Phenocopy syndrome of frontotemporal dementia
Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phF...
Ausführliche Beschreibung
Autor*in: |
D. Martins [verfasserIn] R. Faria [verfasserIn] M. Pinho [verfasserIn] S. Rodrigues [verfasserIn] |
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Englisch |
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2021 |
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Übergeordnetes Werk: |
In: European Psychiatry - Cambridge University Press, 2020, 64(2021), Seite S420-S421 |
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Übergeordnetes Werk: |
volume:64 ; year:2021 ; pages:S420-S421 |
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DOI / URN: |
10.1192/j.eurpsy.2021.1123 |
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Katalog-ID: |
DOAJ094606994 |
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520 | |a Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. | ||
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10.1192/j.eurpsy.2021.1123 doi (DE-627)DOAJ094606994 (DE-599)DOAJ5116006aedaf46e7aba105da0747e837 DE-627 ger DE-627 rakwb eng RC435-571 D. Martins verfasserin aut Phenocopy syndrome of frontotemporal dementia 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. frontotemporal dementia Phenocopy syndrome FTD phenocopy Psychiatry R. Faria verfasserin aut M. Pinho verfasserin aut S. Rodrigues verfasserin aut In European Psychiatry Cambridge University Press, 2020 64(2021), Seite S420-S421 (DE-627)320445070 (DE-600)2005377-0 17783585 nnns volume:64 year:2021 pages:S420-S421 https://doi.org/10.1192/j.eurpsy.2021.1123 kostenfrei https://doaj.org/article/5116006aedaf46e7aba105da0747e837 kostenfrei https://www.cambridge.org/core/product/identifier/S0924933821011238/type/journal_article kostenfrei https://doaj.org/toc/0924-9338 Journal toc kostenfrei https://doaj.org/toc/1778-3585 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_217 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2014 GBV_ILN_2110 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2021 S420-S421 |
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10.1192/j.eurpsy.2021.1123 doi (DE-627)DOAJ094606994 (DE-599)DOAJ5116006aedaf46e7aba105da0747e837 DE-627 ger DE-627 rakwb eng RC435-571 D. Martins verfasserin aut Phenocopy syndrome of frontotemporal dementia 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. frontotemporal dementia Phenocopy syndrome FTD phenocopy Psychiatry R. Faria verfasserin aut M. Pinho verfasserin aut S. Rodrigues verfasserin aut In European Psychiatry Cambridge University Press, 2020 64(2021), Seite S420-S421 (DE-627)320445070 (DE-600)2005377-0 17783585 nnns volume:64 year:2021 pages:S420-S421 https://doi.org/10.1192/j.eurpsy.2021.1123 kostenfrei https://doaj.org/article/5116006aedaf46e7aba105da0747e837 kostenfrei https://www.cambridge.org/core/product/identifier/S0924933821011238/type/journal_article kostenfrei https://doaj.org/toc/0924-9338 Journal toc kostenfrei https://doaj.org/toc/1778-3585 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_217 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2014 GBV_ILN_2110 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2021 S420-S421 |
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10.1192/j.eurpsy.2021.1123 doi (DE-627)DOAJ094606994 (DE-599)DOAJ5116006aedaf46e7aba105da0747e837 DE-627 ger DE-627 rakwb eng RC435-571 D. Martins verfasserin aut Phenocopy syndrome of frontotemporal dementia 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. frontotemporal dementia Phenocopy syndrome FTD phenocopy Psychiatry R. Faria verfasserin aut M. Pinho verfasserin aut S. Rodrigues verfasserin aut In European Psychiatry Cambridge University Press, 2020 64(2021), Seite S420-S421 (DE-627)320445070 (DE-600)2005377-0 17783585 nnns volume:64 year:2021 pages:S420-S421 https://doi.org/10.1192/j.eurpsy.2021.1123 kostenfrei https://doaj.org/article/5116006aedaf46e7aba105da0747e837 kostenfrei https://www.cambridge.org/core/product/identifier/S0924933821011238/type/journal_article kostenfrei https://doaj.org/toc/0924-9338 Journal toc kostenfrei https://doaj.org/toc/1778-3585 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_217 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2014 GBV_ILN_2110 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2021 S420-S421 |
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10.1192/j.eurpsy.2021.1123 doi (DE-627)DOAJ094606994 (DE-599)DOAJ5116006aedaf46e7aba105da0747e837 DE-627 ger DE-627 rakwb eng RC435-571 D. Martins verfasserin aut Phenocopy syndrome of frontotemporal dementia 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. frontotemporal dementia Phenocopy syndrome FTD phenocopy Psychiatry R. Faria verfasserin aut M. Pinho verfasserin aut S. Rodrigues verfasserin aut In European Psychiatry Cambridge University Press, 2020 64(2021), Seite S420-S421 (DE-627)320445070 (DE-600)2005377-0 17783585 nnns volume:64 year:2021 pages:S420-S421 https://doi.org/10.1192/j.eurpsy.2021.1123 kostenfrei https://doaj.org/article/5116006aedaf46e7aba105da0747e837 kostenfrei https://www.cambridge.org/core/product/identifier/S0924933821011238/type/journal_article kostenfrei https://doaj.org/toc/0924-9338 Journal toc kostenfrei https://doaj.org/toc/1778-3585 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_217 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2014 GBV_ILN_2110 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2021 S420-S421 |
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10.1192/j.eurpsy.2021.1123 doi (DE-627)DOAJ094606994 (DE-599)DOAJ5116006aedaf46e7aba105da0747e837 DE-627 ger DE-627 rakwb eng RC435-571 D. Martins verfasserin aut Phenocopy syndrome of frontotemporal dementia 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. frontotemporal dementia Phenocopy syndrome FTD phenocopy Psychiatry R. Faria verfasserin aut M. Pinho verfasserin aut S. Rodrigues verfasserin aut In European Psychiatry Cambridge University Press, 2020 64(2021), Seite S420-S421 (DE-627)320445070 (DE-600)2005377-0 17783585 nnns volume:64 year:2021 pages:S420-S421 https://doi.org/10.1192/j.eurpsy.2021.1123 kostenfrei https://doaj.org/article/5116006aedaf46e7aba105da0747e837 kostenfrei https://www.cambridge.org/core/product/identifier/S0924933821011238/type/journal_article kostenfrei https://doaj.org/toc/0924-9338 Journal toc kostenfrei https://doaj.org/toc/1778-3585 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_217 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_374 GBV_ILN_602 GBV_ILN_636 GBV_ILN_2004 GBV_ILN_2014 GBV_ILN_2110 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2021 S420-S421 |
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Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. |
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Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. |
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Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment. |
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Martins</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Phenocopy syndrome of frontotemporal dementia</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Introduction Frontotemporal dementia (FTD) is a group of neurodegenerative disorders characterized by behavioral or language changes with progressive executive dysfunction. It´s subdivided into two variants, the behavioral and language variants. The phenocopy syndrome of frontotemporal dementia (phFTD) mimics the behavioral variant, but doesn´t show frontotemporal atrophy in neuroimaging and doesn´t progress to frank dementia over the years. Objectives Presenting a review of phenocopy syndrome of frontotemporal dementia. Methods Search on Pubmed® and Medscape® databases with the following keywords: “frontotemporal dementia and phenocopy” or “FTD phenocopy”. We focused on data from systematic reviews and meta-analyzes published in the last five years. The articles were selected by the authors according to their relevance. Results Mutations in GRN and MAPT gens and genetic expansion of C9orf72 have been identified. The discovery of the C9orf72 expansion in psychiatric disorders (psychosis, bipolar disorder or depressive disorder), for some authors, represents that phFTD is a psychiatric pathology. In fact, there’s a higher frequency of psychiatric and psychological symptoms in phFTD compared to the variants of FTD. Usually are male patients who don´t have significant cognitive deficits, with preservation of executive functions and episodic memory. Until now, there are no definitive biomarkers of the disease. The prognosis is more benigne, unlike FTD, which has an average survival of 3 years since diagnosis. Conclusions phFTD is a clinical and scientific challenge. The neurobiological bases remain unknown, requiring further studies in this field. The identification of markers that can differentiate patients with typical FTD and phFTD can facilitate prognosis orientation and pharmacological an non-pharmacological treatment.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">frontotemporal dementia</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Phenocopy syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">FTD phenocopy</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Psychiatry</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">R. Faria</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">M. Pinho</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">S. 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