Neural mechanisms of psychosis vulnerability and perceptual abnormalities in the ALS‐FTD spectrum
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51363
Abstract: The aims of this study were to (i) explore psychotic experiences across the entire amyotrophic lateral sclerosis‐frontotemporal dementia (ALS‐FTD) spectrum from a clinical and genetic perspective, (ii) determine the rate of abnormal perceptual experiences across… read more here.
Keywords: ftd spectrum; neural mechanisms; als ftd; psychosis vulnerability ... See more keywords
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica"
DOI: 10.1007/s00401-020-02214-x
Abstract: A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved manner. Proposed mechanisms involve gain-of-functions, comprising RNA and protein toxicity, and… read more here.
Keywords: function; als ftd; c9orf72 loss; loss function ... See more keywords
Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study
Sign Up to like & getrecommendations! Published in 2018 at "Brain Imaging and Behavior"
DOI: 10.1007/s11682-018-9837-9
Abstract: Frontotemporal dementia (FTD) phenotypes have distinctive and well-established cortical signatures, but their subcortical grey matter profiles are poorly characterised. The comprehensive characterisation of striatal and thalamic pathology along the ALS-FTD spectrum is particularly timely, as… read more here.
Keywords: grey matter; subcortical grey; pathology; ftd patients ... See more keywords
Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD
Sign Up to like & getrecommendations! Published in 2018 at "Brain Research"
DOI: 10.1016/j.brainres.2018.02.011
Abstract: Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is… read more here.
Keywords: dysfunction; disease; c9orf72; als ftd ... See more keywords
S56. Comparing brain structural and perfusion MRI changes across ALS-FTD continuum
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2018.04.416
Abstract: Introduction Clinical, genetic, and pathological findings suggest a close relationship between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This study is aim to compare brain structural and perfusion MRI changes across the spectrum between… read more here.
Keywords: als ftd; perfusion mri; brain; structural perfusion ... See more keywords
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex
Sign Up to like & getrecommendations! Published in 2022 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2022.105673
Abstract: BACKGROUND Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the loss of upper and lower motor neurons in the brain and spinal cord. ALS and frontotemporal dementia (FTD) are overlapping diseases with… read more here.
Keywords: scfcyclin complex; ubiquitylation; tdp; als ftd ... See more keywords
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.04.023
Abstract: Mutations of the human valosin-containing protein, p97 (VCP) and Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex genes cause motor neuron and cognitive impairment disorders. Here, we analyzed a cohort of German patients with sporadic… read more here.
Keywords: analysis; complex genes; wash complex; wash ... See more keywords
NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients
Sign Up to like & getrecommendations! Published in 2018 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.08.021
Abstract: We evaluated the genetic impact of the amyotrophic lateral sclerosis (ALS) risk gene never in mitosis gene a-related kinase 1 (NEK1) in a Belgian cohort of 278 patients with ALS (n = 245) or ALS with… read more here.
Keywords: belgian cohort; nek1 genetic; als ftd; genetic variability ... See more keywords
Small-Molecule Modulation of TDP-43 Recruitment to Stress Granules Prevents Persistent TDP-43 Accumulation in ALS/FTD
Sign Up to like & getrecommendations! Published in 2019 at "Neuron"
DOI: 10.1016/j.neuron.2019.05.048
Abstract: Stress granules (SGs) form during cellular stress and are implicated in neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). To yield insights into the role of SGs in pathophysiology, we performed a… read more here.
Keywords: accumulation; stress granules; small molecule; recruitment ... See more keywords
ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS
Sign Up to like & getrecommendations! Published in 2020 at "Neuron"
DOI: 10.1016/j.neuron.2020.04.006
Abstract: Jone López-Erauskin, Takahiro Tadokoro, Michael W. Baughn, Brian Myers, Melissa McAlonis-Downes, Carlos Chillon-Marinas, JoshuaN. Asiaban, Jonathan Artates, Anh T. Bui, Anne P. Vetto, Sandra K. Lee, Ai Vy Le, Ying Sun, Mélanie Jambeau, Jihane Boubaker,… read more here.
Keywords: fus suppresses; fus; mutation fus; linked mutation ... See more keywords
C9orf72 in myeloid cells suppresses STING-induced inflammation
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-2625-x
Abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative disorders that overlap in their clinical presentation, pathology and genetic origin. Autoimmune disorders are also overrepresented in both ALS and FTD, but this remains an… read more here.
Keywords: c9orf72 myeloid; myeloid cells; inflammation; interferon ... See more keywords