C9ORF72 repeat expansions in Chinese patients with Parkinson’s disease and multiple system atrophy

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go back to reference Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupre N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Dion PA, Rouleau GA (2013) Investigation of C9orf72 repeat expansions in Parkinson’s disease. Neurobiol Aging 34(6):1710. doi:10.1016/j.neurobiolaging.2012.11.025 (e1717–1719) PubMedCrossRef Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupre N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Dion PA, Rouleau GA (2013) Investigation of C9orf72 repeat expansions in Parkinson’s disease. Neurobiol Aging 34(6):1710. doi:10.​1016/​j.​neurobiolaging.​2012.​11.​025 (e1717–1719) PubMedCrossRef

go back to reference Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA (2013) Analysis of the C9orf72 repeat in Parkinson’s disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord 19(2):198–201. doi:10.1016/j.parkreldis.2012.09.013 PubMedCrossRef Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA (2013) Analysis of the C9orf72 repeat in Parkinson’s disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord 19(2):198–201. doi:10.​1016/​j.​parkreldis.​2012.​09.​013 PubMedCrossRef

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go back to reference Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C (2013) Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 34(5):1519. doi:10.1016/j.neurobiolaging.2012.10.001 (e1511–1512) PubMedCrossRef Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C (2013) Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 34(5):1519. doi:10.​1016/​j.​neurobiolaging.​2012.​10.​001 (e1511–1512) PubMedCrossRef

go back to reference Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135(Pt 3):709–722. doi:10.1093/brain/awr354 PubMedPubMedCentralCrossRef Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135(Pt 3):709–722. doi:10.​1093/​brain/​awr354 PubMedPubMedCentralCrossRef

go back to reference Hubers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Hogel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE (2014) Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Neurobiol Aging 35(5):1214. doi:10.1016/j.neurobiolaging.2013.11.034 (e1211–1216) PubMedCrossRef Hubers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Hogel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE (2014) Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Neurobiol Aging 35(5):1214. doi:10.​1016/​j.​neurobiolaging.​2013.​11.​034 (e1211–1216) PubMedCrossRef

go back to reference Jiao B, Guo JF, Wang YQ, Yan XX, Zhou L, Liu XY, Zhang FF, Zhou YF, Xia K, Tang BS, Shen L (2013) C9orf72 mutation is rare in Alzheimer’s disease, Parkinson’s disease, and essential tremor in China. Front Cell Neurosci 7:164. doi:10.3389/fncel.2013.00164 PubMedPubMedCentralCrossRef Jiao B, Guo JF, Wang YQ, Yan XX, Zhou L, Liu XY, Zhang FF, Zhou YF, Xia K, Tang BS, Shen L (2013) C9orf72 mutation is rare in Alzheimer’s disease, Parkinson’s disease, and essential tremor in China. Front Cell Neurosci 7:164. doi:10.​3389/​fncel.​2013.​00164 PubMedPubMedCentralCrossRef

go back to reference Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Durr A, Brice A (2013) C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136(Pt 2):385–391. doi:10.1093/brain/aws357 PubMedPubMedCentralCrossRef Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Durr A, Brice A (2013) C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136(Pt 2):385–391. doi:10.​1093/​brain/​aws357 PubMedPubMedCentralCrossRef

go back to reference Lin CH, Chen TF, Chiu MJ, Lin HI, Wu RM (2014) Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders. Front Neurol 5:59. doi:10.3389/fneur.2014.00059 PubMedPubMedCentralCrossRef Lin CH, Chen TF, Chiu MJ, Lin HI, Wu RM (2014) Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders. Front Neurol 5:59. doi:10.​3389/​fneur.​2014.​00059 PubMedPubMedCentralCrossRef

go back to reference Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE (2013) Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 83(3):279–283. doi:10.1111/j.1399-0004.2012.01903.x PubMedCrossRef Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE (2013) Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 83(3):279–283. doi:10.​1111/​j.​1399-0004.​2012.​01903.​x PubMedCrossRef

go back to reference Luigetti M, Quaranta D, Conte A, Piccininni C, Lattante S, Romano A, Silvestri G, Zollino M, Sabatelli M (2013) Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotroph Lateral Scler Frontotemporal Degener 14(1):66–69. doi:10.3109/17482968.2012.692383 PubMedCrossRef Luigetti M, Quaranta D, Conte A, Piccininni C, Lattante S, Romano A, Silvestri G, Zollino M, Sabatelli M (2013) Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotroph Lateral Scler Frontotemporal Degener 14(1):66–69. doi:10.​3109/​17482968.​2012.​692383 PubMedCrossRef

go back to reference Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB (2012a) Large C9orf72 repeat expansions are not a common cause of Parkinson’s disease. Neurobiol Aging 33(10):2527. doi:10.1016/j.neurobiolaging.2012.05.007 (e2521–2522) PubMedPubMedCentralCrossRef Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB (2012a) Large C9orf72 repeat expansions are not a common cause of Parkinson’s disease. Neurobiol Aging 33(10):2527. doi:10.​1016/​j.​neurobiolaging.​2012.​05.​007 (e2521–2522) PubMedPubMedCentralCrossRef

go back to reference Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012b) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323–330. doi:10.1016/S1474-4422(12)70043-1 PubMedPubMedCentralCrossRef Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012b) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323–330. doi:10.​1016/​S1474-4422(12)70043-1 PubMedPubMedCentralCrossRef

go back to reference Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Zuchner S, Pericak-Vance MA, Vance JM (2013) C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 77(5):351–363. doi:10.1111/ahg.12033 PubMedPubMedCentral Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Zuchner S, Pericak-Vance MA, Vance JM (2013) C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 77(5):351–363. doi:10.​1111/​ahg.​12033 PubMedPubMedCentral

go back to reference Nuytemans K, Inchausti V, Beecham GW, Wang L, Dickson DW, Trojanowski JQ, Lee VM, Mash DC, Frosch MP, Foroud TM, Honig LS, Montine TJ, Dawson TM, Martin ER, Scott WK, Vance JM (2014) Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson’s disease. Mov Disord 29(6):827–830. doi:10.1002/mds.25838 PubMedPubMedCentralCrossRef Nuytemans K, Inchausti V, Beecham GW, Wang L, Dickson DW, Trojanowski JQ, Lee VM, Mash DC, Frosch MP, Foroud TM, Honig LS, Montine TJ, Dawson TM, Martin ER, Scott WK, Vance JM (2014) Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson’s disease. Mov Disord 29(6):827–830. doi:10.​1002/​mds.​25838 PubMedPubMedCentralCrossRef

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go back to reference Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging 36(2):1223. doi:10.1016/j.neurobiolaging.2014.08.033 (e1221–1222) PubMedCrossRef Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging 36(2):1223. doi:10.​1016/​j.​neurobiolaging.​2014.​08.​033 (e1221–1222) PubMedCrossRef

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