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Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review

BACKGROUND: In most cases, the onset of frontotemporal dementia (FTD) occurs between the ages of 45 and 65 years. However, some patients experience an extremely early disease onset. OBJECTIVE: To investigate the clinical, genetic, and pathological features of extremely early-onset FTD. METHODS: We c...

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Autores principales: Chu, Min, Liu, Li, Nan, Haitian, Jiang, Deming, Wang, Yihao, Rosa-Neto, Pedro, Piao, Yueshan, Wu, Liyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741737/
https://www.ncbi.nlm.nih.gov/pubmed/36214000
http://dx.doi.org/10.3233/JAD-220679
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author Chu, Min
Liu, Li
Nan, Haitian
Jiang, Deming
Wang, Yihao
Rosa-Neto, Pedro
Piao, Yueshan
Wu, Liyong
author_facet Chu, Min
Liu, Li
Nan, Haitian
Jiang, Deming
Wang, Yihao
Rosa-Neto, Pedro
Piao, Yueshan
Wu, Liyong
author_sort Chu, Min
collection PubMed
description BACKGROUND: In most cases, the onset of frontotemporal dementia (FTD) occurs between the ages of 45 and 65 years. However, some patients experience an extremely early disease onset. OBJECTIVE: To investigate the clinical, genetic, and pathological features of extremely early-onset FTD. METHODS: We conducted a comprehensive clinical, genetic, and neuropathological analysis of a 25-year-old patient experiencing the onset of behavioral variant frontotemporal dementia (bvFTD). In addition, we conducted a literature review and summarized the clinical, genetic, and pathological features of patients with FTD with onset age≤25 years. RESULTS: The patient was diagnosed with bvFTD; however, there was no family history of FTD, no positive genetic test results and no deposition of TDP43, tau, ubiquitin, and synuclein in the brain. Literature screening identified 18 patients with onset age ≤25 years with FTD. The youngest patient was 14 years of age. Most patients (8/14) had a positive family history. The most common clinical phenotype was the behavioral variant (12/14). Genetic results were reported for 11 patients; the most common pathogenic gene was MAPT (10/12), with four cases of G389 R, two cases of P301 S, one case of G335 S, one case of G335A, one case of G335 V, and one case of L315 R. Pathological results were reported for 13 patients; the most common pathological subtype was tau (8/13). CONCLUSION: FTD can start at an extremely early age. The most common phenotype of extremely early onset FTD was the behavioral variant, the most common pathogenic gene was MAPT, and the most common neuropathological type was tau.
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spelling pubmed-97417372023-01-04 Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review Chu, Min Liu, Li Nan, Haitian Jiang, Deming Wang, Yihao Rosa-Neto, Pedro Piao, Yueshan Wu, Liyong J Alzheimers Dis Research Article BACKGROUND: In most cases, the onset of frontotemporal dementia (FTD) occurs between the ages of 45 and 65 years. However, some patients experience an extremely early disease onset. OBJECTIVE: To investigate the clinical, genetic, and pathological features of extremely early-onset FTD. METHODS: We conducted a comprehensive clinical, genetic, and neuropathological analysis of a 25-year-old patient experiencing the onset of behavioral variant frontotemporal dementia (bvFTD). In addition, we conducted a literature review and summarized the clinical, genetic, and pathological features of patients with FTD with onset age≤25 years. RESULTS: The patient was diagnosed with bvFTD; however, there was no family history of FTD, no positive genetic test results and no deposition of TDP43, tau, ubiquitin, and synuclein in the brain. Literature screening identified 18 patients with onset age ≤25 years with FTD. The youngest patient was 14 years of age. Most patients (8/14) had a positive family history. The most common clinical phenotype was the behavioral variant (12/14). Genetic results were reported for 11 patients; the most common pathogenic gene was MAPT (10/12), with four cases of G389 R, two cases of P301 S, one case of G335 S, one case of G335A, one case of G335 V, and one case of L315 R. Pathological results were reported for 13 patients; the most common pathological subtype was tau (8/13). CONCLUSION: FTD can start at an extremely early age. The most common phenotype of extremely early onset FTD was the behavioral variant, the most common pathogenic gene was MAPT, and the most common neuropathological type was tau. IOS Press 2022-11-22 /pmc/articles/PMC9741737/ /pubmed/36214000 http://dx.doi.org/10.3233/JAD-220679 Text en © 2022 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Chu, Min
Liu, Li
Nan, Haitian
Jiang, Deming
Wang, Yihao
Rosa-Neto, Pedro
Piao, Yueshan
Wu, Liyong
Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title_full Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title_fullStr Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title_full_unstemmed Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title_short Extremely Early-Onset Frontotemporal Dementia: A Case Report and Literature Review
title_sort extremely early-onset frontotemporal dementia: a case report and literature review
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9741737/
https://www.ncbi.nlm.nih.gov/pubmed/36214000
http://dx.doi.org/10.3233/JAD-220679
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