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Behavior, Cognition and Neuroscience
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TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

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Pages 301-305 | Received 18 Dec 2017, Accepted 01 Feb 2019, Published online: 16 Feb 2019

References

  • Abbate, C., Arosio, B., Galimberti, D., Nicolini, P., Chiara, L. R., Rossi, P. D., … Mari, D. (2014). Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits. Journal of Alzheimer’s Disease, 40, 849–855. doi:10.3233/JAD-132033
  • Benajiba, L., Ber, I. L., Camuzat, A., Lacoste, M., Thomas-Anterion, C., Couratier, P., … Brice, A. (2009). TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Annals of Neurology, 65, 470–474. doi:10.1002/ana.21612
  • Benton, A., & Hamsher, K. (1976). Multilingua aphasia examination. Iowa City: University of Iowa.
  • Caroppo, P., Camuzat, A., Guillot-Noel, L., Thomas-Antérion, C., Couratier, P., Wong, T. H., … Le Ber, I. (2016). Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. Neurology Genetics, 2, e80. doi:10.1212/NXG.0000000000000080
  • Cerami, C., Marcone, A., Galimberti, D., Villa, C., Fenoglio, C., Scarpini, E., & Cappa, S. F. (2013). Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia. Journal of Alzheimer’s Disease, 36, 415–420. doi:10.3233/JAD-130125
  • Cheng, Y. W., Lee, M. J., Chen, T. F., Cheng, T. W., Lai, Y. M., Hua, M. S., & Chiu, M. J. (2016). A single nucleotide TDP-43 mutation within a Taiwanese family: A multifaceted demon. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17, 292–294. doi:10.3109/21678421.2015.1111905
  • Coon, E. A., Whitwell, J. L., Parisi, J. E., Dickson, D. W., & Josephs, K. A. (2012). Right temporal variant frontotemporal dementia with motor neuron disease. Journal of Clinical Neuroscience, 19, 85–91. doi:10.1016/j.jocn.2011.06.007
  • Davidson, Y., Kelley, T., Mackenzie, I. R. A., Pickering-Brown, S., Du Plessis, D., Neary, D., … Mann, D. M. A. (2007). Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43. Acta Neuropathologica, 113, 521–533. doi:10.1007/s00401-006-0189-y
  • Davies, R. R., Hodges, J. R., Kril, J. J., Patterson, K., Halliday, G. M., & Xuereb, J. H. (2005). The pathological basis of semantic dementia. Brain, 128, 1984–1995. doi:10.1093/brain/awh582
  • Diehl, J., Grimmer, T., Drzezga, A., Riemenschneider, M., Förstl, H., & Kurz, A. (2004). Cerebral metabolic patterns at early stages of frontotemporal dementia and semantic dementia. A PET study. Neurobiology of Aging, 25, 1051–1056. doi:10.1016/j.neurobiolaging.2003.10.007
  • Floris, G., Borghero, G., Cannas, A., Di Stefano, F., Murru, M. R., Corongiu, D., … Marrosu, F. (2015). Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. Journal of Neurology, 262, 375–384. doi:10.1007/s00415-015-7653-3
  • Folstein, M., Folstein, S., & McHuhg, P. (1975). “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. Journal of Psychiatric Research, 12, 189–198. doi:10.1016/0022-3956(75)90026-6
  • Freedman, M., Leach, L., Kaplan, E., Winocur, G., Shulman, K., & Delis, D. (1994). Clock drawing. A neuropsychological analysis. New York, NY: Oxford University Press.
  • Gelpi, E., van der Zee, J., Turon Estrada, A., Van Broeckhoven, C., & Sanchez-Valle, R. (2014). TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy. Neuropathology and Applied Neurobiology, 40, 225–230. doi:10.1111/nan.12063
  • Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B., Levitch, D., … Cairns, N. J. (2008). TDP-43 A315T mutation in familial motor neuron disease. Annals of Neurology, 63, 535–538. doi:10.1002/ana.21344
  • Goldman, J. S., Farmer, J. M., Wood, E. M., Johnson, J. K., Boxer, A., Neuhaus, J., … Miller, B. L. (2005). Comparison of family histories in FTLD subtypes and related tauopathies. Neurology, 65, 1817–1819. doi:10.1212/01.wnl.0000187068.92184.63
  • Gorno-Tempini, M., Hillis, A., Weintraub, S., Kertesz, A., Mendez, M., Cappa, S., … Grossman, M. (2011). Classification of primary progressive aphasia and its variants. Neurology, 76, 1006–1014. doi:10.1212/WNL.0b013e31821103e6
  • Hodges, J. R., Mitchell, J., Dawson, K., Spillantini, M. G., Xuereb, J. H., McMonagle, P., … Patterson, K. (2010). Semantic dementia: Demography, familial factors and survival in a consecutive series of 100 cases. Brain, 133(1), 300–306.
  • Hodges, J. R., Patterson, K., Oxbury, S., & Funnell, E. (1992). Semantic dementia. Progressive fluent aphasia with temporal lobe atrophy. Brain, 115, 1783–1806. doi:10.1093/brain/115.6.1783
  • Kaplan, E., Goodglass, H., & Weintraub, S. (1983). The Boston naming test. Philadelphia, PA: Lea & Febiger.
  • Kim, S. H., Seo, S. W., Go, S. M., Suh, M. K., Chin, J., Jeong, J. H., & Na, D. L. (2009). Semantic dementia combined with motor neuron disease. Journal of Clinical Neuroscience, 16, 1683–1685. doi:10.1016/j.jocn.2009.02.013
  • Lomen-Hoerth, C., Murphy, J., Langmore, S., Kramer, J. H., Olney, R. K., & Miller, B. (2003). Are amyotrophic lateral sclerosis patients cognitively normal? Neurology, 60, 1094–1097. doi:10.1212/01.WNL.0000055861.95202.8D
  • Mackenzie, I. R. A., Neumann, M., Baborie, A., Sampathu, D. M., Du Plessis, D., Jaros, E., … Lee, V. M. Y. (2011). A harmonized classification system for FTLD-TDP pathology. Acta Neuropathologica, 122, 111–113. doi:10.1007/s00401-011-0845-8
  • Magerova, H., Vyhnalek, M., Laczo, J., Andel, R., Rektorova, I., Kadlecova, A., … Hort, J. (2014). Odor identification in frontotemporal lobar degeneration subtypes. American Journal of Alzheimer’s Disease & Other Dementias, 29, 762–768. doi:10.1177/1533317514539033
  • 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. doi:10.1001/archneur.58.11.1803
  • Neary, D., Snowden, J., Gustafson, L., Passant, U., Stuss, D., Black, S., … Benson, D. (1998). Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria. Neurology, 51, 1546–1554. doi:10.1212/WNL.51.6.1546
  • Neary, D., Snowden, J. S., Mann, D. M., Northen, B., Goulding, P. J., & Macdermott, N. (1990). Frontal lobe dementia and motor neuron disease. Journal of Neurology, Neurosurgery, and Psychiatry, 53, 23–32. doi:10.1136/jnnp.53.1.23
  • Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Clark, C. M., McCluskey, L. F., … Lee, V. M. (2006). Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science, 314, 130–133. doi:10.1126/science.1134108
  • Peña-Casanova, J. (2005). Normalidad, semiología y patología neuropsicológicas. Programa integrado de exploración neuropsicológica. Barcelona: Masson S.A.
  • Pick, A. (1892). Über die Beziehungen der senilen Hirnatrophie zur Aphasie. Prager Medische Wochenschrift, 17, 165–167.
  • Quintana, M., Peña-Casanova, J., Sánchez-Benavides, G., Langohr, K., Manero, R. M., Aguilar, M., … Blesa, R. (2011). Spanish multicenter normative studies (neuronorma project): Norms for the abbreviated barcelona test. Archives of Clinical Neuropsychology, 26, 144–157. doi:10.1093/arclin/acq098
  • Rosen, H. J., Gorno-Tempini, M. L., Goldman, W. P., Perry, R. J., Schuff, N., Weiner, M., … Miller, B. L. (2002). Patterns of brain atrophy in frontotemporal dementia and semantic dementia. Neurology, 58, 198–208. doi:10.1212/WNL.58.2.198
  • Snowden, J., Goulding, P., & Neary, D. (1989). Semantic dementia: A form of circumscribed cerebral atrophy. Behavioural Neurology, 2, 167–182.
  • Spinelli, E. G., Mandelli, M. L., Miller, Z. A., Santos-Santos, M. A., Wilson, S. M., Agosta, F., … Gorno-Tempini, M. L. (2017). Typical and atypical pathology in primary progressive aphasia variants. Annals of Neurology, 81, 430–443. doi:10.1002/ana.24885
  • Spreen, O., & Strauss, E. (1998). Compendium of neuropsychological test (2nd ed.). New York, NY: Oxford University Press.
  • Tan, R. H., Shepherd, C. E., Kril, J. J., McCann, H., McGeachie, A., McGinley, C., … Halliday, G. M. (2013). Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43. Acta Neuropathologica Communications, 1, 1–9.
  • Ticozzi, N., LeClerc, A. L., van Blitterswijk, M., Keagle, P., McKenna-Yasek, D. M., Sapp, P. C., … Landers, J. E. (2011). Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiology of Aging, 32, 2096–2099. doi:10.1016/j.neurobiolaging.2009.11.018
  • Tulving, E. (1972). Episodic and semantic memory. Organization of memory. New York, NY: Academic Press.
  • Warraich, S. T., Yang, S., Nicholson, G. A., & Blair, I. P. (2010). TDP-43: A DNA and RNA binding protein with roles in neurodegenerative diseases. International Journal of Biochemistry & Cell Biology, 42, 1606–1609. doi:10.1016/j.biocel.2010.06.016
  • Wechsler, D. (1997a). Wechsler adult intelligence scale– third edition (WAIS- III). Administration and scoring manual (3rd ed.). San Antonio, TX: The Psychological Corporation.
  • Wechsler, D. (1997b). WMS- III. Administration and scoring manual. San Antonio, TX: The Psychological Corporation.
  • Yokoseki, A., Shiga, A., Tan, C.-F., Tagawa, A., Kaneko, H., Koyama, A., … Onodera, O. (2008). TDP-43 mutation in familial amyotrophic lateral sclerosis. Annals of Neurology, 63, 538–542. doi:10.1002/ana.21392

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