Journal of Clinical Neurology最新文献

Magnetic resonance-guided focused ultrasound (MRgFUS) has rapidly evolved from an experimental concept into a versatile platform in functional neurosurgery. Initially pioneered as a noninvasive thermal ablation modality for essential tremor, MRgFUS has since gained regulatory approval and demonstrated durable long-term efficacy. Its clinical applications have expanded to include Parkinson's disease, chronic pain, psychiatric disorders, and investigational use in dystonia, epilepsy, and brain tumors. Beyond lesioning, low-intensity focused ultrasound enables reversible neuromodulation and transient blood-brain barrier opening, facilitating drug and gene delivery in conditions such as Alzheimer's disease and glioblastoma. Comparative analyses highlight MRgFUS as an incisionless alternative to traditional modalities like deep brain stimulation, radiofrequency ablation, and radiosurgery, offering unique advantages in precision, safety, and patient acceptability while retaining certain limitations, including irreversibility and eligibility constraints due to skull properties. Emerging innovations-such as dual-target strategies, staged bilateral procedures, adaptive focusing technologies, and integration with immuno- or gene therapies-are expanding its therapeutic potential. Collectively, these advances position MRgFUS as not only an ablative tool but also a transformative neuromodulation platform with broad implications for the treatment of movement disorders, neuropsychiatric disease, and neurodegeneration.

Background and purpose: Although trigeminal neuralgia (TN) imposes a substantial burden on quality of life and mental health, epidemiological estimates of its incidence and prevalence remain limited. Thus, we aimed to comprehensively assess the epidemiological and clinical features of TN from 1945 to 2024.

Methods: A comprehensive literature search was performed using PubMed/MEDLINE, Embase, CINAHL, and Google Scholar databases up to January 22, 2025, with search terms related to "trigeminal neuralgia." TN was defined according to the International Classification of Headache Disorders (ICHD)-1, Rushton and Olafson criteria, and International Classification of Diseases (ICD) codes prior to 2004, which primarily relied on clinical features for diagnosis, whereas the ICHD-2, ICHD-3, Read codes, and ICD codes after 2004 were grouped together, as these criteria incorporated imaging modalities into the diagnostic process. A random-effects model was applied to calculate pooled estimates with 95% confidence intervals (CIs) for the incidence, prevalence and lifetime prevalence of TN. In addition, meta-regression models were also fitted using inverse-variance weighting.

Results: A total of 17 eligible studies, comprising over 170 million participants and 109,070 patients with TN, were included in the analysis. Global pooled incidence of TN was estimated at 25.33 cases per 100,000 person-years (95% CI, 11.87-54.02), while the global pooled annual prevalence was 45.38 cases per 100,000 inhabitants (15.41-133.61), and the global pooled lifetime prevalence was 108.43 cases per 100,000 inhabitants (30.54-384.18). Incidence and prevalence estimates tended to be higher in females than in males, more often right-sided, and more frequent in the maxillary and mandibular divisions than in the ophthalmic division; however, the certainty of these subgroup differences was low. Lastly, the incorporation of imaging modalities into diagnostic criteria may have contributed to the increased prevalence of TN.

Conclusions: This study highlights substantial global variations in TN incidence and prevalence, with how the evolving diagnostic criteria affects the epidemiological features of TN.

Background and purpose: Efgartigimod, a neonatal Fc receptor inhibitor, reduces IgG recycling and thus decreases pathogenic IgG autoantibody levels. This subpopulation analysis aimed to assess the efficacy, safety, and tolerability of subcutaneous efgartigimod PH20 in Chinese participants with chronic inflammatory demyelinating polyneuropathy (CIDP).

Methods: ADHERE was a multistage, randomised-withdrawal, placebo-controlled phase II trial in adult participants with active CIDP. Eligible participants received open-label treatment with efgartigimod weekly for ≤12 weeks (Stage A) and those with confirmed evidence of clinical improvement (ECI) were randomised to receive double-blind treatment with efgartigimod or placebo weekly for ≤48 weeks (Stage B). Primary endpoints were proportion of participants with confirmed ECI (Stage A) and time to clinical deterioration as measured by adjusted Inflammatory Neuropathy Cause and Treatment score (Stage B). This descriptive analysis reports the results from the Chinese subpopulation.

Results: ADHERE enrolled 58 participants from mainland China for Stage A and of those, 47 were randomised (21 efgartigimod, 26 placebo) for Stage B. In Stage A, 45 (77.6%; 95% confidence interval [CI], 64.7%-87.5%) participants achieved confirmed ECI. In Stage B, median time to clinical deterioration was not reached with efgartigimod vs. 113.0 days (95% CI, 43.0-181.0 days) with placebo (hazard ratio, 0.313; 95% CI, 0.109-0.905). Across stages, most adverse events were mild or moderate, and no death occurred. No adverse events led to treatment discontinuation.

Conclusions: Subcutaneous efgartigimod PH20 demonstrated clinical response and lowered the risk of clinical deterioration compared to placebo in Chinese participants with CIDP, while maintaining favourable safety and tolerability profiles.

Background and purpose: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons leading to progressive disability and death. Approximately 10% of cases are caused by single-gene disorders with the remaining 90% of cases presumed to be caused by a combination of environmental and genetic factors. The microbiome (the ensemble of microorganisms that colonize body surfaces and organs) was recently identified for its importance in the pathogenesis of ALS.

Methods: In this study, we recruited 100 participants from two ethnically and geographically distinct sites (71 from Calgary, Canada, and 29 from Seoul, Republic of Korea) which included 59 ALS participants and 41 controls. All participants provided saliva samples for oral microbial analysis using 16S rRNA sequencing. Basic demographic information was collected from all participants, and ALS participants provided additional clinical information including site of disease onset, disease duration, and ALS Functional Rating Scale - Revised score.

Results: Significant differences in beta diversity of the oral microbiomes were seen between limb- and bulbar-onset ALS participants. Two bacterial genera were differentially abundant between these groups, Bifidobacteriaceae Bifidobacterium was enriched in bulbar-onset cases, while Pasteurellaceae Haemophilus was enriched in limb-onset cases. No significant differences were found between ALS participants and controls, but there were significant differences when comparing participants from different sites of recruitment. Amongst household pairs (n=35 pairs), ALS participants differed from control participants at the Seoul site.

Conclusions: Despite the cohort and household effects, our study identified differentially abundant organisms that may be important to the phenotypic variability of ALS and should be considered for future study. Our study provides novel insights into design for future multi-site microbiome research in ALS.

Background and purpose: Otoliths degenerate with aging, but the underlying factors are not well understood. We aimed to identify risk factors associated with otolith function in patients with dizziness and vertigo.

Methods: This cross-sectional study analyzed 624 patients with benign paroxysmal positional vertigo, benign recurrent vertigo, or persistent postural-perceptual dizziness who presented at a tertiary referral center between March 2017 and July 2021. Otolith function was assessed using summated amplitudes of cervical and ocular vestibular evoked myogenic potentials (SA-cVEMPs and SA-oVEMPs). The relationships between otolith function and potential risk factors were analyzed using two types of generalized linear model: a zero-adjusted gamma model for SA-cVEMPs and a standard gamma model for SA-oVEMPs.

Results: In the multivariable model, SA-cVEMP was negatively associated with age (β=-0.012, effect=-1.23%), female sex (β=-0.110, effect=-10.42%), and free thyroxine (β=-0.298, effect=-25.74%), and positively associated with high-density lipoprotein cholesterol (β=0.005, effect=0.46%). SA-oVEMP was negatively associated with age (β=-0.008, effect=-0.84%) and positively associated with female sex (β=0.141, effect=15.19%).

Conclusions: The findings of this study suggest that various systemic factors beyond age and sex are related to otolith function via effects on the microvasculature and structural constituents. These findings provide new insights into potential mechanisms of otolith degeneration and highlight the impact of systemic factors on otolith function.

Background and purpose: The optimal thrombectomy technique in emergent large vessel occlusion due to cancer-associated coagulopathy remains uncertain. We aimed to investigate the efficacy and safety of concurrent contact aspiration and stent retriever in this stroke subtype.

Methods: We retrospectively analyzed consecutive ischemic stroke patients who had undergone endovascular thrombectomy. Patients were characterized as having cancer-associated stroke (CAS) or non-cancer-associated stroke (non-CAS). Thrombectomy technique was classified as a single strategy (either contact aspiration or a stent retriever) or a combined technique (concurrent use of contact aspiration and a stent retriever at least once). Successful recanalization was defined as a modified TICI grade 2b or 3 at the end of the procedure. Factors associated with successful recanalization were analyzed.

Results: The present study enrolled 393 patients. Of these patients, 56 (14.2%) were found to have cancer-associated stroke. Rates of recanalization (69.6% vs. 91.7%, p<0.001) and 3-month good clinical outcomes (25.5% vs. 42.0%, p=0.025) were significantly lower in patients with CAS than non-CAS, respectively. Although the combined technique was not associated with successful recanalization in the entire cohort, the combined technique was associated with successful recanalization in patients with CAS (odds ratio 6.256, 95% confidence interval, 1.224-31.970; p=0.028). The interaction term between the combined technique and the stroke subtype (CAS vs. non-CAS) was independently associated with successful recanalization (p=0.029).

Conclusions: The combined technique was associated with successful recanalization in patients with cancer-associated stroke and emergent large vessel occlusion.

Parkinson's disease (PD) has traditionally been diagnosed through clinical motor symptoms and the postmortem identification of pathological α-synuclein aggregates in Lewy bodies. The focus of diagnostic paradigms has recently moved from clinical approaches toward biological measures. The cerebrospinal-fluid-based real-time quaking-induced conversion (RT-QuIC) assay demonstrates high sensitivity and specificity, significantly enhancing its diagnostic accuracy. Although the RT-QuIC assay has not yet been fully integrated into clinical practice, rapid increases in its application have made it essential to diagnostic protocols. This review examines the development, current applications, and efficacy of the RT-QuIC assay in PD, dementia with Lewy bodies, multiple-system atrophy, prodromal conditions, and elucidating clinical-pathological discrepancies. The findings can provide clear guidance for clinicians and researchers, facilitate accurate interpretations of RT-QuIC results, support informed clinical decision-making, and ultimately improve diagnostic precision and personalized management strategies across the spectrum of synucleinopathies.