Update on recent advances in amyotrophic lateral sclerosis

Journal of Neurology, Journal Year: 2024, Volume and Issue: 271(7), P. 4693 - 4723

Published: May 27, 2024

Abstract In the last few years, our understanding of disease molecular mechanisms underpinning ALS has advanced greatly, allowing first steps in translating into clinical practice novel research findings, including gene therapy approaches. Similarly, recent advent assistive technologies greatly improved possibility a more personalized approach to supportive and symptomatic care, context an increasingly complex multidisciplinary line actions, which remains cornerstone management. Against this rapidly growing background, here we provide comprehensive update on most studies that have contributed towards pathogenesis, latest results from trials as well future directions for improving management patients.

Language: Английский

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The Spectrum of Cognitive Dysfunction in Amyotrophic Lateral Sclerosis: An Update

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(19), P. 14647 - 14647

Published: Sept. 27, 2023

Cognitive dysfunction is an important non-motor symptom in amyotrophic lateral sclerosis (ALS) that has a negative impact on survival and caregiver burden. It shows wide spectrum ranging from subjective cognitive decline to frontotemporal dementia (FTD) covers various domains, mainly executive/attention, language verbal memory deficits. The frequency of impairment across the different ALS phenotypes ranges 30% 75%, with up 45% fulfilling criteria FTD. Significant genetic, clinical, pathological heterogeneity reflects deficits domains. Modern neuroimaging studies revealed degeneration widespread involvement limbic white matter systems, hypometabolism relevant areas. Morphological substrates are hippocampal atrophy synaptic loss, associated TDP-43 other co-pathologies, including tau deposition. Widespread functional disruptions motor extramotor networks, as well frontoparietal, frontostriatal connectivities, markers for ALS. reserve may moderate effect brain damage but not protective against decline. natural history its relationship FTD fully understood, although there overlap between variants ALS-related syndromes, suggesting differential vulnerability networks. An assessment risks or early detection connectivity signatures before structural changes be helpful investigating pathophysiological mechanisms ALS, which might even serve novel targets effective disease-modifying therapies.

Language: Английский

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C9orf72 repeat expansions modify risk for secondary motor and cognitive-behavioral symptoms in behavioral-variant frontotemporal degeneration and amyotrophic lateral sclerosis

Published: May 1, 2024

In behavioral-variant frontotemporal degeneration (bvFTD) and amyotrophic lateral sclerosis (ALS), secondary motor or cognitive-behavioral symptoms, respectively, are associated with shorter survival. However, factors influencing symptom development remain largely unexplored. We performed a retrospective evaluation of the entire disease course individuals ALS (n=172) bvFTD (n=69). Only who had neuropathological confirmation TDP-43 proteinopathy at autopsy

Language: Английский

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Education moderates the association between motor involvement and executive status in ALS

European Journal of Neurology, Journal Year: 2024, Volume and Issue: 32(1)

Published: Dec. 30, 2024

This study aimed to determine whether educational attainment-a common proxy of cognitive reserve (CR)-influences the association between motor and cognitive/behavioural outcomes in a large cohort ALS patients without dementia.

Language: Английский

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