Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2023
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS. ⋯ We identified three loci associated with the survival of patients with sporadic ALS, decreased mRNA expression of FGF1 and THSD7A and the viability of iPSC-MNs from patients. The iPSC-MN model reflects the association between patient prognosis and genotype and can contribute to target screening and validation for therapeutic intervention.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2023
Multiparametric quantitative MRI reveals progressive cortical damage over time in clinically stable relapsing-remitting MS.
In relapsing-remitting multiple sclerosis (RRMS), cortical grey matter pathology relevantly contributes to long-term disability. Still, diffuse cortical inflammation cannot be detected with conventional MRI. ⋯ Despite clinical stability, cortical T1, T2 and PD values increased over time, indicating progressive demyelination and increasing water content. These parameters represent promising surrogate parameters of diffuse cortical inflammation in RRMS.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2023
Multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension.
We aimed to create a multidisciplinary consensus clinical guideline for best practice in the diagnosis, investigation and management of spontaneous intracranial hypotension (SIH) due to cerebrospinal fluid leak based on current evidence and consensus from a multidisciplinary specialist interest group (SIG). ⋯ This multidisciplinary consensus clinical guideline has the potential to increase awareness of SIH among healthcare professionals, produce greater consistency in care, improve diagnostic accuracy, promote effective investigations and treatments and reduce disability attributable to SIH.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2023
Meta AnalysisEndovascular treatment for large-core ischaemic stroke: a meta-analysis of randomised controlled clinical trials.
Current guidelines recommend endovascular treatment (EVT) for acute ischaemic stroke (AIS), due to large-vessel occlusion and an Alberta Stroke Program Early CT Score (ASPECTS) of ≥6. High-quality evidence resulting from randomised controlled clinical trials (RCTs) regarding EVT among large-core AIS has recently become available, justifying an updated meta-analysis aiming to evaluate efficacy and safety of EVT in this clinical setting. ⋯ CRD42022334417.