Journal of Central Nervous System Disease最新文献

Central nervous system (CNS) demyelination is an uncommon observation in patients with Charcot-Marie-Tooth disease (CMT). Where it does occur, it is usually associated with X-linked CMT. We present a case of CMT type 1A with a likely de novo mutation who experienced initial symptoms, and subsequent exacerbation, of multiple sclerosis following respiratory infection. A review of the literature reveals that reports of CMT1A with CNS demyelination are rare. We propose that the mutations in the PMP22 gene result in an over-expression of PMP22 mRNA, which overcomes the normal suppression by miRNA species that occurs in the CNS. This abnormal expression of PMP22 protein may, in certain circumstances, exacerbate autoimmune responses to result eventually in CNS demyelination.

Background: Epilepsy surgery improves seizure outcomes in Sturge-Weber syndrome (SWS), yet the electrophysiological patterns of postoperative recovery remain poorly characterized. Previous studies suggest that early intervention may yield distinct clinical trajectories, but the associated changes in EEG background activity have not been systematically investigated.

Objective: To investigate whether age of surgery influences the postoperative modulation of EEG background rhythms in children with unilateral SWS, and to evaluate the utility of preoperative EEG asymmetry for lateralizing the epileptogenic hemisphere.

Design: Retrospective cohort study.

Methods: We analyzed children with unilateral SWS who underwent epilepsy surgery, stratified by age at intervention (<2 vs. ≥2 years). Pre- and postoperative scalp EEGs were visually assessed to quantify posterior dominant alpha frequency and slow-wave (delta and theta bands) activity separately in the affected and unaffected hemispheres (AH, UH). Preoperative lateralization accuracy was also evaluated for both frequency bands.

Results: A total of 99 patients were included. Seizure freedom rates were comparable between age groups. However, younger patients exhibited a significantly greater postoperative increase in alpha frequency, particularly in the UH (20 ± 20% vs. 4 ± 10%, P < 0.001). This effect was consistent across both focal resection (17±12% vs. 1 ± 8%, P < 0.001) and hemispheric surgery (22 ± 22% vs. 7 ± 11%, P = 0.006). In contrast, slow-wave modulation did not differ by age. Preoperative alpha asymmetry correctly lateralized the surgical hemisphere in 86.9% of cases (sensitivity 85.7%, specificity 88.0%, κ = 0.74), outperforming slow-wave asymmetry (accuracy 66.7%, κ = 0.33).

Conclusion: Early epilepsy surgery in SWS is associated with enhanced postoperative modulation of alpha frequency in the UH, possibly reflecting greater neuroplastic capacity during early development. Preoperative alpha asymmetry offers robust lateralizing value. These findings support the clinical utility of background EEG analysis in surgical planning and postoperative monitoring.

Background: The DNAjB2 gene encodes a co-chaperone protein that interacts with the heat shock protein (HSP) family to maintain protein quality control and preserve neuronal integrity. Variants in this gene have been associated with the axonal form of Charcot-Marie-Tooth Disease (CMT2). Recent literature has also suggested an association between DNAjB2 variants and neurodegenerative disorders such as Parkinson's disease (PD).

Design/methods: Case Report.

Case description: We present a 36-year-old female patient initially diagnosed with CMT2 at the age of 28, who later developed symptoms of PD in her fourth decade. Genetic test revealed compound heterozygous pathogenic variants in DNAjB2 (c.352+1 G>A and c.175+2T>A).

Conclusion: To our knowledge, this is the first case report describing the dual phenotype of CMT2 and young-onset PD linked to compound heterozygosity in DNAjB2. The dual dysfunction of axonal degeneration and dopaminergic neuron loss suggests that DNAjB2 plays a pivotal role in maintaining proteostasis in both the peripheral and central nervous systems.

Introduction: Distal Medium Vessel Occlusions (DMVOs) represent a significant subset of Acute Ischemic Stroke (AIS), with unique treatment challenges due to vessel size and location. While Endovascular Therapy (EVT) shows promise, its efficacy compared to Best Medical Treatment (BMT) remains unclear.

Methods: PubMed, Cochrane Central, and ScienceDirect were searched from inception till May 2025. Categorical data were pooled as risk ratios (RRs) along with 95% Confidence intervals (CIs) using the Review Manager software. Quality was assessed using the Cochrane Risk of Bias tool and the Newcastle Ottawa Scale.

Results: Thirty-seven studies pooling a total of 9,505 patients were included in this meta-analysis. The excellent functional outcome (modified Rankin Scale (mRS) 0-1) was comparable between both the EVT and BMT arms (RR= 1.04; 95% CI: [0.96, 1.13]; p= 0.34; I²= 59%). Similarly, the functional independence (mRS 0-2) showed no significant difference between the two groups (RR= 1.00; 95% CI: [0.94, 1.06]; p= 0.99; I²= 64%). The 90-day mortality (RR= 1.21; 95% CI: [0.97, 1.52]; p= 0.09; I²= 46%) and neurological deterioration (RR= 1.39; 95% CI: [0.65, 2.95]; p= 0.40; I²= 82%) were also comparable between the two arms. EVT showed a statistically significant increase in early neurological improvement (RR= 1.38; 95% CI: [1.05, 1.82]; p= 0.02; I²= 53%) although it was associated with a high risk of symptomatic intracranial hemorrhage (sICH) (RR= 1.56; 95% CI: [1.15, 2.13]; p= 0.005; I²= 39%).

Conclusion: EVT was associated with a significant increase in the early neurological improvement, although the risk of sICH was high in it. Other safety and efficacy outcomes were comparable. Further high-powered randomized trials are needed to confirm these findings.

Objective: To investigate the association between the Dietary Inflammatory Index (DII) and stroke risk among hypertensive adults, as well as all-cause mortality post-stroke, utilizing data from the National Health and Nutrition Examination Survey (NHANES).

Methods: This cross-sectional analysis included 7,590 hypertensive participants (stroke group: N=609; non-stroke group: N=6,981). DII was derived from 28 dietary components. Participants were stratified into DII tertiles: Q1 (lowest), Q2 (moderate), and Q3 (highest). Weighted multivariable logistic regression assessed associations between DII (continuous and categorical) and stroke prevalence. Restricted cubic splines (RCS) evaluated non-linearity. Subgroup analyses identified effect modifiers. Cox proportional hazards regression modeled associations of DII and its components with all-cause mortality in the stroke cohort.

Results: Stroke patients exhibited significantly higher DII scores than non-stroke controls (P <0.05). Each 1-unit increase in DII was associated with a 13% elevated stroke risk (Odds Ratio (OR)=1.13, 95%CI: 1.04-1.22, P =0.006). Compared to Q1, Q3 had a 68% higher stroke risk (OR=1.68, 95%CI: 1.22-2.32, P=0.002). RCS confirmed significant non-linearity (P<0.001). Antihypertensive medication modified this association (P-interaction =0.042). Among stroke patients, DII demonstrated a U-shaped association with mortality (P-trend =0.048): Q2 had the lowest mortality, while Q1 and Q3 showed poorer survival. Component analysis revealed higher β-carotene scores associated with increased mortality risk (Hazard Ratio (HR)=1.44, 95%CI: 1.01-2.04), whereas higher vitamin A scores correlated with reduced risk (HR=0.68, 95%CI: 0.47-0.99).

Conclusion: This cross-sectional study identifies a significant, dose-response association between elevated DII and increased stroke risk in hypertensive adults, suggesting that reducing dietary inflammatory load holds preventive potential. Moreover, β-carotene and vitamin A show opposing associations with post-stroke mortality, reflecting the complexity of nutritional inflammation and informing precision nutrition strategies for stroke.

Background: Posterior circulation ischemic stroke (PCS) accounts for up to 25% of all ischemic strokes but remains frequently under-recognized due to atypical symptoms and poor representation in conventional stroke scales. Early diagnosis is critical yet challenging. This study aimed to derive a pragmatic clinical scoring tool, the PCS-SCORE, to identify patients at high risk of PCS based solely on bedside features.

Methods: We retrospectively analyzed 5163 patients from a prospective stroke registry, including 1571 with -confirmed PCS. Key predictors were identified through multivariable logistic regression and lasso modeling. Variables were weighted according to regression coefficients and clinical relevance. The final PCS-SCORE (0-9 points) included: diabetes (1 point), hypertension (1), male sex (1), double/blurred vision (2), vertigo with vomiting (2), and incoordination (2).

Results: At a score threshold >3, the PCS-SCORE achieved an area under the curve (AUC) of 0.76, with 87.9% specificity and 43.4% sensitivity. Raising the threshold to >4 increased specificity to 94.4% (sensitivity 27.9%). Higher scores corresponded with progressively increased likelihood of PCS, enabling confident identification of high-risk patients.

Conclusion: The PCS-SCORE is a simple, highly specific bedside tool for early detection of posterior circulation strokes. Its rule-in strength makes it especially useful in prehospital settings, resource-limited environments, and crowded emergency departments. Prospective validation is ongoing.

Background: Stroke onset demonstrates a circadian pattern, but the relationship between onset time and stroke severity at admission remains insufficiently understood.

Objectives: This study aimed to examine the association between time of stroke onset and admission severity in patients with acute ischemic stroke (AIS), and to determine whether this association varies across clinical subgroups.

Design: A retrospective observational study.

Methods: We conducted a multicenter retrospective cohort study including 14,048 patients diagnosed with AIS and admitted to 36 hospitals in Shenzhen, China, between January 1, 2022, and May 31, 2024. Stroke onset time was classified into 4 periods: Morning (05:00-10:59), Afternoon (11:00-16:59), Evening (17:00-22:59), and Night (23:00-04:59). The primary outcome was neurological severity at admission, measured by the NIHSS score. Associations between onset time and outcomes were evaluated using multivariable ordinal logistic and linear regression models, adjusted for demographic and clinical covariates. Subgroup analyses and sensitivity analyses using multiple imputation were also conducted.

Results: Stroke onset in the Morning was associated with lower NIHSS scores (adjusted odds ratio [aOR] = 0.88; 95% confidence interval [CI]: 0.82-0.94; P < .001) and lower mRS scores (aOR = 0.81; 95% CI: 0.76-0.86; P < .001). In contrast, Night onset was associated with higher NIHSS scores (aOR = 1.20; 95% CI: 1.09-1.32; P < .001) and mRS scores (aOR = 1.25; 95% CI: 1.15-1.37; P < .001). These associations were consistent across strata defined by age and sex, and among patients with hypertension or diabetes. However, the circadian pattern was attenuated in patients with coronary artery disease, dyslipidemia, or atrial fibrillation.

Conclusion: Admission stroke severity follows a circadian pattern, with milder presentations in the Morning and more severe impairments during Night hours. These findings highlight the potential role of circadian biology in stroke pathophysiology and support incorporating time-of-onset considerations into clinical risk stratification and acute management strategies.

Consumer-grade wearables offer promising opportunities for remote patient monitoring (RPM) in neurological disorders, yet their clinical application remains uncertain. In this exploratory analysis, we draw on prospective observational trials using smartwatches in patients with multiple sclerosis, myasthenia gravis, chronic inflammatory demyelinating polyneuropathy, and migraine, who were monitored for 6 to 24 months. Through detailed clinical case narratives, we illustrate both the potential and the limitations of RPM in neurology. Wearable-generated data successfully captured early, clinically meaningful changes, such as the onset of a myasthenic exacerbation, and supported patient engagement in identifying individual triggers, including for migraine. However, external influences such as holidays, infections, or mobility aid use confounded activity signals, underscoring the importance of contextual interpretation. While wearables can enhance neurological care, their integration into clinical workflows is challenged by limited validation and interpretability. Realising their potential requires robust validation in clinical settings and the development of interoperable RPM platforms supported by close collaboration between clinicians, engineers, and patients.

Objectives: Over the past decade, low-intensity transcranial ultrasound stimulation (LITUS) has emerged as a promising non-invasive neuromodulation technique for central nervous system (CNS) disorders. This study aims to chart the current research landscape, uncover key trends and challenges, and offer a reference for future investigations.

Methods: Following PRISMA guidelines, we sourced data from 3 databases and included 454 literature. We conducted bibliometric analyses using R, VOSviewer, and CiteSpace to explore publication trends, journal/region contributions, keyword co-occurrence networks, research clusters, and emerging frontiers.

Results: The United States, China, and South Korea were the most influential countries in the field, while Brain Stimulation was the leading journal. Keyword analysis revealed 7 research clusters, and burst-detection highlighted frontiers such as safety, thalamic stimulation, and frequency. The literature review shows that LITUS is an emerging field with therapeutic promise, but faces challenges in areas like safety and ultrasound parameter standardization.

Conclusion: As the first comprehensive bibliometric and systematic review of LITUS in CNS disorders treatment, this work presents a global picture of publication trends, hotspots, and obstacles-providing valuable guidance for future research and clinical translation of LITUS.

Background and objectives: This study aims to assess whether adult patients with encephalitis from different racial and ethnic backgrounds exhibit significant differences in clinical presentation, diagnostic findings, and outcomes.

Design and methods: A retrospective cohort study was conducted by utilizing the electronic health records of encephalitis patients in the greater Houston and Baltimore areas. Patients were categorized by race/ethnicity into White or ethnic minority (including Black, Hispanic, and Asian patients). Data was analyzed for the presence of significant differences in clinical characteristics between the two groups.

Results: Among 599 patients, 312 (52.1%) were White and 287 (47.9%) were of an ethnic minority. White patients were more often over sixty years-old upon presentation (43.1% vs 23.9%, P < 0.001) and more likely to present with memory deficits (36% vs 26.3%, P = 0.012). Ethnic minority patients more frequently presented with co-existing HIV (20.3% vs 3.4%, P < 0.001), severe organ dysfunction (44% vs 34.4%, P = 0.028), cerebrospinal fluid (CSF) pleocytosis (white blood cell count ≥5 cells/µL) (83.1% vs 69.3%, P < 0.001), and abnormal electroencephalogram (EEG) findings (84.3% vs 71.9%, P = 0.035). Ethnic minority patients also had worse outcomes on the Glasgow Outcome Scale (GOS) as defined by GOS <4 (59.3% vs 47.2%, P = 0.005). Binary logistic regression identified abnormal magnetic resonance imaging (MRI) and Glasgow Coma Scale (GCS) <13 as independent predictors of an adverse clinical outcome (GOS <4) with an adjusted odds ratio [95% confidence interval] (P value) of 1.609 [1.042-2.486] (P = 0.032) and 2.689 [1.675-4.317] (P < .001), respectively.

Conclusion: Ethnic minority patients with encephalitis present at a younger age and are more likely to have co-existing HIV, severe initial organ dysfunction, CSF pleocytosis, abnormal EEG findings, and worse clinical outcomes. Abnormal MRI and GCS <13 are independent predictors of an unfavorable clinical outcome and may aid in risk stratification.