Advances in the Understanding of Frontotemporal Dementia

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cells of the Nervous System".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 5444

Special Issue Editors


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Guest Editor
UCL Institute of Neurology, London, UK
Interests: molecular mechanisms of neurodegeneration in Parkinson’s disease and fronto-temporal dementias

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Guest Editor
The Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK
Interests: neurodegenerative diseases; neurodegenerative movement disorders; frontotemporal lobar degeneration; Alzheimer; genetics; neuropathology

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Guest Editor
Queen Square Brain Bank, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK
Interests: brain pathology; neurodegenerative diseases; frontotemporal lobar degeneration; immunohistochemistry

Special Issue Information

Dear Colleagues,

Frontotemporal dementia (FTD) is an umbrella term that comprises a group of early onset neurodegenerative dementias characterised by progressive deficits in behaviour, executive function and language. As such there is no permanent cure for FTD with existing therapies focused on symptom control. A third of the FTD cases are of familial origin with mutations occurring in c9ORF72, progranulin and MAPT. Neuropathologically, abnormal cellular and nuclear inclusions are observed positive for tau, TDP-43 or FET proteins in brains of patients. Recent studies have highlighted molecular pathways associated with lysosomal dysfunction, synaptic loss, and neuroinflammation as putative culprits in disease pathogenesis in FTD.

Thus, this Special Issue will review the current understanding of FTD disease and aim to publish commentaries, original research articles and reviews relating to but not restricted to the following aspects:

  • Genetic and sporadic FTD
  • Cellular and animal models of FTD
  • Molecular pathways in FTD
  • Pathogenic heterogeneity
  • Fluid biomarkers
  • RNA splicing
  • Non-coding RNAs  
  • RNA binding proteins/stress granules/paraspeckles
  • Potential therapies for FTD

Dr. Rina Bandopadhyay
Prof. Dr. Tammaryn Lashley
Dr. Arianna Gatt
Guest Editors

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Keywords

  • Genetic and sporadic FTD
  • Cellular and animal models of FTD
  • Molecular pathways in FTD
  • Pathogenic heterogeneity
  • Fluid biomarkers
  • Cryptic exon splicing
  • Non-coding RNAs  
  • RNA binding proteins/stress granules/paraspeckles
  • Potential therapies for FTD

Published Papers (3 papers)

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Editorial

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2 pages, 173 KiB  
Editorial
Advances in the Understanding of Frontotemporal Dementia
by Rina Bandopadhyay, Ariana Gatt and Tammaryn Lashley
Cells 2023, 12(5), 781; https://doi.org/10.3390/cells12050781 - 1 Mar 2023
Cited by 1 | Viewed by 1517
Abstract
Frontotemporal dementia (FTD) encompasses a group of clinically, genetically and pathologically heterogeneous neurodegenerative disorders that mainly affect people under the age of 64 years [...] Full article
(This article belongs to the Special Issue Advances in the Understanding of Frontotemporal Dementia)

Research

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14 pages, 2860 KiB  
Article
Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain
by Megha Murthy, Patrizia Rizzu, Peter Heutink, Jonathan Mill, Tammaryn Lashley and Conceição Bettencourt
Cells 2023, 12(14), 1922; https://doi.org/10.3390/cells12141922 - 24 Jul 2023
Cited by 4 | Viewed by 1420
Abstract
Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations in MAPT, GRN, and C9orf72, recent work has [...] Read more.
Frontotemporal lobar degeneration (FTLD) includes a heterogeneous group of disorders pathologically characterized by the degeneration of the frontal and temporal lobes. In addition to major genetic contributors of FTLD such as mutations in MAPT, GRN, and C9orf72, recent work has identified several epigenetic modifications including significant differential DNA methylation in DLX1, and OTUD4 loci. As aging remains one of the major risk factors for FTLD, we investigated the presence of accelerated epigenetic aging in FTLD compared to controls. We calculated epigenetic age in both peripheral blood and brain tissues of multiple FTLD subtypes using several DNA methylation clocks, i.e., DNAmClockMulti, DNAmClockHannum, DNAmClockCortical, GrimAge, and PhenoAge, and determined age acceleration and its association with different cellular proportions and clinical traits. Significant epigenetic age acceleration was observed in the peripheral blood of both frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP) patients compared to controls with DNAmClockHannum, even after accounting for confounding factors. A similar trend was observed with both DNAmClockMulti and DNAmClockCortical in post-mortem frontal cortex tissue of PSP patients and in FTLD cases harboring GRN mutations. Our findings support that increased epigenetic age acceleration in the peripheral blood could be an indicator for PSP and to a smaller extent, FTD. Full article
(This article belongs to the Special Issue Advances in the Understanding of Frontotemporal Dementia)
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Review

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23 pages, 873 KiB  
Review
HnRNP Pathologies in Frontotemporal Lobar Degeneration
by Xinwa Jiang, Ariana Gatt and Tammaryn Lashley
Cells 2023, 12(12), 1633; https://doi.org/10.3390/cells12121633 - 15 Jun 2023
Viewed by 1900
Abstract
Frontotemporal dementia (FTD) is the second most common form of young-onset (<65 years) dementia. Clinically, it primarily manifests as a disorder of behavioural, executive, and/or language functions. Pathologically, frontotemporal lobar degeneration (FTLD) is the predominant cause of FTD. FTLD is a proteinopathy, and [...] Read more.
Frontotemporal dementia (FTD) is the second most common form of young-onset (<65 years) dementia. Clinically, it primarily manifests as a disorder of behavioural, executive, and/or language functions. Pathologically, frontotemporal lobar degeneration (FTLD) is the predominant cause of FTD. FTLD is a proteinopathy, and the main pathological proteins identified so far are tau, TAR DNA-binding protein 43 (TDP-43), and fused in sarcoma (FUS). As TDP-43 and FUS are members of the heterogeneous ribonucleic acid protein (hnRNP) family, many studies in recent years have expanded the research on the relationship between other hnRNPs and FTLD pathology. Indeed, these studies provide evidence for an association between hnRNP abnormalities and FTLD. In particular, several studies have shown that multiple hnRNPs may exhibit nuclear depletion and cytoplasmic mislocalisation within neurons in FTLD cases. However, due to the diversity and complex association of hnRNPs, most studies are still at the stage of histological discovery of different hnRNP abnormalities in FTLD. We herein review the latest studies relating hnRNPs to FTLD. Together, these studies outline an important role of multiple hnRNPs in the pathogenesis of FTLD and suggest that future research into FTLD should include the whole spectrum of this protein family. Full article
(This article belongs to the Special Issue Advances in the Understanding of Frontotemporal Dementia)
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