Emotion recognition in amyotrophic lateral sclerosis in a dynamic environment
The aim of our study was to measure the ability of ALS patients to process dynamic facial expressions as compared to a control group of healthy subjects and to correlate this ability in ALS patients with neuropsychological, clinical and neurological measures of the disease. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - April 16, 2024 Category: Neurology Authors: Marco Ceccanti, Laura Libonati, Federica Moret, Edoardo D'Andrea, Maria Cristina Gori, Francesco Saverio Bersani, Maurizio Inghilleri, Chiara Cambieri Source Type: research
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
AbstractAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with theC9orf72 repeat expansion being the most common genetic cause. While the prevalence ofC9orf72-ALS in patients from different populations has been studied, data regarding the yield ofC9orf72 compared to an ALS gene panel testing is limited.We aimed to explore the application ofC9orf72 versus a gene panel in the general Israeli population. A total of 140 ALS patients attended our Neurogenetics Clinic throughout 2018 –2023. Disease onset was between ages 60 and 69 years for most patients (34%); however, a ...
Source: Journal of Neurology - April 16, 2024 Category: Neurology Source Type: research
Genes, Vol. 15, Pages 496: Neurofilaments in Sporadic and Familial Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis
The objectives of this study were to assess the diagnostic and prognostic utility of neurofilaments in ALS. Methods: Studies were conducted in electronic databases (PubMed/MEDLINE, Embase, Web of Science, and Cochrane CENTRAL) from inception to 17 August 2023, and investigated neurofilament light (NfL) or phosphorylated neurofilament heavy chain (pNfH) in ALS. The study design, enrolment criteria, neurofilament concentrations, test accuracy, relationship between neurofilaments in cerebrospinal fluid (CSF) and blood, and clinical outcome were recorded. The protocol was registered with PROSPERO, CRD42022376939. Results: Sixt...
Source: Genes - April 16, 2024 Category: Genetics & Stem Cells Authors: Pashtun Shahim Gina Norato Ninet Sinaii Henrik Zetterberg Kaj Blennow Leighton Chan Christopher Grunseich Tags: Review Source Type: research
Chinese Translation and Validation of the Center for Neurologic Study Lability Scale
ConclusionThe Chinese version of the CNS-LS demonstrated good sensitivity and specificity in the group of patients with ALS enrolled in this study. The CNS-LS should be a useful instrument for clinical and research purposes for patients in this language group. (Source: Neurology and Therapy)
Source: Neurology and Therapy - April 16, 2024 Category: Neurology Source Type: research
Optimizing breathlessness management in amyotrophic lateral sclerosis: insights from a comprehensive systematic review
Breathlessness is a prevalent symptom affecting the quality of life (QOL) of Amyotrophic Lateral Sclerosis (ALS) patients. This systematic review explored the interventions for controlling breathlessness in AL... (Source: BMC Palliative Care)
Source: BMC Palliative Care - April 16, 2024 Category: Palliative Care Authors: Catarina Bico Filipe, Nuno Reis Carreira and Paulo Reis-Pina Tags: Research Source Type: research
Long-Timescale Atomistic Simulations Uncover Loss-of-Function Mechanisms of Uncharacterized Angiogenin Mutants Associated with ALS
This study focused on investigating two uncharacterized ANG mutations, T11S and R122H, newly identified in the Project Mine consortium. Using extensive computational analysis, including structural modeling and microsecond-timescale molecular dynamics (MD) simulations, we observed conformational changes in the catalytic residue His114 of ANG induced by T11S and R122H mutations. These alterations impaired ribonucleolytic activity, as inferred through molecular docking and binding free energy calculations. Gibbs free energy landscape and residue-residue interaction network analysis further supported our findings, revealing th...
Source: Archives of Biochemistry and Biophysics - April 15, 2024 Category: Biochemistry Authors: Deeksha Dewangan Aryaman Joshi Aditya K Padhi Source Type: research
Dissecting the effect of ALS mutation S375G on the conformational properties and aggregation dynamics of TDP-43 < sub > 370-375 < /sub > fragment
This study offers for the first time of molecular insights into the S375G mutation affecting the aggregation of TDP-43370-375 at the atomic level, and may open new avenues in the development of future site-specific mutation therapeutics.PMID:38615537 | DOI:10.1016/j.bpc.2024.107230 (Source: Biophysical Chemistry)
Source: Biophysical Chemistry - April 14, 2024 Category: Chemistry Authors: Zhengdong Xu Jianxin Zhang Jiaxing Tang Yehong Gong Yu Zou Qingwen Zhang Source Type: research
Toxic gain-of-function mechanisms in < em > C9orf72 < /em > ALS-FTD neurons drive autophagy and lysosome dysfunction
Autophagy. 2024 Apr 14. doi: 10.1080/15548627.2024.2340415. Online ahead of print.ABSTRACTHexanucleotide repeat expansions in the C9orf72 gene are the primary genetic cause for both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two related neurodegenerative diseases. Significant advances in the elucidation of the disease mechanisms responsible for C9orf72 ALS-FTD have revealed both a toxic gain-of-function and a loss-of-function mechanism as possible underlying disease cause. As the differential contribution of both gain and loss of function in C9orf72 ALS-FTD pathogenesis remains debated, we inves...
Source: Autophagy - April 14, 2024 Category: Cytology Authors: Jimmy Beckers Philip Van Damme Source Type: research
Dissecting the effect of ALS mutation S375G on the conformational properties and aggregation dynamics of TDP-43 < sub > 370-375 < /sub > fragment
This study offers for the first time of molecular insights into the S375G mutation affecting the aggregation of TDP-43370-375 at the atomic level, and may open new avenues in the development of future site-specific mutation therapeutics.PMID:38615537 | DOI:10.1016/j.bpc.2024.107230 (Source: Biophysical Chemistry)
Source: Biophysical Chemistry - April 14, 2024 Category: Chemistry Authors: Zhengdong Xu Jianxin Zhang Jiaxing Tang Yehong Gong Yu Zou Qingwen Zhang Source Type: research
Toxic gain-of-function mechanisms in < em > C9orf72 < /em > ALS-FTD neurons drive autophagy and lysosome dysfunction
Autophagy. 2024 Apr 14. doi: 10.1080/15548627.2024.2340415. Online ahead of print.ABSTRACTHexanucleotide repeat expansions in the C9orf72 gene are the primary genetic cause for both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two related neurodegenerative diseases. Significant advances in the elucidation of the disease mechanisms responsible for C9orf72 ALS-FTD have revealed both a toxic gain-of-function and a loss-of-function mechanism as possible underlying disease cause. As the differential contribution of both gain and loss of function in C9orf72 ALS-FTD pathogenesis remains debated, we inves...
Source: Autophagy - April 14, 2024 Category: Cytology Authors: Jimmy Beckers Philip Van Damme Source Type: research
Dissecting the effect of ALS mutation S375G on the conformational properties and aggregation dynamics of TDP-43 < sub > 370-375 < /sub > fragment
This study offers for the first time of molecular insights into the S375G mutation affecting the aggregation of TDP-43370-375 at the atomic level, and may open new avenues in the development of future site-specific mutation therapeutics.PMID:38615537 | DOI:10.1016/j.bpc.2024.107230 (Source: Biophysical Chemistry)
Source: Biophysical Chemistry - April 14, 2024 Category: Chemistry Authors: Zhengdong Xu Jianxin Zhang Jiaxing Tang Yehong Gong Yu Zou Qingwen Zhang Source Type: research
