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Neurocase
Behavior, Cognition and Neuroscience
Volume 20, 2014 - Issue 1
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Original Articles

The GGGGCC Repeat Expansion in C9ORF72 in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome

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REFERENCES

  • Agosta, F., Vossel, K. A., Miller, B. L., Migliaccio, R., Bonasera, S. J., Filippi, M., … Gorno-Tempini, M. L. (2009). Apolipoprotein E epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer’s disease and frontotemporal dementia. Proceedings of the National Academy of Sciences USA, 106, 2018–2022.
  • Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., … Oda, T. (2006). TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochemical and Biophysical Research Communications, 351, 602–611.
  • Boeve, B. F., Boylan, K. B., Graff-Radford, N. R., Dejesus-Hernandez, M., Knopman, D. S., Pedraza, O., … Rademakers, R. (2012). Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain, 135, 765–783.
  • Brooks, B. R., Miller, R. G., Swash, M., & Munsat, T. L. (2000). El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 1, 293–299.
  • DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., … Rademakers, R. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72, 245–256.
  • Fields, J. A., Ferman, T. J., Boeve, B. F., & Smith, G. E. (2011). Neuropsychological assessment of patients with dementing illness. Nature Reviews Neurology, 7, 677–687.
  • Foster, N. L., Heidebrink, J. L., Clark, C. M., Jagust, W. J., Arnold, S. E., Barbas, N. R., … Minoshima, S. (2007). FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer’s disease. Brain, 130, 2616–2635.
  • Gorno-Tempini, M. L., Hillis, A. E., Weintraub, S., Kertesz, A., Mendez, M., Cappa, S. F., … Grossman, M. (2011). Classification of primary progressive aphasia and its variants. Neurology, 76, 1006–1014.
  • Hosler, B. A., Siddique, T., Sapp, P. C., Sailor, W., Huang, M. C., Hossain, A., … Brown, R. H., Jr. (2000). Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. Journal of the American Medical Association, 284, 1664–1669.
  • Hsiung, G. Y., Dejesus-Hernandez, M., Feldman, H. H., Sengdy, P., Bouchard-Kerr, P., Dwosh, E., … Mackenzie, I. R. (2012). Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain, 135, 709–722.
  • Ivnik, R., Malec, J., Smith, G., Tangalos, E., Petersen, R., & Kokmen, E. (1992). Mayo’s Older American Normative Studies: WAIS-R, WMS-R, and AVLT norms for ages 56–97. The Clinical Neuropsychologist, Supp. 1, 1–104.
  • Ivnik, R. J., Malec, J. F., Smith, G. E., Tangalos, E. G.,& Petersen, R. C. (1996). Neuropsychological tests’ norms above age 55: COWAT, BNT, MAE token, WRAT-R reading, AMNART, STROOP, TMT, and JLO. The Clinical Neuropsychologist, 10, 262–278.
  • Jicha, G. A., Parisi, J. E., Dickson, D. W., Johnson, K., Cha, R., Ivnik, R. J., … Petersen, R. C. (2006). Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Archives of Neurology, 63, 674–681.
  • Josephs, K. A. (2008). Frontotemporal dementia and related disorders: Deciphering the enigma. Annals of Neurology, 64, 4–14.
  • Kelley, B. J., Haidar, W., Boeve, B. F., Baker, M., Shiung, M., Knopman, D. S., … Petersen, R. C. (2010). Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Archives of Neurology, 67, 171–177.
  • Khan, B. K., Yokoyama, J. S., Takada, L. T., Sha, S. J., Rutherford, N. J., Fong, J. C., … Miller, B. L. (2012). Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Journal of Neurology, Neurosurgery & Psychiatry, 83, 358–364.
  • Kokmen, E., Naessens, J. M., & Offord, K. P. (1987). A short test of mental status: Description and preliminary results. Mayo Clinic Proceedings, 62, 281–288.
  • Lindquist, S. G., Holm, I. E., Schwartz, M., Law, I., Stokholm, J., Batbayli, M., … Nielsen, J. E. (2008). Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. European Journal of Neurology, 15, 377–385.
  • Lowe, V. J., Kemp, B. J., Jack, C. R., Jr., Senjem, M., Weigand, S., Shiung, M., … Petersen, R. C. (2009). Comparison of 18F-FDG and PiB PET in cognitive impairment. Journal of Nuclear Medicine, 50, 878–886.
  • Lucas, J. A., Ivnik, R. J., Smith, G. E., Bohac, D. L., Tangalos, E. G., Graff-Radford, N. R., & Petersen, R. C. (1998). Mayo’s older Americans normative studies: Category fluency norms. Journal of Clinical and Experimental Neuropsychology, 20, 194–200.
  • Machulda, M. M., Ivnik, R. J., Smith, G. E., Ferman, T. J., Boeve, B. F., Knopman, D., … Tangalos, E. G. (2007). Mayo’s older Americans normative studies: Visual form discrimination and copy trial of the Rey-Osterrieth complex figure. Journal of Clinical and Experimental Neuropsychology, 29, 377–384.
  • Mahoney, C. J., Beck, J., Rohrer, J. D., Lashley, T., Mok, K., Shakespeare, T., … Warren, J. D. (2012). Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features. Brain, 135, 736–750.
  • Majounie, E., Abramzon, Y., Renton, A. E., Perry, R., Bassett, S. S., Pletnikova, O., … Traynor, B. J. (2012). Repeat expansion in C9ORF72 in Alzheimer’s disease. New England Journal of Medicine, 366, 283–284.
  • McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984). Clinical diagnosis of Alzheimer’s disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology, 34, 939–944.
  • McKhann, G. M., Albert, M. S., Grossman, M., Miller, B., Dickson, D., & Trojanowski, J. Q. (2001). Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick’s Disease. Archives of Neurology, 58, 1803–1809.
  • Morita, M., Al-Chalabi, A., Andersen, P. M., Hosler, B.,Sapp, P., Englund, E., … Brown, R. H., Jr. (2006). A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology, 66, 839–844.
  • Murray, M. E., DeJesus-Hernandez, M., Rutherford,N. J., Baker, M., Duara, R., Graff-Radford, N. R., … Dickson, D. W. (2011). Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathologica, 122, 673–690.
  • Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., … Benson, D. F. (1998). Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology, 51, 1546–1554.
  • Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., … Lee, V. M.-Y. (2006). Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science, 314, 130–133.
  • Pedraza, O., Lucas, J. A., Smith, G. E., Petersen, R. C., Graff-Radford, N. R., & Ivnik, R. J. (2010). Robust and expanded norms for the Dementia Rating Scale. Archives of Clinical Neuropsychology, 25, 347–358.
  • Petersen, R. C., Doody, R., Kurz, A., Mohs, R. C., Morris, J. C., Rabins, P. V., … Winblad, B. (2001). Current concepts in mild cognitive impairment. Archives of Neurology, 58, 1985–1992.
  • Rademakers, R., Baker, M., Gass, J., Adamson, J., Huey, E. D., Momeni, P., … Hutton, M. (2007). Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: An international initiative. The Lancet Neurology, 6, 857–868.
  • Rademakers, R., Dermaut, B., Peeters, K., Cruts, M.,Heutink, P., Goate, A., & Van Broeckhoven, C. (2003). Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Human Mutation, 22, 409–411.
  • Rascovsky, K., Hodges, J. R., Knopman, D., Mendez,M. F., Kramer, J. H., Neuhaus, J., … Miller, B. L. (2011). Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain, 134, 2456–2477.
  • Renton, A. E., Majounie, E., Waite, A., Simon-Sanchez, J., Rollinson, S., Gibbs, J. R., … Traynor, B. J. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257–268.
  • Rollinson, S., Halliwell, N., Young, K., Callister, J. B., Toulson, G., Gibbons, L., … Pickering-Brown, S. M. (2012). Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer’s disease. Neurobiology of Aging, 33, 1846 e1845–e1846.
  • Seripa, D., Bizzarro, A., Panza, F., Acciarri, A., Pellegrini, F., Pilotto, A., & Masullo, C. (2011). The APOE gene locus in frontotemporal dementia and primary progressive aphasia. Archives of Neurology, 68, 622–628.
  • Simon-Sanchez, J., Dopper, E. G., Cohn-Hokke, P. E., Hukema, R. K., Nicolaou, N., Seelaar, H., … van Swieten, J. C. (2012). The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain, 135, 723–735.
  • Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M., … Pickering-Brown, S. M. (2012). Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain, 135, 693–708.
  • Tsai, M. S., Tangalos, E. G., Petersen, R. C., Smith, G. E., Schaid, D. J., Kokmen, E., … Thibodeau, S. N. (1994). Apolipoprotein E: Risk factor for Alzheimer disease. American Journal of Human Genetics, 54, 643–649.
  • Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., DeJesus-Hernandez, M., et al. (2012). Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain, 135, 794–806.

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