Page 128 - Read Online
P. 128
Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, gene duplication and familial Parkinson’s disease. Lancet
Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. 2004;364:1169‑71.
Genome‑wide association study identifies common variants at 27. Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF,
four loci as genetic risk factors for Parkinson’s disease. Nat Genet Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M,
2009;41:1303‑7. Takahashi H, Ishikawa A. Patients homozygous and heterozygous
13. Simón‑Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, for SNCA duplication in a family with parkinsonism and dementia.
Paisan‑Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Arch Neurol 2008;65:514‑9.
Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, 28. Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H,
Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K,
Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Clinical
Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, heterogeneity of alpha‑synuclein gene duplication in Parkinson’s
Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, disease. Ann Neurol 2006;59:298‑309.
Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, 29. Singleton AB, Farrer MJ, Johnson J, Singleton A, Hague S,
Gasser T. Genome‑wide association study reveals genetic risk Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R,
underlying Parkinson’s disease. Nat Genet 2009;41:1308‑12. Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C,
14. Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J,
Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Hardy J, Gwinn‑Hardy K. Alpha‑synuclein locus triplication causes
Nahab F, Scott B, Stajich JM, Pericak‑Vance M, Haines J, Vance JM, Parkinson’s disease. Science 2003;302:841.
Martin ER. Genome‑wide association study confirms SNPs in SNCA 30. Ahn TB, Kim SY, Kim JY, Park SS, Lee DS, Min HJ, Kim YK, Kim SE,
and the MAPT region as common risk factors for Parkinson disease. Kim JM, Kim HJ, Cho J, Jeon BS. Alpha‑synuclein gene duplication
Ann Hum Genet 2010;74:97‑109. is present in sporadic Parkinson disease. Neurology 2008;70:43‑9.
15. Fung HC, Scholz S, Matarin M, Simón‑Sánchez J, Hernandez D, 31. Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM,
Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM,
Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Adler CH, Larvor L, Chartier‑Harlin MC, Nilsson C, Langston JW,
Peckham E, De Vrieze FW, Gwinn‑Hardy K, Hardy JA, Singleton A. Gwinn K, Hattori N, Farrer MJ. Genomic investigation of
Genome‑wide genotyping in Parkinson’s disease and neurologically alpha‑synuclein multiplication and parkinsonism. Ann Neurol
normal controls: first stage analysis and public release of data. Lancet 2008;63:743‑50.
Neurol 2006;5:911‑6. 32. Chiba‑Falek O, Lopez GJ, Nussbaum RL. Levels of alpha‑synuclein
16. Kumar KR, Lohmann K, Klein C. Genetics of Parkinson disease and mRNA in sporadic Parkinson disease patients. Mov Disord
other movement disorders. Curr Opin Neurol 2012;25:466‑74. 2006;21:1703‑8.
17. Bras JM, Singleton AB. Exome sequencing in Parkinson’s disease. 33. Gründemann J, Schlaudraff F, Haeckel O, Liss B. Elevated
Clin Genet 2011;80:104‑9. alpha‑synuclein mRNA levels in individual UV‑laser‑microdissected
18. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, dopaminergic substantia nigra neurons in idiopathic Parkinson’s
Jakes R, Goedert M. Alpha‑synuclein in Lewy bodies. Nature disease. Nucleic Acids Res 2008;36:e38.
1997;388:839‑40. 34. Rockenstein E, Hansen LA, Mallory M, Trojanowski JQ, Galasko D,
19. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Masliah E. Altered expression of the synuclein family mRNA in Lewy
Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, body and Alzheimer’s disease. Brain Res 2001;914:48‑56.
Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, 35. Tan EK, Chandran VR, Fook‑Chong S, Shen H, Yew K, Teoh ML,
Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Yuen Y, Zhao Y. Alpha‑synuclein mRNA expression in sporadic
Nussbaum RL. Mutation in the alpha‑synuclein gene identified in Parkinson’s disease. Mov Disord 2005;20:620‑3.
families with Parkinson’s disease. Science 1997;276:2045‑7. 36. Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG,
20. Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, de Andrade M, West A, de Silva R, Hardy J, Hernandez D.
Przuntek H, Epplen JT, Schöls L, Riess O. Ala30Pro mutation in the Alpha‑synuclein gene haplotypes are associated with Parkinson’s
gene encoding alpha‑synuclein in Parkinson’s disease. Nat Genet disease. Hum Mol Genet 2001;10:1847‑51.
1998;18:106‑8. 37. Tan EK, Tan C, Shen H, Chai A, Lum SY, Teoh ML, Yih Y,
21. Zarranz JJ, Alegre J, Gómez‑Esteban JC, Lezcano E, Ros R, Wong MC, Zhao Y. Alpha synuclein promoter and risk of Parkinson’s
Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, disease: microsatellite and allelic size variability. Neurosci Lett
Gomez Tortosa E, del Ser T, Muñoz DG, de Yebenes JG. The new 2003;336:70‑2.
mutation, E46K, of alpha‑synuclein causes Parkinson and Lewy 38. Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van
body dementia. Ann Neurol 2004;55:164‑73. den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C,
22. Nagar S, Juyal RC, Chaudhary S, Behari M, Gupta M, Rao SN, Farrer MJ. alpha‑Synuclein promoter confers susceptibility to
Thelma BK. Mutations in the alpha‑synuclein gene in Parkinson’s Parkinson’s disease. Ann Neurol 2004;56:591‑5.
disease among Indians. Acta Neurol Scand 2001;103:120‑2. 39. Mellick GD, Maraganore DM, Silburn PA. Australian data and
23. Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, meta‑analysis lend support for alpha‑synuclein (NACP‑Rep1) as a
Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, risk factor for Parkinson’s disease. Neurosci Lett 2005;375:112‑6.
Yamamoto M, Hattori N, Murata M, Toda T. Multiple candidate 40. Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP,
gene analysis identifies alpha‑synuclein as a susceptibility gene for Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ,
sporadic Parkinson’s disease. Hum Mol Genet 2006;15:1151‑8. Hulihan MM, Aasly JO, Ashizawa T, Chartier‑Harlin MC,
24. Chartier‑Harlin MC, Kachergus J, Roumier C, Mouroux V, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N,
Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S,
Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A. Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C;
Alpha‑synuclein locus duplication as a cause of familial Parkinson’s Genetic Epidemiology of Parkinson’s Disease (GEO‑PD) Consortium.
disease. Lancet 2004;364:1167‑9. Collaborative analysis of alpha‑synuclein gene promoter variability
25. Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, and Parkinson disease. JAMA 2006;296:661‑70.
Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ. 41. Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K,
Phenotypic variation in a large Swedish pedigree due to SNCA Lohmann‑Hedrich K, Kostic V, Farrer M, Klein C. Alpha‑synuclein
duplication and triplication. Neurology 2007;68:916‑22. and Parkinson disease susceptibility. Neurology 2007;69:1745‑50.
26. Ibáñez P, Bonnet AM, Débarges B, Lohmann E, Tison F, Pollak P, 42. An JJ, Gharami K, Liao GY, Woo NH, Lau AG, Vanevski F, Torre ER,
Agid Y, Dürr A, Brice A. Causal relation between alpha‑synuclein Jones KR, Feng Y, Lu B, Xu B. Distinct role of long 3’ UTR BDNF
122 Neuroimmunol Neuroinflammation | Volume 1 | Issue 3 | December 2014