Clinical neurology:

CONCLUSIONS: Treatment with ANGE-S003 is feasible, generally safe and well tolerated, associated with functional improvement in clinical outcomes with peak efficacy achieved at month 6. Intranasal transplantation of neural stem cells represents a new avenue for the treatment of PD, and a larger, longer-term, randomised, controlled phase 2 trial is warranted for further investigation.

This review of vestibular neurology for the general neurologist delves into the multifaceted realm of vestibular neurology where we address the diagnostic and therapeutic challenges associated with dizziness, vertigo and balance disorders. We outline the standard vestibular assessments that can be understood and incorporated by the generalist, discussing their use in common vestibular disorders. Key disorders covered include acute and chronic syndromes, benign paroxysmal positional vertigo, Meniere disease, vestibular migraine and persistent postural-perceptual dizziness. We also touch on emerging advances in vestibular genotyping and novel treatment approaches for balance problems.

BACKGROUND: Sleep fragmentation is a persistent problem throughout the course of Parkinson's disease (PD). However, the related neurophysiological patterns and the underlying mechanisms remained unclear.

CONCLUSIONS: Consistently with physiopathology, MOG-IgG ITS is a promising prognostic factor in MOGAD, and its calculation could enhance the clinical relevance of CSF MOG-IgG testing, making a case for its introduction in clinical practice.

CONCLUSIONS: repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study.

No abstract available

CONCLUSIONS: Unfavorable functional outcomes despite successful vessel recanalization were frequent in acute ischemic stroke patients with low NIHSS scores on admission. We provide patient-specific risk factors that indicate an increased risk of FR and should be considered when treating patients with minor stroke.

CONCLUSIONS: Our survey reveals significant heterogeneity in approaches to EVT for CVT, and provides a comprehensive characterization of indications, techniques and long-term management used by clinicians internationally. This resource will aid in optimizing patient selection and endovascular treatments for future trials.

BACKGROUND AND OBJECTIVE: Memory impairment is a frequent and debilitating symptom in neurodegenerative disorders. The objective of this study was to provide proof-of-principle that deep brain stimulation during sleep can modify memory consolidation in people with Parkinson's disease depending on the stimulation frequency that is applied.

BACKGROUND: The risk-benefit relationship of immunosuppressive therapies (ISTs) for elderly patients with neuromyelitis optica spectrum disorder (NMOSD) is not well established. This study aimed to investigate the safety and efficacy of IST in elderly patients with NMOSD.

IMPORTANCE: Immunoglobulin G4 (IgG4)-related disease is an increasingly recognized fibroinflammatory condition that can involve multiple organs, including the pachymeninges. The understanding of IgG4-related pachymeningitis (IgG4-RP) remains limited because of its rarity and the predominance of knowledge derived from case reports and case series.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by sporadic misexpression of the transcription factor double homeobox 4 (DUX4) in skeletal muscles. So far, monolayer cultures and animal models have been used to study the FSHD disease mechanism and for FSHD therapy development, but these models do not fully recapitulate the disease and there is a lack of knowledge on how DUX4 misexpression leads to skeletal muscle dysfunction. To overcome these barriers, we have developed a three-dimensional tissue engineered skeletal muscle (3D-TESM) model by generating genetically matched myogenic progenitors (MPs) from human induced pluripotent stem cells of three mosaic FSHD patients. 3D-TESMs derived from genetically affected MPs recapitulate pathological features including DUX4 and DUX4 target gene expression, smaller myofiber diameters, and reduced absolute forces upon electrical stimulation. RNA sequencing data illustrates increased expression of DUX4 target genes in 3D-TESMs compared to two-dimensional (2D) myotubes, and cellular differentiation was improved by 3D culture conditions. Treatment of 3D-TESMs with three different small molecules identified in drug development screens in 2D muscle cultures showed no improvements, and sometimes even declines, in contractile force and sarcomere organization. These results suggest that these compounds either have a detrimental effect on the formation of 3D-TESMs, an effect that might have been overlooked or was challenging to detect in 2D cultures and in vivo models, and/or that further development of the 3D-TESM model is needed. In conclusion, we have developed a 3D skeletal muscle model for FSHD that can be employed for preclinical research focusing on DUX4 expression and downstream pathways of FSHD in relation to contractile properties. In the future, we expect that this model can also be used for preclinical drug screening.

BACKGROUND: Glioblastoma (GBM) is an aggressive form of brain cancer in which treatment is associated with toxicities that can result in therapy discontinuation or death. This analysis investigated clinical and genetic markers of vascular toxicities in GBM patients during active treatment.

BACKGROUND: Peak-width of skeletonized mean diffusivity (PSMD), a neuroimaging marker of cerebral small vessel disease (SVD), has shown excellent instrumental properties. Here, we extend our work to perform a biological validation of PSMD.

BACKGROUND AND OBJECTIVES: Glial fibrillary acidic protein (GFAP) antibodies (abs) have been described primarily in adults with a spectrum of autoimmune-mediated diseases. In children, data on clinical and neuroradiologic features of children with autoimmune GFAP astrocytopathy are limited. The aim of this study was to describe the clinical and radiologic features in children with GFAP-ab-associated diseases.

CONCLUSIONS: This study highlights the high prevalence of headache disorders, particularly migraine and TTH, among medical students in Vietnam. These findings underscore the critical need for public health initiatives to improve early diagnosis and effective management of headache disorders within this population.

Treating cognitive impairment is a holy grail of modern clinical neuroscience. In the past few years, non-invasive brain stimulation is increasingly emerging as a therapeutic approach to ameliorate performance in patients with cognitive impairment and as an augmentation approach in persons whose cognitive performance is within normal limits. In patients with Alzheimer's disease, better understanding of brain connectivity and function has allowed for the development of different non-invasive brain stimulation protocols. Recent studies have shown that transcranial stimulation methods enhancing brain plasticity with several modalities have beneficial effects on cognitive functions. Amelioration has been shown in preclinical studies on behaviour of transgenic mouse models for Alzheimer's pathology and in clinical studies with variable severity of cognitive impairment. While the field is still grappling with issues related to the standardization of target population, frequency, intensity, treatment duration and stimulated region, positive outcomes have been reported on cognitive functions and on markers of brain pathology. Here we review the most encouraging protocols based on repetitive transcranial magnetic stimulation, transcranial direct current stimulation, transcranial alternating current stimulation, visual-auditory stimulation, photobiomodulation and transcranial focused ultrasound, which have demonstrated efficacy to enhance cognitive functions or slow cognitive decline in patients with Alzheimer's disease. Beneficial non-invasive brain stimulation effects on cognitive functions are associated with the modulation of specific brain networks. The most promising results have been obtained targeting key hubs of higher-level cognitive networks, such as the frontal-parietal network and the default mode network. The personalization of stimulation parameters according to individual brain features sheds new light on optimizing non-invasive brain stimulation protocols for future applications.

New possibilities of biomarker-based predictive technologies for Alzheimer's disease (AD) have become more reliable as well as more accessible. Standardized clinical recommendations and guidance for counseling and disclosure in this context are not yet well developed. Our scoping review identified publications from database searches in PubMed, PsycINFO, LIVIVO, and Web of Science. Inclusion criteria were: (1) information or counseling, (2) biomarkers and a type of cognitive impairment or AD, and (3) published between 2005 and 2024. We identified 63 articles and synthesized them along the categories of staged information provision: pre-test counseling, disclosure, and post-disclosure follow-up. Most publications referred to the context of disclosure (48), followed by pre-test counseling (33), and post-disclosure follow-up (31). Some publications referred to all stages of counseling (17). Our findings highlight the need to further develop and specify comprehensive and standardized guidelines for counseling, disclosure, and post-disclosure follow-up in the context of AD biomarker testing. HIGHLIGHTS: New possibilities of biomarker-based predictive technologies for Alzheimer's disease (AD) have become more reliable and also more accessible. However, clinical recommendations and guidance for counseling and disclosure in the context of AD biomarker testing are currently not well developed. We carried out a scoping review with the aim to generate an overview of the scientific literature and guidance available regarding counseling, biomarker test result and dementia risk disclosure, and clinical management prior to and in the course of a biomarker-based diagnosis in early stages of AD. We identified 63 relevant articles. Most publications referred to the context of disclosure (48), followed by pre-test counseling (33), and post-disclosure follow-up (31). Some publications referred to all stages of counseling (17). Our findings highlight the urgent need for national and international consensus guidelines for comprehensive and staged counseling and disclosure practices. While most publications identify relevant ethical challenges posed for counseling practices in the context of AD biomarker testing, they rarely present any practical recommendations for clinicians, on how and what to counsel on a concrete level.

IMPORTANCE: Data from 2 phase 3 studies of gantenerumab, GRADUATE I/II, and their open-label extensions represent a resource to further characterize amyloid-related imaging abnormalities (ARIA), including long-term sequelae.

Achieving health equity in stroke prevention, treatment, and recovery has continued to be a significant challenge. This article highlights the significance of health equity and the role of community-engaged research in addressing stroke disparities, including concepts around health equity as the fair and just opportunity for everyone to attain their highest level of health and well-being. Social determinants impact stroke incidence, prevalence, morbidity, and mortality, which emphasizes the importance of intersectionality and social risk-informed care. A comprehensive roadmap for achieving health equity in stroke through the integration of community-engaged research is presented, including the necessity of community involvement in all aspects of research. Community is defined beyond geographic boundaries, highlighting the importance of shared identities and values. The process of developing targeted goals with communities toward social justice reform is reviewed, including an evolved community engagement framework, emphasizing the need for training to inform about issues and collaborative leadership models. Several stroke disparities intervention studies are highlighted, demonstrating the successful incorporation of community engagement into intervention design and intervention platforms. For enhanced engagement, the use of community health workers and better integration of community health worker models are essential. There may be a critical need for community engagement to optimize inclusion in clinical trials. Finally, acknowledging the complexities of research around decreasing stroke disparities in prevention, treatment, and recovery, this article delves into a framework for understanding the mechanisms by which interventions affect inequities and the need for multifaceted solutions with the community as a partner. Highlighting the roadmap to health equity, this research argues that community engagement is an integral component at all steps along the road to achieving optimum brain health through equitable stroke treatment, prevention, and recovery.