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Amyotrophic Lateral Sclerosis - Springer Nature

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Last Updated: 27 November 2022

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Identification of potentially functional modules and diagnostic genes related to amyotrophic lateral sclerosis based on the WGCNA and LASSO algorithms

Amyotrophic lateral sclerosis is a genetically and phenotypically heterogeneous disease that results in motor neuron loss. Based on the results of the Gene Expression Omnibus, the present research is aimed at finding a potentially genetic biomarker that may help in the diagnosis and therapy of ALS patients. We then created an ALS-related simulation that included absolute shrinkage and selection operator regression analysis, and tested the model by the receiver operating characteristic curve. Besides, we screened the non-preserved gene modules in FTD and ALS-mimic diseases in FTD and ALS-mimic disorders to identify ALS-related genes from disorders with overlapping genes and characteristics. u2018autophagy and u2018amyotrophic lateral sclerosis (u2019) were among other ALS-related modules enriched in u2018autophagyu2019 and u2018amyotrophic lateral sclerosis, respectively. u2019 The 30 top of hub genes were graft to a LASSO regression model, and 5 genes were identified as potentially diagnostic ALS biomarkers with validating the ROC curve and AUC values.

Source link: https://doi.org/10.1038/s41598-022-24306-2


Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation

In 26% of amyotrophic lateral sclerosis patients, mutations in the gene encoding the ubiquitously expressed free radical scavenging enzyme superoxide dismutase-1 are present. In circumscribed cortical areas of the frontal and temporal lobes as well as in the insula, we also noticed pronounced gliosis. The histopathology in patients homozygous for the D90A SOD1 extends beyond the motor system to include cognitive and sensory cortical areas, as shown by the symptoms and signs, as well as earlier neurophysiological and imaging studies. However, there were no SOD1-inclusion pathology nor any normal abnormalities in non-nervous organs in patients with a symptomatic disease course for more than two or three decades and lived into their 70s or 80s.

Source link: https://doi.org/10.1007/s00401-022-02519-z


Resting state fMRI analysis of pseudobulbar affect in Amyotrophic Lateral Sclerosis (ALS): motor dysfunction of emotional expression

Functional and structural abnormalities in ALS patients and 26 healthy controls were investigated by a resting state functional MRI independent component and seed-based analyses and voxel-based morphometry whole-brain analysis for investigating functional and structural abnormalities in ALS patients and 26 healthy controls compared to HC and patients with PBA, as well as patients without PBA. Patients with PBA and others without PBA showed varying FC patterns, particularly decreased FC in several areas of cognitive and sensory-motor networks in patients with PBA compared to those without PBA. In patients with PBA compared to patients without PBA, middle cerebellar peduncles and posterior cingulate cortex, increased FC between middle cerebellar peduncles and posterior cingulate cortex, reduced FC between middle cerebellar peduncles and left middle frontal gyrus in middle cerebellar peduncles and posterior cingulate cortex, and reduced FC in patients with PBA. In patients with PBA who are not PBA, the difference between cerebellum and posterior cingulate cortex, and left middle frontal gyrus in patients with PBA contrast to those without PBA shows a significant role of the cerebellum in regulating emotion expression in patients with ALS.

Source link: https://doi.org/10.1007/s11682-022-00744-4


Ultrasonographic and manometric study of the tongue as biomarkers of dysphagia in patients with amyotrophic lateral sclerosis

Background The possibility of finding techniques to track dysphagia in amyotrophic lateral sclerosis patients in a minimally invasive manner could improve follow-up and allow for the delivery of therapeutic interventions at earlier stages of the disease. The aim of the study was to determine the role of tongue strength and thickness in ALS patients and their association with dysphagia and bulbar function. Methods A analysis of Outpatients with ALS was compiled for socioeconomic and medical characteristics. Patients with impaired oral and pharyngeal transit, as well as those with a bolus residue scale > 1 or a penetration scale u2265 3. Eventually, anterior tongue strength u2264 34 kPa and posterior tongue strength u2264 34. 5 kPa revealed ALS penetrators/aspirators and patients with ALS with post-swallow residue, which was accompanied by post-swallow residue. Conclusions Our findings suggest that tongue testing and functionality are more useful than morphological ones for the follow-up to patients with ALS.

Source link: https://doi.org/10.1007/s10072-022-06486-x


T cell responses at diagnosis of amyotrophic lateral sclerosis predict disease progression

T cells in the blood and cerebrospinal fluid of newly diagnosed ALS patients can predict disease progression, according to Here authors, who have found that T cells play a role in disease pathology. Amyotrophic lateral sclerosis (M1G) is a fatal neurodegenerative disorder that affects neuroinflammation and T cell infiltration in the central nervous system. Here we show that by flow cytometric analysis of blood and cerebrospinal fluid samples of a cohort of 89 newly diagnosed ALS patients in Stockholm, Sweden, that T cell phenotypes at the time of diagnosis are reliable predictors of disease progression. Chronic pain is attributed to poor longevity, in blood and CSF, the high incidence of activated regulatory T cells and a high ratio between activated and resting Treg cells are associated with improved longevity, although serum and CSF contain high frequencies of CD4+FOXP312 effector T cells are correlated with poor health, with poor longevity, but a higher number of activated regulatory T cells and a high ratio of activated Treg cells in blood and CSF are correlated with improved survival. Besides survival, phenotypic profiling of T cells could also predict disease progression.

Source link: https://doi.org/10.1038/s41467-022-34526-9


Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia

Background studies have shown that a noncoding hexanucleotide repeat in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia among Caucasian populations, though in Chinese populations, it is uncommon. Accordingly, we wanted to investigate the mutation profile of Chinese ALS patients with FTD. Methods ALS patients with and without cognitive impairments were enrolled. Results A total of 1208 patients were included, including 66 familial ALS and 1142 sporadic ALS patients. One of the ALS and one familial ALS index had concomitant FTD, accounting for 1. 99% of patients with ALS. Motor symptom onset and severe cognitive impairment followed by both ALS-FTD patients with variants in known causative genes. Conclusions Our results provide an overview of the genetic variants present in Chinese ALS-FTD patients.

Source link: https://doi.org/10.1186/s13023-022-02531-2


Quality of life and mental health in the locked-in-state—differences between patients with amyotrophic lateral sclerosis and their next of kin

The maintenance of quality of life and mental stability is particularly important for both patients with amyotrophic lateral sclerosis and their next of kin. Patients and NOK's QoL results show significant differences in QoL results, but no one is aware of advanced ALS stages. For 15 couples of iLIS patients and NOK, final results were obtained. Of note, NOK exhibited higher anxiety symptoms than others. Greater anxiety levels in NOK were correlated with increased caregiver burden and reduced QoL. Patients misjudged patient QoL by the NOK, which was evident, although patients underestimated NOKu2019s global QoL. Although the daily time NOK and patient spend together was positively correlated with NOK's QoL and mental stability, this was not found for the patients. The findings show that direct psychological wellness assessment of both patients and NOK in clinical practice is espoused by eye-tracking technology for patients in iLIS.

Source link: https://doi.org/10.1007/s00415-022-11238-0

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions