Neurological Sciences最新文献

Background: Botulinum toxin (BoNT) is first-line therapy for cervical dystonia (CD), yet treatment response is heterogeneous. Patient-centered outcomes may be better captured by Goal Attainment Scaling (GAS) than by examiner-rated motor scales. We aimed to identify clinical factors influencing BoNT response in CD using GAS.

Methods: We conducted a retrospective two-center study including adults with CD treated with BoNT between January 2011 and August 2025. Treatment response was assessed using GAS T-scores. The primary outcome was achieving GAS ≥ 50 after the first session; the secondary outcome was achieving GAS > 50 in at least one session during follow-up.

Results: Eighty-seven patients were included (74.7% female; median age 68 years; median follow-up 4 years). Patients with focal cervical dystonia were significantly more likely to achieve a GAS score ≥ 50 after the first treatment session than those with non-focal forms (segmental, multifocal, or generalized dystonia; OR 5.667; 95% CI 1.853-17.326; p = 0.001). Failure to achieve a GAS score > 50 was significantly associated with the presence of other neurological disorders (OR 0.284; p = 0.020) or concomitant movement disorders (OR 0.211; p = 0.010). Ultrasound guidance was not associated with higher GAS scores.

Conclusion: Focal dystonia and absence of neurological comorbidities were associated with better BoNT response. Ultrasound guidance did not confer measurable benefit in this real-world cohort. GAS may support individualized treatment evaluation in CD.

Background: Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by motor symptoms in addition to non-motor symptoms that significantly impact the quality of life. While levodopa remains the gold standard for PD treatment, chronic use is associated with motor complications, including the "wearing-off" phenomenon and dyskinesia. IPX203, a novel extended-release carbidopa-levodopa (CD-LD) formulation, combines immediate-release granules with extended-release effects to maintain therapeutic plasma levels longer, potentially improving motor symptom management for PD patients.

Methods: A computer literature search of PubMed, Scopus, Web of Science, Google Scholar, and Cochrane Library was conducted using relevant keywords. Records were screened for eligible studies and data were extracted and synthesized using Review Manager version 4.5 for Windows. Sensitivity analysis was conducted to investigate the efficacy of IPX203 against IR CD-LD.

Results: Four RCTs with a total of 712 patients were eligible for the final analysis. The mean difference (MD) of change in the main outcomes from baseline to endpoint favored IPX203 over IR CD-LD (UPDRS) (MD = -6.80, 95% CI: [-9.38, -4.23]; p < 0.00001). change in the off time favored IPX203 over IR CD-LD after sensitivity analysis (MD = -2.42, 95% CI: [-3.12, -1.71]; P < 0.00001). The mean difference (MD) of change in the " good on" time favored IPX203 over IR CD-LD after sensitivity analysis (MD = 2.15, 95% CI: [1.45, 2.86]; P < 0.00001). None of the adverse events were significantly higher in the case of IPX203 compared to IR CD-LD.

Conclusion: IPX203 shows a significant potential in improving motor functions, reducing "off" time while increasing "good on" time. This makes IPX203 a valuable addition to current PD treatment strategies.

Objective: Epidemiological studies have suggested that single nucleotide polymorphisms (SNPs) in the interleukin-10 (IL-10) gene may contribute to the etiology of multiple sclerosis (MS). However, the results to date have been inconsistent, even contradictory.

Methods: A meta-analysis was conducted to investigate the potential association between IL-10 SNPs and MS susceptibility. Five English-language databases (PubMed, Embase, Web of Science, CNKI, and Wanfang) were searched for relevant studies. Crude odds ratios (OR) and 95% confidence intervals (CI) were calculated to assess the relationship between IL-10-1082 A > G (rs1800896), -819T > C (rs1800871), -592 A > C (rs1800872) polymorphisms, their haplotypes, and MS susceptibility. Publication bias, sensitivity analyses, and cumulative analyses were performed to evaluate the robustness and reliability of the findings.

Results: Fourteen articles (30 independent case-control studies) were included, revealing significant associations between the - 1082 A > G polymorphism and MS susceptibility in the general population (G vs. A: OR = 1.14, 95%CI = 1.05-1.24, P = 0.002, I² = 18.6%; AG vs. AA: OR = 1.32, 95%CI = 1.15-1.52, P < 0.001, I² = 36.1%; GG vs. AA: OR = 1.30, 95%CI = 1.10-1.55, P = 0.003, I² = 25.0%; AG + GG vs. AA: OR = 1.31, 95%CI = 1.15-1.49, P < 0.001, I² = 35.8%) and several subgroup models. Furthermore, the mutant GCC haplotype also exhibited a significant risk on MS susceptibility.

Conclusion: In summary, this current meta-analysis suggested that the IL-10 gene polymorphisms may be the substantial factors for the development of MS.

Introduction: Reperfusion Treatment(RT) options for Acute Ischemic Stroke(AIS) within 24 hours include: intravenous thrombolysis(IVT)(within 4.5 hours) and/or mechanical thrombectomy(MT). The utilization of benefits in 'real world' scenario, especially in Lower-Middle Income countries(LMICs) is not known. We aimed to determine the 'real-world' utilization and effectiveness of RT.

Patients and methods: In a single-center prospective cohort study, we collected data of all AIS patients coming within 24 hours. Patients receiving RT(IVT/MT/both) and those who were ineligible and received medical management (MM) were compared for the clinical, radiological characteristics and outcomes at 90-days assessed by modified Rankin Scale (mRS). The secondary outcomes were poor outcome at 90 days(mRS 3-6), Barthel Index(BI), Caregiver Strain Index(CSI), Stroke Specific Quality of Life(SSQoL) and mortality.

Results: In the study period (January 2022-September 2023), there were 302 patients. The mean age was 55.9(SD:15.7) years and majority were males (64.9%). Patients who underwent RT (42.7%(129/302)) had similar clinical characteristics, except for lesser time to presentation, better Glasgow Coma Scale(GCS), and better median ASPECTS. IVT was given to 33.4%(101/302) and MT in 14.6%(44/302). The mRS at 90-days was significantly better in the RT group (RT:1(0;3), MM:3(1;5);P <0.001). RT was an independent protective factor (OR: 0.3(0.2;0.4); p-value:<0.001) for worse outcome (mRS 3-6). Other factors associated with mRS 3-6 at 90-days in multivariate analysis were high NIHSS and low ASPECTS at presentation.

Conclusions: RT is feasible and effective in LMICs. Since the burden of stroke is increasing in LMICs and mean age of stroke is lower, post-stroke disability prevention by RT is an important intervention.

Background: Lesbian, gay, bisexual, transgender and queer (LGBTQ) persons may be defined under the umbrella term sexual and gender minorities (SGM). SGM often experience disparities in access to care negatively impacting their health outcomes. Aim of the study was to assess knowledge, attitude and practical experience of neurologists associated with European Academy of Neurology (EAN) in caring for SGM patients.

Materials and methods: The study has been conducted amongst EAN neurologists using a 29 Likert-type questions survey (from "strongly disagree" to "strongly agree") exploring the knowledge, attitudes and practices towards SGM patients. The survey was distributed via mail to all 3410 EAN members, from June to October 2024.

Results: Overall, 171 respondents gave the consent to participate, with almost 73% responding to each question. 133 out of 171 respondents declared their sex assigned at birth (76 women, 57.1%; mean age 43.2 ± 13.0 years). Considering knowledge, almost 75% felt comfortable explaining differences between sexual orientation and gender identity. A low percentage (2.9% and 6.4%, respectively), was aware that LGBTQ individuals could experience disproportionate levels of physical and mental health problems compared to heterosexual and cisgender individuals. A large majority of participants reported insufficient training to work with LGBTQ and almost 70% declared interest in receiving further training on providing appropriate care to SGM persons.

Conclusion: Most of the European neurologists were aware of the limits in providing healthcare to SGM recognizing the importance of training and education in approach and treat SGM patients in order to provide high-quality neurological care.

Introduction: Linked to motor control, cerebellum is increasingly recognized for its role in cognition and neurodegenerative disorders.

Methods: This retrospective study investigates associations between cerebellar volumes and cognitive screening tools-the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA)-in individuals with mild cognitive impairment (MCI) or mild dementia.

Results: MoCA scores showed significant positive correlations with cognitive-related cerebellar regions, particularly the left Crus I lobule (r = 0.40, p = 0.02) and total Crus I volume (r = 0.36, p = 0.04). Regression analysis confirmed associations with the left Crus I (β = 0.08, p = 0.02) and right VIIB lobule (β = 0.033, p = 0.032), while MMSE scores correlated only with right Lobule X thickness (r = -0.35, p = 0.04).

Discussion: These findings suggest MoCA may better detect cerebellar-related cognitive impairments, underscoring the importance of including cerebellar evaluation in the early diagnosis of dementia.

Background: 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants in the MTHFR gene. Although clinical heterogeneity is well recognized, the condition rarely presents as spastic paraplegia with onset in adulthood. We report a case associated with two novel MTHFR pathogenic variants manifesting this clinical phenotype.

Methods: We describe a 45-year-old Chinese man who developed a spastic gait at age 38, followed by lower limb weakness at age 43. Brain magnetic resonance imaging revealed mild leukoencephalopathy. Laboratory tests identified severe hyperhomocysteinemia. Whole-exome sequencing was performed with screening of genes associated with hereditary spastic paraplegia. Furthermore, a comprehensive literature review was conducted, including all adult-onset cases with detailed clinical and genetic information available up to October 2025.

Results: Genetic analysis identified three MTHFR variants: c.891T > A (p.Tyr297Ter), c.1916 C > T (p.Thr639Ile), and c.665 C > T (p.Ala222Val). A total of 28 patients from 17 families were identified through the literature review.

Conclusion: This study expands the spectrum of pathogenic MTHFR variants and highlights the phenotypic heterogeneity of the disorder. MTHFR deficiency represents a rare yet treatable metabolic cause of spastic paraplegia and should be considered in its diagnostic workup.