Acta Neurologica Scandinavica最新文献

Background/Aim: Moyamoya disease, a rare cerebrovascular disorder first identified in Japan, is characterised by spontaneous occlusion of the circle of Willis and is a significant cause of ischaemic and haemorrhagic strokes. When associated with autoimmune disorders like antiphospholipid syndrome, it is referred to as moyamoya syndrome. This study reviews the clinical features of moyamoya syndrome in patients with antiphospholipid antibody positivity, with and without antiphospholipid syndrome, focusing on clinical differences, treatments and outcomes.

Methods: To identify relevant studies, a comprehensive systematic literature review search was conducted using the terms ‘Moyamoya’, ‘antiphospholipid’, ‘anticardiolipin antibodies’, ‘anti-beta2-glycoprotein I antibodies’ and ‘lupus anticoagulant’.

Results: Twelve cases of moyamoya syndrome with antiphospholipid antibody positivity were reviewed. Eight met antiphospholipid syndrome criteria with diverse antibody profiles. Treatments included antiplatelet therapy, anticoagulants and bypass surgery. While eight patients experienced no recurrent strokes during follow-up, three had recurrent strokes, and two died from haemorrhagic events. Individualised management was crucial for balancing treatment benefits and risks.

Discussion: Moyamoya disease involves internal carotid artery stenoses, also seen in antiphospholipid syndrome. While the connection between moyamoya disease and antiphospholipid antibody positivity remains unclear, antiphospholipid syndrome should be ruled out during diagnosis. Surgical treatments are less frequent in antiphospholipid antibody-positive patients than in general moyamoya disease. Recurrent cerebrovascular events under medical treatment highlight the potential need for broader surgical interventions in these patients.

Conclusion: The limited number of reported cases restricts the generalisability of the current findings and calls for cautious interpretation. This underlines the need for further multicentre studies and randomised trials to optimise therapeutic strategies, elucidate the role of antiphospholipid antibodies and establish evidence-based guidelines for the management of moyamoya syndrome and its variants.

Introduction: Ocrelizumab (OCR) and rituximab (RTX) are monoclonal antibodies targeting CD20 on B cells, a promising approach for relapsing–remitting multiple sclerosis (RRMS) and primary progressive MS (PPMS). They aim to modulate the immune system and reduce B cells, potentially leading to fewer relapses and delayed disease progression. Xacrel, the Iranian-made OCR biosimilar, requires further investigation for its effectiveness in MS treatment. The Timed 25-Foot Walk (T25FW) has been one of the key implements for assessing mobility in MS patients for over two decades, and recent studies confirmed that comprehensive treatment—especially with fampridine and OCR—significantly improves T25FW performance.

Objective: We aim to assess the effectiveness of Xacrel (Iranian OCR) for MS treatment by evaluating alteration in Expanded Disability Status Scale (EDSS) score and T25FW test. This study also explores the potential benefits of switching patients’ drug from RTX to OCR.

Material and Methods: This prospective cohort study at Qaem Hospital (February 2022–May 2024) on 143 MS patients evaluates Xacrel in MS patients using EDSS and T25FW scores before treatment and at 6 and 12 months posttreatment. Additionally, we assessed 29 MS patients whose drug transitioned from RTX to OCR to compare the effectiveness of these treatments. For this purpose, MS progression was assessed using the EDSS score and T25FW test at baseline, 6 months, and 12 months after switching their medication.

Results: In our study, the average age was 38.48 ± 8.73 years, and over 70% were women. 76.2% were between 30–50 years old, with a mean disease duration of 6 years. About 19.6% were treatment-naive, with dimethyl fumarate as the most common first-line drug. Over 12 months, significant declines in EDSS scores and increases in T25FW tests were noted at 6 and 12 months compared to baseline (all p < 0.05), but not between 6 and 12 months. Significant factors were RRMS for 6-month EDSS score changes (p = 0.011) and treatment-naive patients for T25FW at 6 months (p = 0.018) and 12 months (p = 0.004). Switching from RTX to OCR showed no significant changes in EDSS or T25FW scores, despite trends of decreases in EDSS and increases in T25FW times at 6 and 12 months. Subgroup analyses by gender, age, disease duration, type, and previous medication history showed no significant differences.

Conclusion: In MS patients—particularly treatment-naive individuals and those with RRMS—Xacrel (an Iranian-produced biosimilar of OCR) effectively inhibited EDSS progression, significantly reduced EDSS scores, and enhanced T25FW performance. In contrast, switching from RTX to Xacrel did not result in significant changes in mobility outcomes or disability status.

Introduction: Patients with Parkinson’s disease (PD) show impairments of motor and perceptual learning; however, their abilities to apply and generalize skills learned in one condition to new situations (learning transfer) remain unclear. Herein, we investigated motor and perceptual learning transfer abilities and their underlying neural substrates in patients with PD.

Materials and Methods: Forty-four patients with PD and 42 healthy controls (NCs) were investigated. Motor learning transfer ability (MLTA) and perceptual learning transfer ability (PLTA) were assessed immediately after learning (i.e., in the early phase) and were defined, respectively, as the ability to adapt to angle changes in a reaching task with rotation perturbation and to adapt to domain changes during a categorization task. Additionally, late-phase retention of motor learning and transfer performance were evaluated the day after the early-phase assessment.

Results: MLTA and PLTA in the early phase, as well as retention and transfer performance of motor learning in the late phase, were more impaired in patients with PD than in NCs. In the early phase, the MLTA score was significantly positively correlated with the PLTA score and the number of categories correctly answered in the Modified Card Sorting Test (MCST_categories) in patients with PD. In the late phase, the transfer performance of motor learning was significantly positively associated with the degree of motor learning retention. The MLTA score, PLTA score, and MCST_categories value were all positively correlated with blood flow in the right inferior parietal lobule (IPL).

Discussion: Dysfunction of the right IPL region in patients with PD may be associated with impairments in early-phase motor and perceptual learning transfer, as well as poor MCST performance. Furthermore, late-phase motor learning transfer performance may depend on long-term (24 h) motor learning retention.

Objective: This study is aimed at developing a differential diagnostic model for Guillain–Barré syndrome (GBS) from other central nervous system diseases based on clinical and laboratory indicators.

Materials and Methods: A retrospective approach was conducted for the GBS patients and patients with other neurological diseases (non-GBS group, including viral encephalitis, peripheral neuropathy, multiple sclerosis, transverse myelitis, neuromyelitis optica spectrum disorders, and myasthenia gravis). The least absolute shrinkage and selection operator (LASSO) technique was integrated with multivariable logistic regression to perform predictor selection. The logistic regression model was established as the predictive framework, followed by the application of the Shapley additive explanation (SHAP) framework to quantify contributions of selected variables within the model. After that, patient data were collected for model validation.

Results: A total of 161 patients with GBS and 644 patients with non-GBS diseases were enrolled. Upper limb weakness, visual impairment, areflexia, hyperreflexia, total bilirubin (TBIL), mean corpusular hemoglobin (MCH), platelet large cell ratio (P-LCR), cerebral spinal fluid–protein (CSF-protein), dyslipidemia index, and oligoclonal band-serum/cerebral spinal fluid (SOB-CSF) emerged as independent predictors of GBS development. The logistic regression classifier demonstrated robust predictive performance, achieving an area under the curve (AUC) of 0.915 in the testing set, with an accuracy of 0.876, sensitivity of 0.823, and specificity of 0.889.

Conclusion: We developed and validated a logistic regression model incorporating multiple clinical indicators to differentiate GBS from other inflammatory neurological disorders (including MS, NMOSD, MG, TM, VE, and PN). The model demonstrated high diagnostic accuracy (AUC 0.92), supporting its potential as a supplementary tool for clinical decision-making.

Aim: This study is aimed at determining the prevalence of patients with Type 2 diabetes mellitus (T2DM) affected by abnormal ventricular enlargement (normal pressure hydrocephalus).

Materials and Methods: Data were collected on diabetic patients from an outpatient diabetology clinic and nondiabetic patients who underwent brain CT or MRI, including sex, age, diabetes onset date, fasting blood glucose, HbA1c, Evans Index, and the time between diabetes diagnosis and neuroimaging. The metabolic profile was assessed by BMI, blood pressure, waist circumference, glomerular filtration rate, total cholesterol, LDL, HDL, and triglycerides. The use of ongoing therapies was recorded and categorized by drug class. Common comorbidities, such as ischemic heart disease, diabetic retinopathy, renal failure, and carotid atherosclerosis, were also documented.

Results: Neuroradiological data were available for 272 diabetic patients (mean age: 71.6 ± 11.2 years) and 275 nondiabetic patients (mean age: 70.4 ± 12.5 years). Pathological ventricular enlargement was identified in 116 of 547 individuals (21%), with a higher prevalence among males (68%; p = 0.002). Ventricular enlargement was noted in 25% of diabetic patients and 17.1% of nondiabetic patients (p = 0.02). Diabetic patients with ventricular enlargement were significantly older (mean age: 76.9 years vs. 69.4 years) than those without enlargement (p = 0.01). The duration of diabetes was also significantly longer in patients with enlargement (mean: 16.5 years) compared to those without (p = 0.009). Age, male sex, longer diabetes duration, history of ischemic heart disease, beta-blocker use, and antiplatelet therapy were significantly associated with a pathological Evans Index. In multivariate analysis, antiplatelet therapy was the strongest predictor of abnormal ventricular enlargement in T2DM patients after adjusting for confounding factors (p = 0.01).

Conclusion: There is a high prevalence of pathological ventricular enlargement in patients with T2DM. Advanced age, male sex, longer disease duration, and the use of antiplatelet therapy are significantly associated with abnormal ventricular enlargement.

Objectives: The study’s objective is to assess long-term experience with rechargeable (r-IPG) and nonrechargeable implant pulse generators (nr-IPGs) for deep brain stimulation (DBS) in Parkinson’s disease (PD).

Material and Methods: Qualitative semistructured interviews, clinical outcomes, and care load estimations were retrospectively collected for a PD-DBS population implanted at our center from 2006 to 2022.

Results: Thirty-seven nr-IPG patients (follow-up 85.3 ± 32.0 months) and 43 r-IPG patients (follow-up 73.1 ± 7.7 months) were analyzed. Long-term satisfaction was sustained in both groups (100% of r-IPG carriers and 75.7% of nr-IPGs, p = 0.001). In r-IPGs, 97.7% recharged the battery easily, and recharging time did not impact everyday life. The percentage of malfunctioning problems (32.6%) in the r-IPG group was in line with previous observations on short-term follow-ups. The size of the IPG was considered too big for 16.2% and 4.2% for nr-IPGs and r-IPGs (p = 0.086), and concerns of interventions for IPG replacements were still present in the nr-IPG group (48.6%). The total amount of days of hospitalization (19.6 ± 9.9 vs. 9.3 ± 4.8, p < 0.001) and the number of complications after the first implant (13 vs. 5, p < 0.05) and during subsequent admissions for IPG substitutions (4 vs. 0, p < 0.05) were higher for the nr-IPGs.

Conclusions: The overall level of long-term satisfaction with IPGs is consistent over time regardless of type. R-IPGs reported no discomfort with recharging even in the long-term evaluation. IPG replacement surgeries and sizes are still a concern, especially for the nr-IPG carriers, but did not affect a high level of sustained satisfaction. Resource burden remains higher for nr-IPGs even in the long term.

Background: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy in humans. It is characterized by paresthesias in the median nerve (MN) area, distal to the carpal tunnel (CT). It is more common in middle-aged women. Its incidence increases with repetitive manual activity and obesity, although its ultimate etiology is not well known. Our aim was to determine the ultrasound anatomical dimensions of the proximal CT entrance and their relationship with sex, age, anthropometric data, MN, and the presence or absence of CTS and to assess their possible etiological role in this neuropathy.

Methods: We analyzed the anatomical measurements of the proximal entrance of 793 CTs using ultrasound—height, width, and ellipsoid area—in patients with CTS (578) and in healthy subjects (215). We also analyzed their relationships with age, sex, height, weight, dominant hand, and degree of nerve involvement.

Results: The three anatomical variables studied at the proximal entrance of the CT were height (12.63 ± 1.44 mm), width (22.06 ± 2.01 mm), and ellipsoid area (173 ± 22 mm²). All three measurements studied were higher in cases than in controls and in male than in female. Height and area were strongly associated with the degree of MN involvement.

Conclusions: These results suggest that the proximal CT entrance is a site of adaptability rather than the site of greatest biomechanical stress within the CT in the pathophysiology of CTS.

This study is aimed at determining the characteristics of access to diagnosis and treatment of autoimmune encephalitis (AE) in hospitals in Latin America and the Caribbean. The descriptive, prospective, and multicenter study was conducted from October to November 2023. Categorical variables were presented as frequencies and percentages in the descriptive analysis, whereas measures of central tendency and dispersion were shown for quantitative data. A distribution map was created based on the number of participating countries. A total of 108 doctors from 19 Latin America and the Caribbean participated, and participants’ median age and years of medical practice were 40 and 13 years, respectively. Regarding specialties, individuals who responded the most to the survey were general intensivists (31.5%), neurologists (28.7%), and neurointensivists (17.6%). There were significant limitations in access to diagnostic methods (resonance, antibody testing, and electroencephalogram), absence of institutional protocols, potential high out-of-pocket costs in financing antibody tests, and low patient follow-up. Heterogeneous diagnostic strategies and therapeutic approaches were found in the countries evaluated, and there was acceptable access to first-line immunotherapy and anticrisis. This first multinational study addressing the existing limitations in Latin America and the Caribbean for treating patients with AE revealed great difficulties and possible inequities. It is important to conduct multidisciplinary collaborations to increase awareness of this disease among decision-makers, clinicians, and investors to reduce its negative impact on the well-being and productivity of affected populations.

Background: Ataxia, characterized by incoordination of movement, presents a diverse etiological spectrum, including genetic forms such as spinocerebellar ataxias (SCAs), Friedreich’s ataxia (FRDA), and other hereditary ataxias. Identifying and understanding the distribution of the genetic subtypes in specific populations are crucial for clinical management, genetic counseling, and prognostication.

Objective: This study is aimed at investigating the genetic epidemiology of hereditary ataxias in a clinical cohort from Eastern Denmark, focusing on the prevalence and distribution of the genetic ataxias.

Methods: We conducted a chart review of 297 patients diagnosed with ataxia from the two major referral centers in Eastern Denmark between 2018 and 2023. Diagnoses were divided into groups: confirmed genetic ataxia, presumed genetic ataxia (no genetic variant identified, positive family history) and possible genetic ataxia (debut before the age of 40, no family history), sporadic adult-onset ataxia (SAOA) (debut after the age of 40, no family history), and multiple system atrophy–cerebellar type (MSA-C)). Data collected included demographics, clinical features, age of onset, and results of genetic testing.

Results: Of the 297 patients, 144 (48.5%) had a confirmed genetic ataxia, 26 (8.8%) were classified as presumed genetic ataxia, and 19 (6.4%) were categorized as possible genetic ataxia. The most common subtypes were SCA6, SCA2, and SCA3. The study revealed notable differences in the prevalence of specific ataxia subtypes compared to global patterns.

Conclusion: This study provides an overview of the epidemiology and genetic landscape of hereditary ataxias in Denmark. The high prevalence of SCA6 and unique distribution patterns emphasizes the need for population-specific data to guide clinical practice. Ongoing trials for SCA1 and SCA3 highlight the importance of understanding the epidemiology of ataxias across different countries to establish trial-ready cohorts and address future treatment needs.

Background: Cluster headache (CH) is the most prevalent trigeminal-autonomic cephalalgia. Research evidence supports the hypothesized involvement of the posterior hypothalamus, the trigeminal-vascular system, and other central pain-processing regions in the pathogenesis of pain. Because of the role of the hypothalamus, CH patients should be at greater risk of developing an altered emotional response. Impulsivity is associated with depression, bipolar disorders, suicide attempts, and addictive disorders, which can be frequent in CH.

Objective: Our objective is to evaluate the prevalence of impulsivity in CH patients.

Methods: This is a cross-sectional observational study. Barratt Impulsiveness Scale (BIS-11) was administered to evaluate impulsivity.

Results: Fifty CH patients outside the bout and 60 matched controls were included. Patients were recruited from an outpatient headache unit. The percentage of episodic CH patients with a diagnosis of impulsivity (BIS-11 ≥ 73) was 14.2% compared to 1.6% in the control group (p = 0.02). The mean score on the BIS-11 was 58.5 (SD: 14.3) in the case group and 57.1 (SD: 9.2) in the control group. Although the global score on the scale did not differ between both groups, there were differences in cognitive (16.2 [SD: 4.4] vs. 14.5 [SD: 3.5]; p = 0.01) but not in motor and nonplanning impulsivity.

Conclusion: Our findings suggest that CH patients have greater cognitive impulsivity. If impulsivity plays an important role in the risk of suicide and substance use disorders, early detection and an effective multidisciplinary management could reduce CH-related burden and impact.