkinsonism Relat Disord (2016) 22:48-53. doi:10.1016/j.parkreldis.2015.11.007
42. Benabid AL, Chabardes S, Torres N, Piallat B, Krack P, Fraix V, et al. Functional neurosurgery for movement disorders: a historical perspective. Prog Brain Res (2009) 175:379-91. doi:10.1016/S0079-6123(09)17525-8
43. St George RJ, Nutt JG, Burchiel KJ, Horak FB. A meta-regression of the long-term effects of deep brain stimulation on balance and gait in PD. Neurology (2010) 75:1292-9. doi:10.1212/WNL.0b013e3181f61329
44. Angeli A, Mencacci NE, Duran R, Aviles-Olmos I, Kefalopoulou Z, Candelario J, et al. Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Mov Disord (2013) 28:1370-5. doi:10.1002/mds.25535
45. Greenbaum L, Israeli-Korn SD, Cohen OS, Elincx-Benizri S, Yahalom G, Kozlova E, et al. The LRRK2 G2019S mutation status does not affect the outcome of subthalamic stimulation in patients with Parkinson's disease. Parkinsonism Relat Disord (2013) 19:1053-6. doi:10.1016/j.parkreldis.2013.07.005
46. Sayad M, Zouambia M, Chaouch M, Ferrat F, Nebbal M, Bendini M, et al. Greater improvement in LRRK2 G2019S patients undergoing subthalamic nucleus deep brain stimulation compared to non-mutation carriers. BMC Neurosci (2016) 17:6. doi:10.1186/s12868-016-0240-4
47. Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, et al. Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization. Mov Disord (2010) 25:1364-72. doi:10.1002/mds.23046
48. Kumar PM, Paing SS, Li H, Pavanni R, Yuen Y, Zhao Y, et al. Differential effect of caffeine intake in subjects with genetic susceptibility to Parkinson's Disease. Sci Rep (2015) 5:15492. doi:10.1038/srep15492
49. Marder K, Wang Y, Alcalay RN, Mejia-Santana H, Tang MX, Lee A, et al. Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium. Neurology (2015) 85:89-95. doi:10.1212/WNL.0000000000001708
50. Trinh J, Guella I, Farrer MJ. Disease penetrance of late-onset parkinsonism: a meta-analysis. JAMA Neurol (2014) 71:1535-9. doi:10.1001/jamaneurol.2014.1909
51. Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Giladi N, Orr-Urtreger A. The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction. J Mol Neurosci (2012) 46:541-4. doi:10.1007/s12031-011-9641-0
52. Gan-Or Z, Bar-Shira A, Dahary D, Mirelman A, Kedmi M, Gurevich T, et al. Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk. Arch Neurol (2012) 69:105-10. doi:10.1001/archneurol.2011.924
53. Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH. et al. Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol (2015) 72:201-8. doi:10.1001/jamaneurol.2014.2950
54. Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, et al. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain (2014) 137:2303-11. doi:10.1093/brain/awu143
55. McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH. A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry (2012) 83:853-4. doi:10.1136/jnnp-2012-302402
56. Mortiboys H, Johansen KK, Aasly JO, Bandmann O. Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2. Neurology (2010) 75:2017-20. doi:10.1212/WNL.0b013e3181ff9685
57. McNeill A, Magalhaes J, Shen C, Chau KY, Hughes D, Mehta A, et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain (2014) 137:1481-95. doi:10.1093/brain/awu020
58. Tijero B, Gómez Esteban JC, Somme J, Llorens V, Lezcano E, Martinez A, et al. Autonomic dysfunction in parkinsonian LRRK2 mutation carriers. Parkinsonism Relat Disord (2013) 19:906-9. doi:10.1016/j.parkreldis.2013.05.008