Page 129 - Read Online
P. 129
mRNA in spine morphology and synaptic plasticity in hippocampal in Arab‑Berber patients from Tunisia: a case‑control genetic study.
neurons. Cell 2008;134:175‑87. Lancet Neurol 2008;7:591‑4.
43. Mikulits W, Schranzhofer M, Beug H, Müllner EW. Post‑transcriptional 57. Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S,
control via iron‑responsive elements: the impact of aberrations in Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E,
hereditary disease. Mutat Res 1999;437:219‑30. Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK,
44. Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ,
Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Wood NW; International LRRK2 Consortium. Phenotype, genotype,
Yamamoto M, Hattori N, Murata M, Toda T. Multiple candidate and worldwide genetic penetrance of LRRK2‑associated Parkinson’s
gene analysis identifies alpha‑synuclein as a susceptibility gene for disease: a case‑control study. Lancet Neurol 2008;7:583‑90.
sporadic Parkinson’s disease. Hum Mol Genet 2006;15:1151‑8. 58. Tan EK, Shen H, Tan LC, Farrer M, Yew K, Chua E, Jamora RD,
45. Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Puvan K, Puong KY, Zhao Y, Pavanni R, Wong MC, Yih Y, Skipper L,
Farrer MJ. Multiple alpha‑synuclein gene polymorphisms are Liu JJ. The G2019S LRRK2 mutation is uncommon in an Asian
associated with Parkinson’s disease in a Norwegian population. cohort of Parkinson’s disease patients. Neurosci Lett 2005;384:327‑9.
Acta Neurol Scand 2008;118:320‑7. 59. Lu CS, Simons EJ, Wu‑Chou YH, Fonzo AD, Chang HC, Chen RS,
46. Ross OA, Gosal D, Stone JT, Lincoln SJ, Heckman MG, Irvine GB, Weng YH, Rohé CF, Breedveld GJ, Hattori N, Gasser T, Oostra BA,
Johnston JA, Gibson JM, Farrer MJ, Lynch T. Familial genes in Bonifati V. The LRRK2 I2012T, G2019S, and I2020T mutations
sporadic disease: common variants of alpha‑synuclein gene associate are rare in Taiwanese patients with sporadic Parkinson’s disease.
with Parkinson’s disease. Mech Ageing Dev 2007;128:378‑82. Parkinsonism Relat Disord 2005;11:521‑2.
47. Rajput A, Vilariño‑Güell C, Rajput ML, Ross OA, Soto‑Ortolaza AI, 60. Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A,
Lincoln SJ, Cobb SA, Heckman MG, Farrer MJ, Rajput A. Bras J. Analysis of Nigerians with apparently sporadic Parkinson
Alpha‑synuclein polymorphisms are associated with Parkinson’s disease for mutations in LRRK2, PRKN and ATXN3. PLoS One
disease in a Saskatchewan population. Mov Disord 2009;24:2411‑4. 2008;3:e3421.
48. Fuchs J, Tichopad A, Golub Y, Munz M, Schweitzer KJ, Wolf B, 61. Di Fonzo A, Wu‑Chou YH, Lu CS, van Doeselaar M, Simons EJ,
Berg D, Mueller JC, Gasser T. Genetic variability in the SNCA gene Rohé CF, Chang HC, Chen RS, Weng YH, Vanacore N,
influences alpha‑synuclein levels in the blood and brain. FASEB J Breedveld GJ, Oostra BA, Bonifati V. A common missense variant
2008;22:1327‑34. in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease
49. Paisán‑Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der risk in Taiwan. Neurogenetics 2006;7:133‑8.
Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, 62. Farrer MJ, Stone JT, Lin CH, Dächsel JC, Hulihan MM,
Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Haugarvoll K, Ross OA, Wu RM. Lrrk2 G2385R is an ancestral risk
Martí‑Massó JF, Pérez‑Tur J, Wood NW, Singleton AB. Cloning of factor for Parkinson’s disease in Asia. Parkinsonism Relat Disord
the gene containing mutations that cause PARK8‑linked Parkinson’s 2007;13:89‑92.
disease. Neuron 2004;44:595‑600. 63. An XK, Peng R, Li T, Burgunder JM, Wu Y, Chen WJ, Zhang JH,
50. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Wang YC, Xu YM, Gou YR, Yuan GG, Zhang ZJ. LRRK2
Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Gly2385Arg variant is a risk factor of Parkinson’s disease among
Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller‑Myhsok B, Han‑Chinese from mainland China. Eur J Neurol 2008;15:301‑5.
Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. 64. Lu CS, Wu‑Chou YH, van Doeselaar M, Simons EJ, Chang HC,
Mutations in LRRK2 cause autosomal‑dominant parkinsonism with Breedveld GJ, Di Fonzo A, Chen RS, Weng YH, Lai SC, Oostra BA,
pleomorphic pathology. Neuron 2004;44:601‑7. Bonifati V. The LRRK2 Arg1628Pro variant is a risk factor for
51. Di Fonzo A, Rohé CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Parkinson’s disease in the Chinese population. Neurogenetics
Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, 2008;9:271‑6.
Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati 65. Zhang Z, Burgunder JM, An X, Wu Y, Chen W, Zhang J, Wang Y,
V; Italian Parkinson Genetics Network. A frequent LRRK2 gene Xu Y, Gou Y, Yuan G, Mao X, Peng R. LRRK2 R1628P variant is a
mutation associated with autosomal dominant Parkinson’s disease. risk factor of Parkinson’s disease among Han‑Chinese from mainland
Lancet 2005;365:412‑5. China. Mov Disord 2009;24:1902‑5.
52. Gilks WP, Abou‑Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, 66. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H,
Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Pickering‑Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J,
Holton JL, Revesz T, Wood NW. A common LRRK2 mutation in Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M,
idiopathic Parkinson’s disease. Lancet 2005;365:415‑6. de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M,
53. Ozelius LJ, Senthil G, Saunders‑Pullman R, Ohmann E, Deligtisch A, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA,
Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F,
Soto‑Valencia J, Risch N, Bressman SB. LRRK2 G2019S as a Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR,
cause of Parkinson’s disease in Ashkenazi Jews. N Engl J Med Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA,
2006;354:424‑5. Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P.
54. Lesage S, Dürr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Association of missense and 5’‑splice‑site mutations in tau with the
Pollak P, Brice A; French Parkinson’s Disease Genetics Study Group. inherited dementia FTDP‑17. Nature 1998;393:702‑5.
LRRK2 G2019S as a cause of Parkinson’s disease in North African 67. Kwok JB, Teber ET, Loy C, Hallupp M, Nicholson G, Mellick GD,
Arabs. N Engl J Med 2006;354:422‑3. Buchanan DD, Silburn PA, Schofield PR. Tau haplotypes regulate
55. Ishihara L, Gibson RA, Warren L, Amouri R, Lyons K, Wielinski C, transcription and are associated with Parkinson’s disease. Ann
Hunter C, Swartz JE, Elango R, Akkari PA, Leppert D, Surh L, Neurol 2004;55:329‑34.
Reeves KH, Thomas S, Ragone L, Hattori N, Pahwa R, Jankovic J, 68. Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A,
Nance M, Freeman A, Gouider‑Khouja N, Kefi M, Zouari M, Ben Roberts JW, Leis BC, Kay DM, Yearout D, Montimurro JS,
Sassi S, Ben Yahmed S, El Euch‑Fayeche G, Middleton L, Burn DJ, Edwards KL, Samii A, Payami H. Association analysis of MAPT H1
Watts RL, Hentati F. Screening for Lrrk2 G2019S and clinical haplotype and subhaplotypes in Parkinson’s disease. Ann Neurol
comparison of Tunisian and North American Caucasian Parkinson’s 2007;62:137‑44.
disease families. Mov Disord 2007;22:55‑61. 69. Williams‑Gray CH, Evans JR, Goris A, Foltynie T, Ban M,
56. Hulihan MM, Ishihara‑Paul L, Kachergus J, Warren L, Amouri R, Robbins TW, Brayne C, Kolachana BS, Weinberger DR, Sawcer SJ,
Elango R, Prinjha RK, Upmanyu R, Kefi M, Zouari M, Sassi SB, Barker RA. The distinct cognitive syndromes of Parkinson’s disease:
Yahmed SB, El Euch‑Fayeche G, Matthews PM, Middleton LT, 5 year follow‑up of the CamPaIGN cohort. Brain 2009;132:2958‑69.
Gibson RA, Hentati F, Farrer MJ. LRRK2 Gly2019Ser penetrance 70. Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A,
Neuroimmunol Neuroinflammation | Volume 1 | Issue 3 | December 2014 123