Association of Parkinson disease risk loci with mild parkinsonian signs in older persons

JAMA Neurology

Volumn 71, Issue 4, 2014, Pages 429-435

  Shulman, Joshua M ^a,b   Yu, Lei ^c   Buchman, Aron S ^c   Evans, Denis A ^d   Schneider, Julie A ^c   Bennett, David A ^c   De Jager, Philip L ^e,f,g  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Texas Children's Hospital   (United States)

^c RUSH UNIVERSITY MEDICAL CENTER   (United States)

^d RUSH UNIVERSITY MEDICAL CENTER   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; AUTOPSY; BRADYKINESIA; BRAIN NERVE CELL; CCDC62 GENE; CELL LOSS; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GAIT DISORDER; GAK GENE; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; LEWY BODY; MAJOR CLINICAL STUDY; MALE; MAPT GENE; MOLECULAR PATHOLOGY; NMD3 GENE; PARKINSON DISEASE; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; RIGIDITY; RISK ASSESSMENT; RISK FACTOR; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SNCA GENE; SREBF1 GENE; SUBSTANTIA NIGRA; TREMOR;

AGE FACTORS; AGED; AGED, 80 AND OVER; COHORT STUDIES; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LEWY BODIES; LONGITUDINAL STUDIES; MALE; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RISK FACTORS;

EID: 84897954294     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.6222     Document Type: Article

References (43)

1. Lees AJ, Hardy J, Revesz T. Parkinson's disease. Lancet. 2009;373(9680): 2055-2066.
2. Buchman AS, Shulman JM, Nag S, et al. Nigral pathology and parkinsonian signs in elders without Parkinson disease. Ann Neurol. 2012;71(2): 258-266.
3. Fearnley JM, Lees AJ. Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain. 1991;114(pt 5): 2283-2301.
4. Ross GW, Petrovitch H, Abbott RD, et al. Parkinsonian signs and substantia nigra neuron density in decendents elders without PD. Ann Neurol. 2004;56(4): 532-539. (Pubitemid 39319343)
5. Rodriguez-Oroz MC, Jahanshahi M, Krack P, et al. Initial clinical manifestations of Parkinson's disease: features and pathophysiological mechanisms. Lancet Neurol. 2009;8(12): 1128-1139.
6. Buchman ASA, Leurgans SES, Nag SS, Bennett DAD, Schneider JAJ. Cerebrovascular disease pathology and parkinsonian signs in old age. Stroke. 2011;42(11): 3183-3189.
7. Buchman AS, Yu L, Boyle PA, et al. Microvascular brain pathology and late-life motor impairment. Neurology. 2013;80(8): 712-718.
8. Horvath J, Burkhard PR, Bouras C, Kövari E. Etiologies of parkinsonism in a century-long autopsy-based cohort. Brain Pathol. 2013;23(1): 28-33.
9. Louis ED, Luchsinger JA, Tang MX, Mayeux R. Parkinsonian signs in older people: prevalence and associations with smoking and coffee. Neurology. 2003;61(1): 24-28. (Pubitemid 36818741)
10. Louis ED, Bennett DA.Mild Parkinsonian signs: an overview of an emerging concept. Mov Disord. 2007;22(12): 1681-1688. (Pubitemid 47597591)
11. Bennett DA, Beckett LA, Murray AM, et al. Prevalence of parkinsonian signs and associated mortality in a community population of older people. N Engl J Med. 1996;334(2): 71-76. (Pubitemid 26017932)
12. Buchman AS, Leurgans SE, Boyle PA, Schneider JA, Arnold SE, Bennett DA. Combinations of motor measures more strongly predict adverse health outcomes in old age: the Rush Memory and Aging Project, a community-based cohort study. BMC Med. 2011;9(1):42. doi:10.1186/1741-7015-9-42.
13. Louis ED, Tang MX, Schupf N, Mayeux R. Functional correlates and prevalence of mild parkinsonian signs in a community population of older people. Arch Neurol. 2005;62(2): 297-302. (Pubitemid 40204752)
14. Louis ED, Schupf N, Manly J, Marder K, Tang MX, Mayeux R. Association between mild parkinsonian signs and mild cognitive impairment in a community. Neurology. 2005;64(7): 1157-1161.
15. Richards M, Stern Y, Mayeux R. Subtle extrapyramidal signs and incident dementia: A follow-up analysis. Neurology. 1995;45(10):1942. doi:10.1212/WNL.45.10.1942. (Pubitemid 27122977)
16. Wilson RS, Schneider JA, Bienias JL, Evans DA, Bennett DA. Parkinsonianlike signs and risk of incident Alzheimer disease in older persons. Arch Neurol. 2003;60(4): 539-544. (Pubitemid 36427968)
17. Hamza TH, Zabetian CP, Tenesa A, et al. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet. 2010;42(9): 781-785.
18. International Parkinson's Disease Genomics Consortium (IPDGC);Wellcome Trust Case Control Consortium 2 (WTCCC2). A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 2011;7(6): e1002142. doi:10.1371/journal.pgen.1002142.
19. Do CB, Tung JY, Dorfman E, et al.Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011;7(6): e1002141. doi:10.1371/journal.pgen.1002141.
20. Nalls MA, Plagnol V, Hernandez DG, et al; International Parkinson Disease Genomics Consortium. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: ameta-analysis of genome-wide association studies. Lancet. 2011;377(9766): 641-649.
21. Bennett DA, Schneider JA, Arvanitakis Z, Wilson RS. Overview and findings from the Religious Orders Study. Curr Alzheimer Res. 2012;9(6): 628-645.
22. Bennett DAD, Schneider JAJ, Buchman ASA, Barnes LLL, Boyle PAP, Wilson RSR. Overview and findings from the Rush Memory and Aging Project. Curr Alzheimer Res. 2012;9(6): 646-663.
23. Bennett DA, Shannon KM, Beckett LA, Wilson RS. Dimensionality of parkinsonian signs in aging and Alzheimer's disease. J Gerontol A Biol Sci Med Sci. 1999;54(4):M191-M196. (Pubitemid 29183865)
24. Schneider JA, Li J-L, Li Y, Wilson RS, Kordower JH, Bennett DA. Substantia nigra tangles are related to gait impairment in older persons. Ann Neurol. 2006;59(1): 166-173. (Pubitemid 43042883)
25. Braak H, Del Tredici K, Rüb U, de Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging. 2003;24(2): 197-211. (Pubitemid 36007810)
26. Bennett DA, Wilson RS, Schneider JA, et al. Apolipoprotein E ε4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology. 2003;60(2): 246-252. (Pubitemid 36152017)
27. Corneveaux JJ, Myers AJ, Allen AN, et al. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet. 2010;19(16): 3295-3301.
28. 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature. 2012;491(7422): 56-65.
29. Browning BL, Browning SR. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet. 2009;84(2): 210-223.
30. Lill CM, Roehr JT, McQueen MB, et al; 23andMe Genetic Epidemiology of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium; Parkinson's Disease GWAS Consortium;Wellcome Trust Case Control Consortium 2. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database. PLoS Genet. 2012;8(3):e1002548. doi:10.1371 /journal.pgen.1002548.
31. Jankovic J, McDermottM, Carter J, et al; Parkinson Study Group. Variable expression of Parkinson's disease: A base-line analysis of the DATATOP cohort. Neurology. 1990;40(10): 1529-1534. (Pubitemid 20351344)
32. Alcalay RN, Mejia-Santana H, Tang MX, et al. Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. Arch Neurol. 2009;66(12): 1517-1522.
33. Pankratz N, Wilk JB, Latourelle JC, et al; PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009;124(6): 593-605.
34. Postuma RB, Lang AE, Gagnon JF, Pelletier A, Montplaisir JY. How does parkinsonism start? prodromal parkinsonism motor changes in idiopathic REM sleep behaviour disorder. Brain. 2012;135(pt 6): 1860-1870.
35. Sonnen JA, Postupna N, Larson EB, et al. Pathologic correlates of dementia in individuals with Lewy body disease. Brain Pathol. 2010;20(3): 654-659.
36. Liu Y, Stern Y, Chun MR, Jacobs DM, Yau P, Goldman JE. Pathological correlates of extrapyramidal signs in Alzheimer's disease. Ann Neurol. 1997;41(3): 368-374. (Pubitemid 27114048)
37. Burns JM, Galvin JE, Roe CM, Morris JC, McKeel DW. The pathology of the substantia nigra in Alzheimer disease with extrapyramidal signs. Neurology. 2005;64(8): 1397-1403. (Pubitemid 40570508)
38. Mirelman A, Gurevich T, Giladi N, Bar-Shira A, Orr-Urtreger A, Hausdorff JM. Gait alterations in healthy carriers of the LRRK2 G2019S mutation. Ann Neurol. 2011;69(1): 193-197.
39. Greene CS, Penrod NM, Williams SM, Moore JH. Failure to replicate a genetic associationmay provide important clues about genetic architecture. PLoS One. 2009;4(6):e5639.
40. Lin P-I, Vance JM, Pericak-Vance MA, Martin ER. No gene is an island: the flip-flop phenomenon. Am J Hum Genet. 2007;80(3): 531-538.
41. Dickson DW, Fujishiro H, DelleDonne A, et al. Evidence that incidental Lewy body disease is pre-symptomatic Parkinson's disease. Acta Neuropathol. 2008;115(4): 437-444.
42. Wider C, Ross OA, Nishioka K, et al. An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry. 2012;83(4): 424-429.
43. Braak H, Del Tredici K. Nervous system pathology in sporadic Parkinson disease. Neurology. 2008;70(20): 1916-1925. (Pubitemid 351684646)