Clinical spectrum of frontotemporal dementia: schizophrenia-like symptoms and amyotrophic lateral sclerosis (family case study)

Abstract

Frontotemporal dementia is a heterogeneous pathology with various clinical, histological, and genetic variants. The behavioral variant of frontotemporal dementia (bvFTD) in some cases presents differential diagnostic difficulties when distinguishing from primary mental disorders. The article provides an observation of patient K., who was observed at the initial stage of the disease with a diagnosis of schizophrenia. The comparison of psychopathological and behavioral symptoms with the presence of a family history of amyotrophic lateral sclerosis (ALS) served as a turning point to a different interpretation of the pathology and recognition and confirmation of the “definite diagnosis” — bvFTD.

Keywords

frontotemporal dementia / amyotrophic lateral sclerosis / schizophrenia / psychopathology

References

[1] Neumann M, MacKenzie IRA. Review: Neuropathology of non-tau frontotemporal lobar degeneration. Neuropathol Appl Neurobiol. 2019;45:19–40. doi: 10.1111/nan.12526

[2] Neumann M., MacKenzie I. Review: Neuropathology of non-tau frontotemporal lobar degeneration // Neuropathol. Appl. Neurobiol. 2019. Vol. 45. Р. 19–40. doi: 10.1111/nan.12526

[3] Caporozzo R, Sassi C, Hammer M et al Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimers Dement. 2017;13(8):858–869. doi: 10.1016/j.jalz.2017.01.011

[4] Caporozzo R., Sassi C., Hammer M. et al. Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy // Alzheimers Dement. 2017. Vol. 13. N. 8. Р. 858–869. doi: 10.1016/j.jalz.2017.01.011

[5] Wood E, Falcone D, Suh E et al. Development and validation of pedigree classification criteria for frontotemporal lobar degeneration. JAMA Neurol. 2013;70:1411–1417.

[6] Wood E., Falcone D., Suh E. et al. Development and validation of pedigree classification criteria for frontotemporal lobar degeneration // JAMA Neurol. 2013. Vol. 70. Р. 1411–1417.

[7] Fostinelli S, Ciani M, Zanardini R et al. The heritability of frontotemporal lobar degeneration: Validation of pedigree classification criteria in a Northern Italy cohort. J Alzheimers Dis. 2018;61:753–760. doi: 10.3233/JAD-170661

[8] Fostinelli S., Ciani M., Zanardini R. et al. The heritability of frontotemporal lobar degeneration: Validation of pedigree classification criteria in a Northern Italy cohort // J. Alzheimers Dis. 2018. Vol. 61. Р. 753–760. doi: 10.3233/JAD-170661

[9] Wagner M, Lorenz G, Volk A et al. Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular Psychiatry. 2021;26:5824–5832. doi: 10.1038/s41380-021-01271-2

[10] Wagner M., Lorenz G., Volk A. et al. Clinico-genetic findings in 509 frontotemporal dementia patients // Molecular Psychiatry. 2021. Vol. 26. Р. 5824–5832. doi: 10.1038/s41380-021-01271-2

[11] Ciani M, Bonvicini C, Scassellati C et.al. The missing heritability of sporadic frontotemporal dementia: New insights from rare variants in neurodegenerative candidate genes. Int J Mol Sci. 2019;20(16):3903. doi: 10.3390/ijms20163903

[12] Ciani M., Bonvicini C., Scassellati C. et.al. The missing heritability of sporadic frontotemporal dementia: New insights from rare variants in neurodegenerative candidate genes // Int. J. Mol. Sci. 2019. Vol. 20. N. 16. Р. 3903. doi: 10.3390/ijms20163903

[13] Origone P, Geroldi A, Lamp M et al. Role of MAPT in pure motor neuron disease: Report of a recurrent mutation in Italian patients. Neurodegener Dis. 2018;18:310–314. doi: 10.1159/000497820

[14] Origone P., Geroldi A., Lamp M. et al. Role of MAPT in pure motor neuron disease: Report of a recurrent mutation in Italian patients // Neurodegener. Dis. 2018. Vol. 18. Р. 310–314. doi: 10.1159/000497820

[15] Maeda S, Sato Y, Takashima A. Frontotemporal dementia with Parkinsonism linked to chromosome-17 mutations enhance tau oligomer formation. Neurobiol. Aging. 2018;69:26–32. doi: 10.1111/j.1750-3639.1998.tb00162.x

[16] Maeda S., Sato Y., Takashima A. Frontotemporal dementia with Parkinsonism linked to chromosome-17 mutations enhance tau oligomer formation // Neurobiol. Aging. 2018. Vol. 69. Р. 26–32. doi: 10.1111/j.1750-3639.1998.tb00162.x

[17] Le Ber I, van der Zee J, Hannequin D et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum. Mutat. 2007;9:846–855. doi: 10.1002/humu.20520

[18] Le Ber I., van der Zee J., Hannequin D. et al. Progranulin null mutations in both sporadic and familial frontotemporal dementia // Hum. Mutat. 2007. Vol. 9. Р. 846–855. doi: 10.1002/humu.20520

[19] Benussi L, Binetti G, Sina E et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging. 2008;29:427–435. doi: 10.1016/j.neurobiolaging.2006.10.028

[20] Benussi L., Binetti G., Sina E. et al. A novel deletion in progranulin gene is associated with FTDP-17 and CBS // Neurobiol. Aging. 2008. Vol. 29. Р. 427–435. doi: 10.1016/j.neurobiolaging.2006.10.028

[21] Marogianni C, Rikos D, Provatas A et al. The role of C9orf72 in neurodegenerative disorders: A systematic review, an updated meta-analysis, and the creation of an online database. Neurobiol Aging. 2019;24:238.e25–238.e34. doi: 10.1016/j.neurobiolaging.2019.04.012

[22] Marogianni C., Rikos D., Provatas A. et al. The role of C9orf72 in neurodegenerative disorders: A systematic review, an updated meta-analysis, and the creation of an online database // Neurobiol. Aging. 2019. Vol. 24. Р. 238.e25–238.e34. doi: 10.1016/j.neurobiolaging.2019.04.012

[23] Gorno-Tempini M, Hillis A, Weintraub S et al. Classification of primary progressive aphasia and its variants. Neurology. 2011;76:1006–1014. doi: 10.1212/WNL.0b013e31821103e6

[24] Gorno-Tempini M., Hillis A., Weintraub S. et al. Classification of primary progressive aphasia and its variants // Neurology. 2011. Vol. 76. Р. 1006–1014. doi: 10.1212/WNL.0b013e31821103e6

[25] Lee S. Frontotemporal dementia: Clinical features and diagnosis https://www.uptodate.com/contents/frontotemporal-dementia-clinical-features-and-diagnosis/print 1/29 (access date: 07.01.2024).

[26] Lee S. Frontotemporal dementia: Clinical features and diagnosis. https://www.uptodate.com/contents/frontotemporal-dementia-clinical-features-and-diagnosis/print 1/29 (access date: 07.01.2024).

[27] Ducharme S, Dols A, Laforce R et al. Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders. Brain. 2020;143(6):1632–1650. doi: 10.1093/brain/awaa018

[28] Ducharme S., Dols A., Laforce R. et al. Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders // Brain. 2020. Vol. 143. N. 6. Р. 1632–1650. doi: 10.1093/brain/awaa018

[29] Galimberti D, Dell'Osso B, Altamura A et al. Psychiatric symptoms in frontotemporal dementia: Epidemiology, phenotypes, and differential diagnosis. Biol Psychiatry. 2015;5;78(10):684–692. doi: 10.1016/j.biopsych.2015.03.028

[30] Galimberti D., Dell'Osso B., Altamura A. et al. Psychiatric symptoms in frontotemporal dementia: Epidemiology, phenotypes, and differential diagnosis // Biol. Psychiatry. 2015. Vol. 5. N. 78 (10). Р. 684–692. doi: 10.1016/j.biopsych.2015.03.028

[31] Nathani M, Jaleel V, Turner A et al. When you hear hoofbeats, think horses and zebras: The importance of a wide differential when it comes to frontotemporal lobar egeneration. Asian J Psychiatr. 2020;47:101875. doi: 10.1016/j.ajp.2019.101875

[32] Nathani M., Jaleel V., Turner A. et al. When you hear hoofbeats, think horses and zebras: The importance of a wide differential when it comes to frontotemporal lobar egeneration // Asian J. Psychiatr. 2020. Vol. 47. Р. 101875. doi: 10.1016/j.ajp.2019.101875

[33] Reischle E, Sturm K, Schuierer G, Ibach B. A case of schizophreniform disorder in frontotemporal dementia (FTD). Psychiatr Prax. 2003;30(2):78–82.

[34] Reischle E., Sturm K., Schuierer G., Ibach B. A case of schizophreniform disorder in frontotemporal dementia (FTD) // Psychiatr. Prax. 2003. Vol. 30. N. 2. Р. 78–82.

[35] Shanker S, Mukku R, Jagtap N et al. Psychotic symptoms in frontotemporal dementia with right frontotemporal atrophy. Asian J Psychiatr. 2020;52:102040. doi: 0.1016/j.ajp.2020.102040

[36] Shanker S., Mukku R., Jagtap N. et al. Psychotic symptoms in frontotemporal dementia with right frontotemporal atrophy // Asian J. Psychiatr. 2020. Vol. 52. Р. 102040. doi: 0.1016/j.ajp.2020.102040.

[37] Gossink F, Vijverberg E, Krudop W et al. Psychosis in behavioral variant frontotemporal dementia. Neuropsychiatr Dis Treat. 2017;13:1099–1106. doi: 10.2147/NDT.S127863

[38] Gossink F., Vijverberg E., Krudop W. et al. Psychosis in behavioral variant frontotemporal dementia // Neuropsychiatr. Dis. Treat. 2017. Vol. 13. Р. 1099–1106. doi: 10.2147/NDT.S127863

[39] Schwertner E, Pereira J, Xu H et al. Behavioral and psychological symptoms of dementia in different dementia disorders: A large-scale study of 10,000 individuals. J Alzheimers Dis. 2022;87(3):1307–1318. doi: 10.3233/JAD-215198

[40] Schwertner E., Pereira J., Xu H. et al. Behavioral and psychological symptoms of dementia in different dementia disorders: A large-scale study of 10,000 individuals // J. Alzheimers Dis. 2022. Vol. 87. N. 3. Р. 1307–1318. doi: 10.3233/JAD-215198

[41] Rosen H, Allison S, Schauer G et al. Neuroanatomical correlates of behavioural disorders in dementia. Brain. 2005;128:2612. doi: 10.1093/brain/awh628

[42] Rosen H., Allison S., Schauer G. et al. Neuroanatomical correlates of behavioural disorders in dementia // Brain. 2005. Vol. 128. Р. 2612 // Journal of Alzheimer's Disease. doi: 10.1093/brain/awh628

[43] Ducharme S, Pearl-Dowler L, Gossink F et al. The frontotemporal dementia versus primary psychiatric disorder (FTD versus PPD) checklist: A bedside clinical tool to identify behavioral variant FTD in patients with late-onset behavioral changes. Journal of Alzheimer’s Disease: JAD. 2019;67:113–124. doi: 10.3233/JAD-180839

[44] Ducharme S., Pearl-Dowler L., Gossink F. et al. The frontotemporal dementia versus primary psychiatric disorder (FTD versus PPD) checklist: A bedside clinical tool to identify behavioral variant FTD in patients with late-onset behavioral changes // Journal of Alzheimer’s disease: JAD. 2019. Vol. 67. Р. 113–124. doi: 10.3233/JAD-180839

[45] Koutsouleris N, Pantelis C, Velakoulis D et al. Exploring links between psychosis and frontotemporal dementia using multimodal machine learning dementia praecox revisited. JAMA Psychiatry. 2022;79(9):907–919. doi: 10.1001/jamapsychiatry.2022.2075

[46] Koutsouleris N., Pantelis C., Velakoulis D. et al. Exploring links between psychosis and frontotemporal dementia using multimodal machine learning dementia praecox revisited // JAMA Psychiatry. 2022. Vol. 79. N. 9. P. 907–919. doi: 10.1001/jamapsychiatry.2022.2075

[47] Pressman P, Matlock D, Ducharme S. Distinguishing behavioral variant frontotemporal dementia from primary psychiatric disorders: A review of recently published consensus recommendations from the neuropsychiatric international consortium for frontotemporal dementia. J Neuropsychiatry Clin Neurosci. 2021;33(2):152–156. doi: 10.1176/appi.neuropsych.20090238

[48] Pressman P., Matlock D., Ducharme S. Distinguishing behavioral variant frontotemporal dementia from primary psychiatric disorders: A review of recently published consensus recommendations from the neuropsychiatric international consortium for frontotemporal dementia // J. Neuropsychiatry Clin. Neurosci. 2021. Vol. 33. N. 2. P. 152–156. doi: 10.1176/appi.neuropsych.20090238

[49] Rascovsky K, Grossman M. Clinical diagnostic criteria and classification controversies in frontotemporal lobar degeneration. Int Rev Psychiatry. 2013;25(2):145–158. doi: 10.3109/09540261.2013.763341

[50] Rascovsky K., Grossman M. Clinical diagnostic criteria and classification controversies in frontotemporal lobar degeneration // Int. Rev. Psychiatry. 2013. Vol. 25. N. 2. Р. 145–158. doi: 10.3109/09540261.2013.763341

[51] Knopman D, Boeve B, Parisi J et al. Antemortem diagnosis of frontotemporal lobar degeneration. Ann Neurol. 2005;57:480. doi: 10.1002/ana.20425.

[52] Knopman D., Boeve B., Parisi J. et al. Antemortem diagnosis of frontotemporal lobar degeneration // Ann. Neurol. 2005. Vol. 57. Р. 480. doi: 10.1002/ana.20425.

[53] Rascovsky K, Hodges J, Knopman D et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456. doi: 10.1093/brain/awr179

[54] Rascovsky K., Hodges J., Knopman D. et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia // Brain. 2011. Vol. 134. Р. 2456. doi: 10.1093/brain/awr179

[55] Hornberger M, Piguet O, Graham J et al. How preserved is episodic memory in behavioral variant frontotemporal dementia? Neurology. 2010;74:472. doi: 10.1212/WNL.0b013e3181cef85d

[56] Hornberger M., Piguet O., Graham J. et al. How preserved is episodic memory in behavioral variant frontotemporal dementia? // Neurology. 2010. Vol. 74. Р. 472. doi: 10.1212/WNL.0b013e3181cef85d

[57] Devenney E, Bartley L, Hoon C et al. Progression in behavioral variant frontotemporal dementia: A longitudinal study. JAMA Neurol. 2015;72:1501. doi: 10.1001/jamaneurol.2015.2061

[58] Devenney E., Bartley L., Hoon C. et al. Progression in behavioral variant frontotemporal dementia: A longitudinal study // JAMA Neurol. 2015. Vol. 72. Р. 1501. doi: 10.1001/jamaneurol.2015.2061

[59] Krudop W, Dols A, Kerssens C et al. The pitfall of behavioral variant frontotemporal dementia mimics despite multidisciplinary application of the FTDC criteria. Journal of Alzheimer’s Disease: JAD. 2017;60:959–975. doi: 10.3233/JAD-170608

[60] Krudop W., Dols A., Kerssens C. et al. The pitfall of behavioral variant frontotemporal dementia mimics despite multidisciplinary application of the FTDC criteria // Journal of Alzheimer’s disease: JAD. 2017. Vol. 60. P. 959–975. doi: 10.3233/JAD-170608.

[61] Piguet O, Hornberger M, Mioshi E, Hodges J. Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management. Lancet Neurol. 2011;10:162. doi: 10.1016/S1474-4422(10)70299-4

[62] Piguet O., Hornberger M., Mioshi E., Hodges J. Behavioural-variant frontotemporal dementia: Diagnosis, clinical staging, and management // Lancet Neurol. 2011. Vol. 10. P. 162. doi: 10.1016/S1474-4422(10)70299-4

[63] Ji A, Zhang X, Chen W, Huang W. Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum. J Med Genet. 2017;54:145–154. doi: 10.1136/jmedgenet-2016-104271

[64] Ji A., Zhang X., Chen W., Huang W. Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum // J. Med. Genet. 2017. Vol. 54 . P. 145–54. doi: 10.1136/jmedgenet-2016-104271

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