The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD
Cell ReportsSummary: GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown.
Dilara O. Halim +9 more
doaj +1 more source
Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov +2 more
wiley +1 more source
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
Human Genome Variation, 2023 The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases.
Shinsuke Hamada +6 more
doaj +1 more source
Frontotemporal dementia – a catastrophic form of dementia praecox
European Psychiatry, 2023 Introduction Frontotemporal dementia (FTD) is a devastating neurodegenerative condition with several clinical presentations for which there is currently no effective treatment.
A. R. Costa, S. Jesus, C. Vicente
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Human and animal models for translational research on neurodegeneration: Challenges and opportunities from South America [PDF]
, 2018 Facing the alarming growth of dementia and neurodegenerative conditions has become a critical priority across the globe (Alzheimer´s Disease International, 2009;Lancet, 2015;Shah et al., 2016;Parra et al., 2018).
Cogram, Patricia +4 more
core +3 more sources
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Review of Prognostic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Neurologijos seminaraiFrontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases with distinc clinical presentation, but interconnected with each other.
Donata Pakeltytė, Birutė Burnytė
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Olfactory impairment in frontotemporal dementia: A systematic review and meta-analysis
Dementia & Neuropsychologia, 2019 . Frontotemporal dementia (FTD) presents clinically in three variants: one behavioral and two with progressive primary aphasia - non-fluent/agrammatic and semantic. Defined by the degenerative process and cerebral atrophy, olfactory dysfunction occurs in
Maren de Moraes e Silva +7 more
doaj +1 more source
Pronounced impairment of activities of daily living in posterior cortical atrophy [PDF]
, 2020 Introduction : The impact of several dementia syndromes on activities of daily living (ADLs) has been well documented, but no study has yet investigated functional ability in posterior cortical atrophy (PCA).
Ahmed, Samrah +5 more
core +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source