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Seeding activity of human superoxide dismutase 1 aggregates in familial and sporadic amyotrophic lateral sclerosis postmortem neural tissues by real-time quaking-induced conversion
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with average lifespan of 2–5 years after diagnosis. The...
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Translating the ALS Genetic Revolution into Therapies: A Review
Purpose of ReviewAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing weakness, respiratory failure, and death within 3 to...
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PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which currently lacks effective treatments. Mutations in the RNA-binding...
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Clinical spreading of muscle weakness in amyotrophic lateral sclerosis (ALS): a study in 910 patients
BackgroundNeuroanatomical staging of sporadic amyotrophic lateral sclerosis (ALS) indicates that neurodegeneration may spread corticofugally.
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Genome-wide DNA methylation analysis related to ALS patient progression and survival
BackgroundEpigenetics contributes to the pathogenesis of amyotrophic lateral sclerosis (ALS). We aimed to characterize the DNA methylation profiles...
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Update on ALS Treatment
Purpose of ReviewWhile amyotrophic lateral sclerosis (ALS) remains a progressive fatal diagnosis, there have been numerous advances in the last...
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Parkinson-ALS with a novel MAPT variant
The mutations on microtubule associated protein tau ( MAPT ) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism,...
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Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis
Background and objectivesAmyotrophic lateral sclerosis associated with mutations in SOD1 ( SOD1 -ALS) might be susceptible to specific treatment. The...
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ALS-plus related clinical and genetic study from China
BackgroundAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. An increasing number of researchers have found extra motor...
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Efficacy of pain management strategies in adults with Amyotrophic Lateral Sclerosis (ALS): A Systematic Review
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle weakness. Presence of pain in ALS patients is...
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Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in...
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Aberrant CHCHD2-associated mitochondriopathy in Kii ALS/PDC astrocytes
Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC), a rare and complex neurological disorder, is predominantly observed in the...
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Role of the immune system in amyotrophic lateral sclerosis. Analysis of the natural killer cells and other circulating lymphocytes in a cohort of ALS patients
AimsNeuroinflammation might be involved in the degeneration and progression of Amyotrophic Lateral Sclerosis (ALS). Here, we studied the role of the...
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Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease mainly affecting upper and lower motoneurons. Several functionally...
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Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a progressive fatal neurodegenerative disease caused by loss of motor neurons and characterized neuropathologically...
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Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation
BackgroundAberrant DNA methylation alterations are implicated in amyotrophic lateral sclerosis (ALS). Nevertheless, the influence of genetic variants...
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A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial
BackgroundAmyotrophic lateral sclerosis (ALS) is a highly debilitating neurodegenerative condition. Despite recent advancements in understanding the...
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Protein profiling of extracellular vesicles from iPSC-derived astrocytes of patients with ALS/PDC in Kii peninsula
BackgroundAmyotrophic lateral sclerosis/Parkinsonism-dementia complex in Kii peninsula, Japan (Kii ALS/PDC), is an endemic neurodegenerative disease...
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[18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes
PurposeTo examine [ 18 F]RO948 retention in FTD, sampling the underlying protein pathology heterogeneity.
MethodsA total of 61 individuals with FTD ( n ...
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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)....
