Abstract
Abnormal hexanucleotide repeat expansion of C9ORF72 is known to cause neurodegenerative disorders such as frontotemporal dementia. Additionally, patients with psychotic symptoms are more likely to have abnormal hexanucleotide repeat expansion than are patients without them. We investigated the hexanucleotide repeat sizes of C9ORF72 in 466 Japanese schizophrenia patients. We found no abnormal hexanucleotide repeat expansion. In conclusion, C9ORF72 may not be responsible for schizophrenia susceptibility in the Japanese population.
This is a preview of subscription content, log in via an institution to check access.
References
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92(3):345–353. doi:10.1016/j.ajhg.2013.01.011
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245–256. doi:10.1016/j.neuron.2011.09.011
Galimberti D, Reif A, Dell’osso B, Kittel-Schneider S, Leonhard C, Herr A, Palazzo C, Villa C, Fenoglio C, Serpente M, Cioffi SM, Prunas C, Paoli RA, Altamura AC, Scarpini E (2013) The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia. Neurobiol Aging 35(5):1214.e7–1214.e10. doi:10.1016/j.neurobiolaging.2013.12.004
Galimberti D, Reif A, Dell’Osso B, Palazzo C, Villa C, Fenoglio C, Kittel-Schneider S, Leonhard C, Olmes DG, Serpente M, Paoli RA, Altamura AC, Scarpini E (2014) C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder. Bipolar Disord 16(4):448–449. doi:10.1111/bdi.12169
Huey ED, Nagy PL, Rodriguez-Murillo L, Manoochehri M, Goldman J, Lieberman J, Karayiorgou M, Mayeux R (2013) C9ORF72 repeat expansions not detected in a group of patients with schizophrenia. Neurobiol Aging 34(4):1309. doi:10.1016/j.neurobiolaging.2012.08.011
Ingvar DH, Franzen G (1974) Abnormalities of cerebral blood flow distribution in patients with chronic schizophrenia. Acta Psychiatr Scand 50(4):425–462
Meisler MH, Grant AE, Jones JM, Lenk GM, He F, Todd PK, Kamali M, Albin RL, Lieberman AP, Langenecker SA, McInnis MG (2013) C9ORF72 expansion in a family with bipolar disorder. Bipolar Disord 15(3):326–332. doi:10.1111/bdi.12063
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G (2012) Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 33(10):2527e11–2527e16. doi:10.1016/j.neurobiolaging.2012.05.011
Pliner HA, Mann DM, Traynor BJ (2014) Searching for grendel: origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol 127(3):391–396. doi:10.1007/s00401-014-1250-x
Rademakers R (2012) C9orf72 repeat expansions in patients with ALS and FTD. Lancet Neurol 11(4):297–298. doi:10.1016/S1474-4422(12)70046-7
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. doi:10.1016/j.neuron.2011.09.010
Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM, Pickering-Brown SM (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135(Pt3):693–708. doi:10.1093/brain/awr355
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Yoshino, Y., Mori, Y., Ochi, S. et al. No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients. J Neural Transm 122, 731–732 (2015). https://doi.org/10.1007/s00702-014-1295-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00702-014-1295-y