BMC Neurology[JOURNAL]
Sun
200 papers
Third ventricle non-Hodgkin lymphoma: An unusual presentation of primary central nervous system lymphoma.
Uthayasuriyan N, Gowthaman SR, Pachiyappan JS … +2 more , Damodaran AC, Ali MNH
BMC Neurol · 2026 Jun · PMID 42316069 · Full text
INTRODUCTION: Primary central nervous system lymphoma (PCNSL) is a rare extra-nodal non-Hodgkin lymphoma that most commonly involves the cerebral parenchyma. Isolated intraventricular involvement is uncommon, and primary...
INTRODUCTION: Primary central nervous system lymphoma (PCNSL) is a rare extra-nodal non-Hodgkin lymphoma that most commonly involves the cerebral parenchyma. Isolated intraventricular involvement is uncommon, and primary localisation to the third ventricle is exceedingly rare, posing significant diagnostic and therapeutic challenges for clinicians. CASE REPORT: A 58-year-old immunocompetent man presented with progressive headache, vomiting, and cognitive decline. Neuroimaging revealed a well-defined, homogeneously enhancing lesion involving the foramen of Monro and the roof of the third ventricle, with associated ventricular obstruction. Differential diagnoses included colloid cyst, central neurocytoma, and glioma. An interhemispheric transcallosal approach was used for the biopsy. Histopathology and immunohistochemistry confirmed diffuse large B-cell lymphoma (CD20 positive, CD45 positive, and Ki-67 index 55-60%). The patient had a stormy postoperative period complicated by dyselectrolytemia and pulmonary embolism and succumbed despite aggressive supportive management. CONCLUSION: Primary CNS lymphoma presenting as an isolated third ventricular lesion is extremely rare and often radiologically mimics other intraventricular tumours. Histopathological confirmation is mandatory before initiating oncological therapy. Surgical intervention should be limited to biopsy if lymphoma is highly suspected, with cerebrospinal fluid diversion when required. Awareness of this rare tumour is essential to avoid unnecessary aggressive resections and to facilitate early initiation of chemotherapy.
The relationship between inflammatory markers and the severity and prognosis of neurological dysfunction in stroke patients.
Zhang X, Li L, Lin Q … +4 more , Xiao Y, Dong Y, Tao X, Wang Y
BMC Neurol · 2026 Jun · PMID 42316059 · Full text
BACKGROUND: The aim of this study is to explore the relationship of inflammatory indicators with the severity and prognosis of neurological dysfunction in stroke patients, and to evaluate the prognostic value of inflamma...
BACKGROUND: The aim of this study is to explore the relationship of inflammatory indicators with the severity and prognosis of neurological dysfunction in stroke patients, and to evaluate the prognostic value of inflammatory indicators for patients suffering from acute ischemic stroke (AIS). METHODS: The study recruited 225 AIS patients and 46 healthy individuals, and collected their clinical data and hematological indicators. Calculate six inflammatory markers and evaluate the National Institutes of Health Stroke Scale (NIHSS) and Modified Rankin Scale (mRS) scores at admission, discharge, 1 months of onset and 3 months of onset. Correlation analysis, multivariate logistic regression analyses, the receiver operating characteristic (ROC) curve and the area under the curve (AUC) were used to analyze the relationship of inflammatory markers with the severity and prognosis of stroke. RESULTS: Elevated levels of neutrophil to lymphocyte ratio (NLR), systemic immune-inflammation index (SII), systemic inflammatory response index (SIRI), and pan immune-inflammation value (PIV) were observed in patients at admission (p < 0.05). Most inflammatory markers are positively correlated with the severity of neurological deficits during the acute phase, especially upon admission and discharge. Higher admission lymphocyte to monocyte ratio (LMR) levels are independently associated with larger infarct volume and adverse functional outcomes. In contrast, indicators like NLR, SIRI and PIV showed associations in the opposite direction (odds ratios < 1), suggesting complex interactions that require further investigation. For different time points, NLR showed the greatest prognostic value at admission (AUC = 0.654) and PIV at discharge (AUC = 0.725). CONCLUSIONS: These inflammatory markers exhibit characteristic dynamic changes after AIS and have close relationship with the severity and prognosis of neurological deficits. It may contribute to early risk stratification and personalized treatment soon after.
Development and validation of a diagnostic model for mild cognitive impairment in patients with type 2 diabetes mellitus and concomitant white matter hyperintensities.
Wang B, Pan R, Yan Q … +5 more , Yao Y, Wang Y, Li X, Li M, Zhao Y
BMC Neurol · 2026 Jun · PMID 42316055 · Full text
BACKGROUND: To construct and validate a nomogram model that effectively discriminates mild cognitive impairment (MCI) from normal cognition in patients with type 2 diabetes mellitus (T2DM) and concomitant white matter hy...
BACKGROUND: To construct and validate a nomogram model that effectively discriminates mild cognitive impairment (MCI) from normal cognition in patients with type 2 diabetes mellitus (T2DM) and concomitant white matter hyperintensities (WMH). METHODS: This single‑center cross-sectional study included 1,175 consecutive T2DM patients with WMH from Cangzhou Central Hospital (January 2020 - December 2025), randomly assigned to a training cohort (n = 823) and a validation cohort (n = 352) in a 7:3 ratio. LASSO regression and multivariable logistic regression with four adjustment models were used to select associated variables. A nomogram was constructed and evaluated by receiver operating characteristic curves (ROC), calibration plots, and decision curve analysis (DCA). RESULTS: Eight independent associated variables were identified: C-peptide, HbA1c, mean amplitude of glycemic excursions (MAGE), coefficient of variation (CV), time in range (TIR), Fazekas scale, weight-adjusted waist index (WWI), and urinary albumin-to-creatinine ratio (UACR). The nomogram showed good discrimination in the training cohort [area under the curve (AUC) = 0.813, 95%CI 0.782-0.843] and validation cohort (AUC = 0.773, 95%CI 0.720-0.827). Calibration was excellent (training: intercept 0.00, slope 1.00; Hosmer-Lemeshow P = 0.317; validation: intercept 0.13, slope 0.90; P = 0.432). DCA confirmed clinical net benefit. CONCLUSION: This novel nomogram, incorporating glycemic variability, central obesity, insulin resistance, renal-vascular injury, and WMH burden, accurately discriminates the presence of MCI in T2DM patients with WMH, offering a practical tool for early risk stratification and intervention.
Screening for undiagnosed obstructive sleep apnea in patients with acute stroke or TIA.
Hovden ET, Kielland WE, Bruun S … +4 more , Holmvik S, Ildstad F, Idicula T, Shirzadi M
BMC Neurol · 2026 Jun · PMID 42310603 · Full text
BACKGROUND: Obstructive sleep apnea (OSA) is a prevalent and potentially modifiable risk factor for stroke but remains underdiagnosed in clinical practice. Simple screening tools such as the STOP-Bang questionnaire and t...
BACKGROUND: Obstructive sleep apnea (OSA) is a prevalent and potentially modifiable risk factor for stroke but remains underdiagnosed in clinical practice. Simple screening tools such as the STOP-Bang questionnaire and the Epworth Sleepiness Scale (ESS) may facilitate identification of individuals at risk. However, data on pre-stroke OSA-related symptoms and the utility of these screening tools in acute stroke populations remain limited. METHODS: In this prospective observational study, 124 patients admitted with acute ischemic stroke or transient ischemic attack (TIA) at St. Olavs Hospital, Norway, between April 2023 and January 2026 were included. Excessive daytime sleepiness and risk of OSA prior to the index event were assessed retrospectively using the ESS and the STOP-Bang questionnaire during hospitalization, with most patients evaluated within the first three days after admission. Additional information about risk factors and stroke etiology was extracted from medical records. RESULTS: The mean STOP-Bang score was 3.2, and 65.3% of patients were classified as having intermediate or high risk of OSA. The mean ESS score was 6.5, with 13.7% meeting criteria for excessive daytime sleepiness (ESS ≥ 11). In adjusted regression analyses, higher STOP-Bang scores were associated with higher ESS scores (β = 0.67, p = 0.004), and most patients with elevated STOP-Bang scores did not report excessive daytime sleepiness. CONCLUSIONS: A substantial proportion of patients with ischemic stroke or TIA have a previously unrecognized risk of OSA, while excessive daytime sleepiness is relatively uncommon. STOP-Bang and ESS appear to capture different aspects of sleep-disordered breathing and sleep-related symptoms. STOP-Bang identified a larger proportion of patients at risk of OSA, whereas ESS provided complementary information on subjective daytime sleepiness. Routine screening for OSA symptoms may improve identification of modifiable risk factors relevant for stroke prevention.
Post-meal loss of consciousness in an adult patient with carbamoyl phosphate synthetase 1 deficiency and two newly identified heterozygous variants: a case report.
Ye J, Al-Nusaif M, Yang J … +4 more , Lu Z, Xie S, Lai Z, Lai J
BMC Neurol · 2026 Jun · PMID 42310598 · Full text
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder characterized by urea cycle dysfunction and secondary hyperammonemia. Although primarily observed in neonates, adult...
BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive disorder characterized by urea cycle dysfunction and secondary hyperammonemia. Although primarily observed in neonates, adult cases are exceedingly rare and warrant reporting due to their novelty and potential for misdiagnosis. We present a case of a 34-year-old male who presented with post-meal loss of consciousness, a symptom atypical of the disease's usual manifestation. CASE PRESENTATION: A 34-year-old man was admitted with a 2-day history of general fatigue that escalated to unconsciousness over half a day. He also experienced vomiting, bilateral limb convulsions, and a history of epilepsy. Upon admission, he exhibited coma with a Glasgow Coma Scale score of 5/15. Biochemical investigations revealed normal liver and kidney function but a significantly elevated blood ammonia concentration of 597.6 µmol/L. Cranial imaging showed diffuse swelling of the brain parenchyma indicative of encephalopathy. Gene sequencing identified three heterozygous variants in theCPS1 gene, including two novel variants sites. Despite ammonia-lowering treatments, his condition rapidly deteriorated, and he succumbed to hyperammonemia-induced encephalopathy on day 9 of admission. CONCLUSIONS: This case highlights the importance of recognizing CPS1D as a potential diagnosis in adults presenting with neurological symptoms, particularly those involving consciousness changes. The rarity and atypical presentation of adult CPS1D underscore the need for early diagnosis through comprehensive evaluation, including blood ammonia measurement and genetic analysis. This case expands the spectrum of clinical manifestations and genetic variants associated with CPS1D and emphasizes the urgency of ammonia-lowering therapy and consideration for liver transplantation in eligible patients.
The use of routinely collected structural neuroimaging to identify cognitive impairment in multiple sclerosis.
Jardine RE, Kuznetsova V, D'Aprano F … +3 more , Kalinicik T, Roberts S, Malpas CB
BMC Neurol · 2026 Jun · PMID 42310592 · Full text
BACKGROUND: Cognitive impairment is common in multiple sclerosis (MS), yet comprehensive cognitive assessment is not universally accessible, and patients need to be triaged for referral. Given the links between brain atr...
BACKGROUND: Cognitive impairment is common in multiple sclerosis (MS), yet comprehensive cognitive assessment is not universally accessible, and patients need to be triaged for referral. Given the links between brain atrophy and cognition, this study investigated whether routinely collected neuroimaging markers could identify MS patients at risk of cognitive impairment. METHODS: Data were retrospectively analysed from adult MS patients assessed in a specialist cognitive neuroimmunology clinic, who had undergone MRI within 12 months prior to cognitive testing. Normalised brain volume (NBV), normalised grey matter volume (NGMV), normalised white matter volume (NWMV), and corpus callosum index (CCI) were measured using the Siemens MorphoBox automated software. GLMs were estimated to investigate group differences in brain volume metrics between cognitively impaired and non-impaired patients. ROC curves were estimated to investigate screening performance for neuroimaging metrics (Youden's J). Results are expressed as parameter estimates with 95% bootstrapped confidence intervals (CI). RESULTS: 120 patients were included (35% cognitively impaired). Cognitively impaired patients had lower NBV (b = - 2.06, 95% CI [- 3.35, - 0.81]) and NWMV (b = - 1.65, 95% CI [- 2.60, - 0.77]). NWMV (area under the curve [AUC] = 0.67, 95% CI [0.57, 0.76]) and CCI (AUC = 0.62, 95% CI [0.51, 0.72]) classified impairment, although sensitivity was low (< 0.70). No clear associations or sufficient classification performance were observed for NGMV. Diagnostic performance improved when neuroimaging markers were statistically combined with relevant demographic information. CONCLUSION: The present study did not find strong evidence supporting routinely collected neuroimaging as standalone cognitive screening tools. Classification performance improved when combined with demographic factors, but remained below thresholds for clinical utility. These findings highlight a gap between group-level associations reported in the literature and their translation to individual-level clinical application.
Mid-to-late-life social network size and resilience to neurodegeneration: The Framingham Heart Study.
Ho K, Hwang PH
BMC Neurol · 2026 Jun · PMID 42310578 · Full text
BACKGROUND: Social stimulation from having large networks may build cognitive reserve and contribute to cognitive resilience. However, limited research has assessed whether this relationship differs across the adult life...
BACKGROUND: Social stimulation from having large networks may build cognitive reserve and contribute to cognitive resilience. However, limited research has assessed whether this relationship differs across the adult life course. We examined the relationship between social network size and resilience to neurodegeneration in memory, language, and executive function among mid-to-late-life adults. METHODS: The sample included 1,602 participants from the Framingham Heart Study Offspring cohort who completed the Berkman-Syme Social Network Index (SNI) questionnaire, had available plasma total tau (t-tau) measures at Exam 8, and had neuropsychological (NP) factor scores in memory, language, and executive function. Social network size was operationalized through a calculated SNI score and categorized into small, medium, and large networks. Cognitive resilience was operationalized using a residual approach by regressing each NP factor score on the plasma t-tau measure. Linear regression was used to assess associations between social network size and cognitive resilience, adjusting for age, sex, education, APOE ε4 allele carrier status, time between the most recent NP exam visit date and Exam 8 date, physical activity, smoking status, and depressive symptoms. Models were stratified by midlife (age 47-64 years) and late-life (age 65-91 years) groups. RESULTS: Average age was 67 years with most participants identifying as female (n = 880; 55%). By age group, more participants were in the late-life group (n = 918; 57%) compared to the midlife group (n = 684; 43%). Large social network size was significantly associated with greater resilience to neurodegeneration in memory compared to small social network size (β = 0.07; 95% CI = 0.01-0.13). There were no significant associations between large social networks and resilience to neurodegeneration in language or executive function. No significant interactions between social network size and age group on resilience to neurodegeneration were observed in any of the domains examined. In the stratified models, large social networks were only associated with resilience to neurodegeneration in executive function among the midlife group (β = 0.11; 95% CI = 0.01-0.21). CONCLUSIONS: Large social networks may promote greater resilience to neurodegeneration in memory among mid-to-late-life adults. Specific to middle-aged adults was a significantly greater resilience in executive function associated with large networks. These findings should be interpreted with caution, however, as estimate sizes are relatively small and potentially not robust, given the current sample size. Additional studies in larger and more diverse samples are needed to replicate and generalize our findings to other groups.
Efficacy and safety of Tc-MIBI SPECT-guided botulinum toxin injection in parkinsonian postural abnormality.
Hong R, Wu Z, Zhu S … +6 more , Pan L, Pan Y, Zhang X, Chen S, Guan Q, Jin L
BMC Neurol · 2026 Jun · PMID 42304303 · Full text
BACKGROUND: Technetium-sestamibi single-photon emission computed tomography (Tc-MIBI SPECT) guidance has been shown to significantly improve the efficacy of botulinum toxin (BTX) injection in dystonic postural abnormalit...
BACKGROUND: Technetium-sestamibi single-photon emission computed tomography (Tc-MIBI SPECT) guidance has been shown to significantly improve the efficacy of botulinum toxin (BTX) injection in dystonic postural abnormalities. But its effect in parkinsonian postural abnormalities remains unknown. METHODS: Eligible PD patients with postural abnormalities all underwent Tc-MIBI SPECT muscle metabolic imaging and baseline evaluation followed by SPECT-guided BTX injection. The primary efficacy outcome was the improvement in resting forward and lateral trunk flexion angle (RTF and RTL) at 1 month. Secondary efficacy outcomes included subjective efficacy, pain VAS score and PDQ-39 score. Adverse events (AEs) were also assessed. RESULTS: A total of 29 PD patients (14 males, 15 females) were analyzed with a mean age of 68.5 ± 8.9 years. The RTF increased (37.71 ± 16.82° vs. 40.17 ± 17.03°, Estimated Mean Difference = -2.46, 95% CI [-5.97, 1.06], p = 0.027) significantly while the RTL decreased (9.61 ± 8.78° vs. 8.28 ± 7.62°, Estimated Mean Difference = 1.34, 95% CI [-0.99, 3.67], p = 0.208) slightly at 1 month compared to baseline, though the difference was not significant. At 1 month, 4 patients (13.8%) experienced an improvement of more than 5° in RTF, 13 patients (44.8%) reported minimal to much subjective improvement and 10 patients (34.5%) saw an improvement of more than 1 point in the pain VAS score. Eleven AEs occurred, with no serious adverse events (SAEs). Related AEs mainly included transient worsening of postural abnormalities and low-back pain, which typically alleviated within 2 weeks to 2 months. CONCLUSIONS: The Tc-MIBI SPECT-guided BTX treatment for parkinsonian postural abnormalities demonstrated acceptable safety but was not as effective as expected. Future studies should focus on identifying potential candidates who shall benefit from this method. CLINICAL TRIALS REGISTRATION: the Chinese Clinical Trial Registry, number ChiCTR2000039775, Nov. 8th, 2020.
Tied by tiredness, a blended care intervention for fatigue after acquired brain injury: study protocol for a multicentre prospective non-randomized patient-preference trial into patient-related outcomes and costs.
Lazeron-Savu E, Lenaert B, Wolfs C … +5 more , Schepers V, Smejka T, Dijkstra J, Ponds R, van Heugten C
BMC Neurol · 2026 Jun · PMID 42304282 · Full text
BACKGROUND: Despite the high prevalence of fatigue after acquired brain injury and the major impact of fatigue on people's lives, evidence-based interventions are scarce. We developed a new personalized blended care inte...
BACKGROUND: Despite the high prevalence of fatigue after acquired brain injury and the major impact of fatigue on people's lives, evidence-based interventions are scarce. We developed a new personalized blended care intervention, Tied by Tiredness, which was found to be feasible in a pilot study. In this paper, we present the design of a study of patient-related outcomes and the societal costs of the intervention. METHODS: This study is a multicentre prospective nonrandomized patient preference trial with baseline (T0), posttreatment (T1), 3-month (T2) and 6-month (T3) follow-up data. The participants will be 45 adults who have experienced brain injury (stroke or traumatic brain injury) and are seeking treatment for fatigue symptoms. The participants will choose whether to receive Tied by Tiredness or treatment as usual. The Tied by Tiredness intervention consists of a 6-week blended care treatment, which combines experience sampling methodology (participants answer momentary questions about fatigue and their daily lives sent via a phone application) with personalized face-to-face feedback by a health care professional. Treatment as usual entails occupational therapy sessions once a week for 6-8 weeks. Measures of fatigue and secondary outcomes (mood, cognitive complaints, participation, and quality of life) will be collected via questionnaires at each time point. To investigate the changes in fatigue severity from pre- to postintervention and follow-up, a linear mixed-effects model with fatigue severity score (FSS) as the dependent variable and time point (T0, T1, T2, T3) as a within-subject factor will be used. In addition, a cost analysis will be performed from a societal perspective, including both direct medical costs (e.g., intervention costs) and societal costs (e.g., informal care, productivity losses). DISCUSSION: Fatigue after brain injury is multifactorial with high individual variability. We hypothesize that the personalized blended care intervention Tied by Tiredness may be an efficient and effective intervention to reduce fatigue and related problems TRIAL REGISTRATION: Clinical trial number: ID: NL-OMON21265; Overview of Medical Research in the Netherlands (OMON). The trial was first registered in the Overview of Medical Research in the Netherlands (ID: NL-OMON21265) on May 31st, 2021, before recruitment started.
Cut-off values of serum homocysteine and high-sensitivity CRP for predicting early neurological improvement after intravenous thrombolysis.
Oh MS, Park KY, Jeong HB … +2 more , Cho SH, Park CY
BMC Neurol · 2026 Jun · PMID 42304174 · Full text
BACKGROUND: We aimed to determine cut-off values of factors affecting early neurological improvement in patients after recombinant tissue plasminogen activator therapy for acute ischemic stroke. METHODS: A total of 135 p...
BACKGROUND: We aimed to determine cut-off values of factors affecting early neurological improvement in patients after recombinant tissue plasminogen activator therapy for acute ischemic stroke. METHODS: A total of 135 patients with acute ischemic stroke treated with tissue plasminogen activator within 4.5 h of stroke onset were enrolled at a single center. Therapy outcomes were based on early neurological improvement, defined as when the NIHSS score after 24 h of tPA treatment decreased by ≥ 40% from the baseline value. Binary logistic regression analysis was used to identify the factors affecting early neurological improvement. RESULTS: Sixty-nine (51.1%) patients had early neurological improvement. Multivariate analysis showed that younger age, absence of diabetes mellitus, presence of hypertension, lower serum homocysteine (odds ratio, 0.865; 95% confidence interval, 0.787-0.950; P = 0.003) and lower high-sensitivity C-reactive protein (0.345; 0.203-0.586; P < 0.001) levels were significantly associated with a higher probability of early neurological improvement. The cut-off values of serum homocysteine and high-sensitivity C-reactive protein were 11.99umol/L and 1.16mg/L, respectively. If Hcy and hsCRP were combined and used together, it was possible to predict ENI better than when Hcy and hsCRP was used alone. (sensitivity 92.75, specificity 60.61, and optimal cut-off value 23.65) ROC analyses showed modest discrimination for homocysteine (AUC 0.743, 95% CI 0.660-0.814) and hsCRP (AUC 0.747, 95% CI 0.665-0.818), with improved discrimination when both biomarkers were combined (AUC 0.797, 95% CI 0.719-0.861). CONCLUSIONS: In IVT-treated AIS, lower homocysteine and hsCRP were independently associated with early neurological improvement.
Sex-specific differences and diagnostic tool performance in the neuropsychiatric profile of Parkinson's disease.
Chen YS, Chen CM, Juan CH … +6 more , Cheng ML, Wu HC, Lee CH, Lo YS, Wang YR, Chang KH
BMC Neurol · 2026 Jun · PMID 42298495 · Full text
BACKGROUND: Neuropsychiatric symptoms are prevalent in Parkinson's disease (PD) but remain incompletely characterized, particularly concerning sex-specific differences and the comparative performance of diagnostic tools....
BACKGROUND: Neuropsychiatric symptoms are prevalent in Parkinson's disease (PD) but remain incompletely characterized, particularly concerning sex-specific differences and the comparative performance of diagnostic tools. This study aimed to provide a comprehensive neuropsychiatric profile of a Taiwanese PD cohort, evaluate the diagnostic sensitivity of various assessment tools, and explore correlations with clinical features. MATERIALS AND METHODS: We enrolled 92 PD patients and 57 healthy controls. Participants underwent a comprehensive assessment battery, including motor scales, cognitive measures, and mood inventories. Diagnoses of dementia and depression were established using standard criteria. Diagnostic tool performance was evaluated by calculating the sensitivity and specificity, and relationships between variables were assessed using Spearman correlation. RESULTS: Dementia was identified in 34.8% and depression in 28.3% of PD patients. Female patients had lower scores on the Mini-Mental State Examination (MMSE) (25.18 vs. 28.08, p = 0.003) and Montreal Cognitive Assessment (MoCA) (21.18 vs. 25.79, p = 0.001), and higher scores on the Hamilton Depression Rating Scale (HAM-D) (6.68 vs. 5.02, p = 0.046) and Neuropsychiatric Inventory (NPI) (3.95 vs. 1.79, p = 0.018) compared with male patients. For dementia diagnosis, the clinician-rated MMSE and MoCA demonstrated sensitivities exceeding 90%, whereas the caregiver-rated Clinical Dementia Rating (CDR) had a sensitivity of only 25%. For depression, the clinician-rated HAM-D (88.5% sensitivity) outperformed the self-reported Beck's Depression Inventory II (BDI-II) (65.4% sensitivity). Most neuropsychiatric assessments were significantly correlated with age, disease duration, and motor severity. CONCLUSIONS: These findings highlight a considerable neuropsychiatric burden in PD, with a distinct female-predominant vulnerability in cognitive and affective domains. The superior performance of clinician-administered assessments emphasizes their value in improving diagnostic certainty. These results support the routine, comprehensive, and sex-specific neuropsychiatric evaluations in the clinical management of PD.
Prevalence of restless legs syndrome in Pakistan: a systematic review and meta-analysis across diverse study populations.
Ebrahimi H, Ranjbar MS, Ebrahimi N … +1 more , Aghahosseini SS
BMC Neurol · 2026 Jun · PMID 42298475 · Full text
BACKGROUND: Restless Legs Syndrome (RLS) is a common sleep-related disorder that negatively affects sleep and quality of life. This study aimed to synthesize prevalence across diverse Pakistani populations of RLS in Paki...
BACKGROUND: Restless Legs Syndrome (RLS) is a common sleep-related disorder that negatively affects sleep and quality of life. This study aimed to synthesize prevalence across diverse Pakistani populations of RLS in Pakistan and compare it across different populations and regions. METHODS: This systematic review and meta-analysis was conducted in accordance with the PRISMA 2020 guidelines, and the study protocol was registered in the PROSPERO database (registration number: CRD420261319739). The databases PakMediNet, PubMed, Embase, Scopus, Web of Science, and Google Scholar were searched up to February 2026. Observational studies reporting the prevalence of RLS using validated diagnostic tools were included. Study quality was assessed using the Joanna Briggs Institute (JBI) critical appraisal tool. A random-effects model was applied to estimate pooled prevalence, and heterogeneity, subgroup analyses, meta-regression, and publication bias were systematically evaluated. RESULTS: A total of 61 studies comprising 65 independent reports were included in the meta-analysis. Pooled prevalence across included Pakistani study populations was high, with substantial heterogeneity observed across studies. Higher prevalence estimates were identified in several high-risk groups, including pregnant women, patients undergoing hemodialysis, individuals with diabetes, and students. Although most studies employed the IRLSSG diagnostic criteria, heterogeneity remained considerable. Moreover, the geographic distribution of studies was uneven, with no data available from Baluchistan Province. CONCLUSION: RLS appears to be a highly prevalent yet under-recognized condition in Pakistan. Population-based studies employing standardized methodologies, broader geographic coverage, and focused investigation of high-risk groups are warranted to achieve more accurate estimates of disease burden and to better inform future research priorities, healthcare awareness, and epidemiological planning.
Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.
Sansone VA, Dang UJ, Edmondson L … +11 more , Díaz-Manera J, Nikolenko N, Ashley EJ, Bassez G, Gagnon C, Montagnese F, Osman H, Tard C, Nowak U, Turner C, Zozulya-Weidenfeller A
BMC Neurol · 2026 Jun · PMID 42298468 · Full text
BACKGROUND: Prominent symptoms in myotonic dystrophy (DM) negatively affect the hands/arms (DM1), legs (DM2), or relate to fatigue. Myotonia is experienced by 90% of people with DM1 and is generally the DM hallmark. Howe...
BACKGROUND: Prominent symptoms in myotonic dystrophy (DM) negatively affect the hands/arms (DM1), legs (DM2), or relate to fatigue. Myotonia is experienced by 90% of people with DM1 and is generally the DM hallmark. However, it is unclear how people with DM consistently differentiate the impact of myotonia from other symptoms - especially weakness - across the broad framework of DM. METHODS: ENSA (revEal the burdeN on daily life for myotonic dyStrophy patients due to myotoniA) was a global (targeted at eight major countries), anonymised, online, patient-reported survey to investigate perceptions of daily impact/burden of myotonia and explore antimyotonic treatment access. Thirty-two questions covering DM symptoms, broad disease impact, specific impact of myotonia and treatment formed an online survey. Internal consistency of multi-item myotonia-related domains was assessed. RESULTS: N=386 (18-82 years; 62% women; 74% self-reporting a genetically confirmed DM1 diagnosis) completed ENSA. Common symptoms were hand/arm myotonia and upper-body muscle weakness (DM1, mean scores, 3.5; possible range, 1-5) and lower-body muscle weakness (DM2, mean score, 4.2; possible range, 1-5). Leg-myotonia scores increased in higher-age brackets: DM1/DM2, mean 2.86/3.71 in <40 years; >3.26/>3.97 in ≥40 years. Some respondents associated "myotonia" with DM symptoms not clinically linked to myotonia. Nevertheless, heightened "myotonia" scoring was associated with heightened daily impact/burden, and worsened abilities to undertake normal activities. Cronbach's α was 0.96 (95% CI: 0.95-0.97) and 0.93 (95% CI: 0.91-0.95) for DM1 and DM2, respectively, indicating good internal consistency for questions assessing impact of myotonia on daily activities. 193/247(78%) DM1 and 57/83(69%) DM2 respondents were not on an antimyotonic. Treatment levels were highest in Italy (37%), where greatest treatment-related improvements and lowest dissatisfaction scores were reported (mean 24.6%; mean 40.0% for the other target countries). CONCLUSIONS: ENSA data indicate that neuromotor function is impaired and that myotonia is frequently burdensome in DM. Some patients have unmet treatment needs, although antimyotonic treatment may reduce the impact of myotonia and, consequently, improve aspects of daily living. Patients may need guidance to differentiate "myotonia" from other muscle symptoms. Nevertheless, ENSA enhances understanding of patient-reported symptom burden in DM and indicates support for antimyotonic treatment.
"Chipped but not broken" - patients' symptoms and challenges beyond five years post radiotherapy for meningioma: a qualitative interview study.
Åkeflo L, Ahlberg K, Fessé P … +6 more , Lannerheim P, Fransson P, Kristensen I, Ohlsson-Nevo E, Sjövall K, Langegård U
BMC Neurol · 2026 Jun · PMID 42298464 · Full text
BACKGROUND: Meningioma, the most prevalent brain tumor in adults, is predominantly benign and often treated with radiotherapy and/or surgery, generally with positive treatment outcomes. Radiotherapy can be administered u...
BACKGROUND: Meningioma, the most prevalent brain tumor in adults, is predominantly benign and often treated with radiotherapy and/or surgery, generally with positive treatment outcomes. Radiotherapy can be administered using either conventional radiotherapy (CRT) or proton beam therapy (PBT). The treatment can cause chronic symptoms such as headache, fatigue, and neurocognitive impairments that can significantly affect daily life. However, there is a lack of research on the long-term consequences of treatment, particularly concerning patients' own experiences of related symptoms. Therefore, this study aimed to explore the experiences and daily life challenges of individuals at five or more years post-radiotherapy for meningioma. METHODS: A qualitative interview study was conducted with 20 participants who were over five years post-treatment and had undergone either PBT or CRT. Using a structured guide with open questions, data were collected through online interviews which were then transcribed verbatim and analyzed using thematic analysis that followed a six-step process described by Braun and Clark. RESULTS: Of the 20 participants, 17 had received PBT and 3 had undergone CRT, with most having completed their treatment more than six years ago. Two main themes were constructed: "Adjusted life circumstances" and "Reduced autonomy". Some participants described persistent symptoms such as chronic headaches, cognitive difficulties, and fatigue, which significantly affected their daily lives. Despite these challenges, some patients adapted through establishing new routines, accepting limitations, and altering their perspectives. Reduced autonomy was noted among some, who experienced increased dependence on family, feelings of isolation, and anxiety about tumor recurrence. CONCLUSIONS: Some patients experience persistent symptoms and daily challenges even five or more years after radiotherapy for meningioma. Although some participants adapt by utilizing their own internal and external resources, this can lead to isolation and increased dependence on family and partners. Improving the follow-up care of these patients could help in optimize function and address their challenges.
The association between depressive symptoms and sleep quality in patients with multiple sclerosis: a systematic review and meta-analysis.
Moradi A, Ebrahimian A, Talebi M … +1 more , Naseri A
BMC Neurol · 2026 Jun · PMID 42298462 · Full text
BACKGROUND: Multiple sclerosis (MS) is a chronic, immune-mediated disease often associated with neuropsychiatric complications, including depressive symptoms and sleep disturbances. Evidence regarding their association r...
BACKGROUND: Multiple sclerosis (MS) is a chronic, immune-mediated disease often associated with neuropsychiatric complications, including depressive symptoms and sleep disturbances. Evidence regarding their association remains inconsistent; therefore, this systematic review and meta-analysis aimed to investigate the correlation between depressive symptoms and sleep quality in patients with MS. METHODS: A systematic search was conducted across PubMed, Embase, Web of Science, and Scopus up to February 2, 2025. Cross-sectional and case-control studies which assessed sleep quality using the Pittsburgh Sleep Quality Index (PSQI) and depressive symptoms using validated instruments were included. Two independent reviewers conducted the study selection, data extraction, and risk of bias assessment. Pooled correlation coefficients (r) were calculated using Comprehensive Meta-Analysis software (CMA). RESULTS: Twenty-one studies comprising 3,144 patients with MS were included. Depressive symptoms were assessed using the scales including Beck Depression Inventory (BDI), Hospital Anxiety and Depression Scale (HADS), Hamilton Depression Rating Scale (HDRS). Meta-analysis demonstrated a moderate positive correlation between PSQI and different scales of depressive symptoms (r = 0.46, 95% CI: 0.37-0.55, p < 0.01); however, heterogeneity was considerable (I² = 83.3%). The certainty of evidence was low considering the observational nature of the included studies and substantial inconsistency. Subgroup analysis of studies based on the scales of depressive symptoms showed lower heterogeneity. CONCLUSION: This review suggests a possible association between poor sleep quality and depressive symptoms in patients with MS; however, the findings should be interpreted cautiously because of the low certainty of evidence. Further well-designed prospective studies are needed to clarify the strength and direction of this relationship.
Comprehensive characterization and prognostic analysis of multifocal intracranial germ cell tumors.
Zhang Y, Chai X, Hu Y … +2 more , Deng K, Yao Y
BMC Neurol · 2026 Jun · PMID 42298451 · Full text
BACKGROUND: Given the limited evidence on multifocal intracranial germ cell tumors (iGCTs)-a rare but clinically distinct entity-this study comprehensively characterizes their clinical features and identifies key prognos...
BACKGROUND: Given the limited evidence on multifocal intracranial germ cell tumors (iGCTs)-a rare but clinically distinct entity-this study comprehensively characterizes their clinical features and identifies key prognostic factors. METHODS: A retrospective analysis was conducted on 48 patients diagnosed with multifocal iGCTs from 2006 to 2025 in our center. Demographics, clinical presentation, MRI characteristics, pathology, treatment modalities, and survival outcomes were analyzed. Overall survival (OS) and progression-free survival (PFS) were estimated using Kaplan-Meier methods. Prognostic factors were identified through univariate and multivariate analyses. RESULTS: Median age at diagnosis was 13 years (range: 6-31), with male predominance (87.5%). The most common symptoms were diabetes insipidus (81.2%) and hemiparesis (56.2%). Significant imaging features included hemiatrophy (47.9%) and heterogeneous enhancement (68.8%). Germinoma was diagnosed in 66.7% of patients and combined chemoradiotherapy (CHT + RT) was administered to 58.3% of patients. The 10-year OS and PFS rates were 84.6% and 70.6%, respectively. In this exploratory analysis, factors associated with favorable outcomes included germinoma histology (HR = 0.06, 95% CI 0.01-0.53, P = 0.011), combined CHT + RT (HR = 0.09, 95% CI 0.01-0.76, P = 0.027), and absence of tumor-infiltrating lymphocytes (HR = 0.14, 95% CI 0.02-1.06, P = 0.050 for PFS). CONCLUSION: Multifocal iGCTs represent a distinct clinical entity with outcomes that are poorer compared to solitary iGCTs. Germinoma, combined chemoradiotherapy, and lymphocyte infiltration may be associated with survival, warranting further investigation. These findings emphasize the importance of histology-driven, multimodal treatment strategies for optimizing outcomes in this rare disease.
Responder discordance between migraine frequency and patient-reported outcomes after CGRP-pathway monoclonal antibody treatment: a secondary analysis of public patient-level data.
Wu C, Wang J, Zhao S … +2 more , Wang Y, Wu T
BMC Neurol · 2026 Jun · PMID 42298448 · Full text
BACKGROUND: Monoclonal antibodies targeting the calcitonin gene-related peptide (CGRP) pathway are established preventive treatments for migraine. Although treatment response is often summarized by reduction in monthly m...
BACKGROUND: Monoclonal antibodies targeting the calcitonin gene-related peptide (CGRP) pathway are established preventive treatments for migraine. Although treatment response is often summarized by reduction in monthly migraine days (MMD), patients and clinicians also judge benefit by changes in disability and headache impact. We examined how often frequency-based and patient-reported outcome measure (PROM) responder definitions classify the same individuals after CGRP-pathway monoclonal antibody treatment and characterized the direction of discordant response patterns. METHODS: We performed a secondary analysis of a public patient-level dataset including 417 patients treated with a first CGRP-pathway monoclonal antibody. Response was defined using source-study criteria: subtype-specific MMD response, Migraine Disability Assessment (MIDAS) response, and Headache Impact Test-6 (HIT-6) response. We quantified response rates, pairwise agreement, directional discordance, and continuous-change correlations. Exploratory logistic regression examined baseline features associated with discordant classification. RESULTS: MMD, MIDAS, and HIT-6 response occurred in 227/417 (54.4%), 243/417 (58.3%), and 254/417 (60.9%) patients, respectively. Only 131/417 (31.4%) met all three response definitions, and 207/417 (49.6%) had discordant classification across the three endpoints. Observed agreement between MMD and MIDAS response was 66.4% with kappa 0.32, and observed agreement between MMD and HIT-6 response was 68.6% with kappa 0.36. When MMD was compared with any PROM response, PROM-only response occurred in 111/417 (26.6%) patients and frequency-only response in 18/417 (4.3%). Correlations between continuous improvements in frequency-based and patient-reported outcomes were moderate rather than strong. CONCLUSIONS: After CGRP-pathway monoclonal antibody treatment, responder classification depended on whether response was defined by migraine frequency, disability, or headache impact. PROM-only response was more frequent than frequency-only response, suggesting that some patients may report meaningful improvement in disability or impact even when they do not cross diary-based frequency thresholds. These findings do not establish a new responder definition or show that one endpoint is superior; they support complementary reporting of headache frequency and patient-reported burden. TRIAL REGISTRATION: Not applicable.
In-hospital case-fatality after intracerebral hemorrhage in southern Iran: a single-center retrospective study.
Radfar A, Kazerooni AR, Masoudi MS … +1 more , Zakeri M
BMC Neurol · 2026 Jun · PMID 42298432 · Full text
BACKGROUND: Intracerebral hemorrhage (ICH) is a life-threatening form of stroke associated with high morbidity and in-hospital case-fatality, particularly in low- and middle-income countries. This study aimed to identify...
BACKGROUND: Intracerebral hemorrhage (ICH) is a life-threatening form of stroke associated with high morbidity and in-hospital case-fatality, particularly in low- and middle-income countries. This study aimed to identify clinical factors associated with in-hospital case-fatality among patients with ICH in southern Iran. METHODS: This retrospective observational study included patients with ICH admitted to Namazi Hospital, a high-volume tertiary referral center in southern Iran, between March 2018 and February 2021. Demographic characteristics, comorbidities, and in-hospital outcomes were extracted from electronic medical records. The primary outcome was in-hospital case-fatality, defined as death during the index hospitalization. Statistical analyses included independent-samples t-tests, chi-square tests, and multivariable logistic regression to identify factors independently associated with in-hospital case-fatality. RESULTS: A total of 1,796 patients were included in the final analysis. Patients who died during hospitalization were older than survivors (64.6 ± 20.4 vs. 60.3 ± 20.7 years, p < 0.001). Sex, place of residence, and length of hospital stay did not differ significantly between groups in unadjusted analyses. Comorbid conditions, including hypertension, diabetes mellitus, chronic kidney disease, cardiovascular disease, malignancy, and COVID-19 infection, were more frequent among non-survivors (all p < 0.001). In multivariable analysis, diabetes mellitus (OR 3.46, 95% CI 1.40-8.55), hypertension (OR 4.76, 95% CI 3.62-6.27), chronic kidney disease (OR 6.98, 95% CI 3.00-16.27), cardiovascular disease (OR 7.15, 95% CI 4.42-11.57), malignancy (OR 8.83, 95% CI 4.21-18.55), and COVID-19 infection (OR 7.21, 95% CI 3.24-16.08) were independently associated with increased odds of in-hospital case-fatality. CONCLUSION: In this cohort of patients with ICH, several comorbid conditions were independently associated with in-hospital case-fatality. These findings may support early risk stratification in similar resource-limited settings. Further studies incorporating detailed clinical severity measures are warranted to improve risk prediction and interpretation.
Fatal inflammation: understanding meningitis mortality in the United States (1999-2020).
Hafeez AS, Faizan M, Daniyal SM … +9 more , Zaman A, Faisal AR, Abdullah, Laiba F, Maity R, Humayun MA, Singh P, Alam MM, Dhali A
BMC Neurol · 2026 Jun · PMID 42288800 · Full text
BACKGROUND: Meningitis, an inflammatory condition that affects the meninges, has reported an increase in cases between 2006 and 2016. While in well-resourced settings, the incidence of acute bacterial meningitis has decl...
BACKGROUND: Meningitis, an inflammatory condition that affects the meninges, has reported an increase in cases between 2006 and 2016. While in well-resourced settings, the incidence of acute bacterial meningitis has declined to below 0.5-1.5 cases per 100,000 population. Overall, late excess mortality following meningitis is highest within the first two years after discharge, particularly affecting patients aged 30-60 years. This research seeks to analyse these trends and investigate potential disparities in mortality rates based on demographic variables between 1999 and 2020. By quantifying high-risk populations and regional differences, the findings provide evidence to guide targeted public health interventions and resource allocation. METHODS: This retrospective observational study used CDC WONDER data (1999-2020) to analyse mortality trends for individuals aged 1-85 + years. Deaths related to meningitis were identified using ICD-10 codes A17.0, A32.1, A39.0, A87.0, A87.1, A87.2, A87.8, A87.9, B00.3, B01.0, B02.1, B05.1, B26.1, B37.5, B38.4, G00.0, G00.1, G00.2, G00.3, G00.8, G00.9, G03.0, G03.1, G03.2, G03.8, G03.9. Crude mortality rates and age-adjusted mortality rates (AAMRs) were calculated. Temporal trends and significant changes in mortality trajectories were assessed using Joinpoint regression analysis, which estimated annual percentage changes (APCs) and identified statistically significant inflection points. Mortality patterns were further stratified by sex, race or ethnicity, census region, state, and urban-rural classification. RESULTS: Between 1999 and 2020, meningitis-related AAMRs in the United States declined from 8.43 to 3.88 per 1,000,000 population, with the steepest decrease between 1999 and 2012 before stabilising thereafter. Males consistently showed higher mortality (AAMR 5.79) compared to females (AAMR 4.53), though both declined substantially over the study period. Non-Hispanic (NH) Black individuals exhibited the highest AAMRs (8.59), followed by Hispanics (4.81), NH Whites (4.64), and NH Asians or Pacific Islanders (3.58). Geographically, the West (5.35) and South (5.33) had the greatest burden, while the Northeast (4.69) and Midwest (4.81) reported lower rates. State-level variation ranged from 8.85 per 1,000,000 in the District of Columbia to 3.52 per 1,000,000 in Delaware, with higher mortality in non-metropolitan areas than metropolitan ones. CONCLUSION: This study provides a comprehensive analysis of meningitis-related mortality trends in the United States from 1999 to 2020, highlighting significant declines in AAMRs across demographic groups, regions, and urbanisation levels. Despite the overall decline, the stabilisation of AAMRs in the last decade suggests a plateau in progress, necessitating further investigation into the underlying factors. Thus, targeted interventions to enhance the prevention, control, and management of risk factors might be required to achieve lasting change.
Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood.
Vikhe V, Shaik MH, Khaire P … +2 more , Patil R, Chakraborty A
BMC Neurol · 2026 Jun · PMID 42286544 · Full text
BACKGROUND: Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must...
BACKGROUND: Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must be considered. While UCDs typically present in the neonatal period, partial enzyme deficiencies may remain clinically silent until adulthood and present abruptly with life-threatening hyperammonaemia encephalopathy. Among these, late-onset carbamoyl phosphate synthetase I (CPS-I) deficiency is exceedingly rare and often underdiagnosed. CASE PRESENTATION: We report a 32-year-old male who presented with acute onset altered sensorium progressing to coma over 12 h. The neurological decline was preceded by two to three episodes of vomiting on the day of admission and a recent history of a five-to-six-day febrile illness accompanied by gastrointestinal symptoms. On admission, the patient had a Glasgow Coma Scale score of 7/15 and required endotracheal intubation with ventilatory support. Routine laboratory investigations, including liver and renal function tests, were within normal limits. Neuroimaging studies (CT and MRI brain) showed no abnormalities. Plasma ammonia was markedly elevated at 397 µg/dL (Normal: <50 µg/dL), which rapidly escalated to 804 µg/dL within 24 h despite initial pharmacological intervention. Further metabolic evaluation revealed low plasma citrulline, elevated glutamine levels, and low urinary orotic acid, suggestive of a proximal urea cycle defect such as carbamoyl phosphate synthetase I (CPS-I) or N-acetylglutamate synthase (NAGS) deficiency. A significant family history of consanguinity and unexplained neonatal death, further supported a genetic etiology. The patient underwent urgent haemodialysis for ammonia clearance and was treated with protein restriction, dextrose-based intravenous fluids, and ammonia-lowering agents including sodium benzoate. His neurological status improved progressively, allowing successful extubation after three days. He was later discharged on oral L-citrulline supplementation and dietary protein restriction. At two-week follow-up, he was clinically stable with normalized plasma ammonia levels. CONCLUSION: This case highlights the importance of considering late-onset urea cycle disorders in adults presenting with unexplained hyperammonaemia encephalopathy. Early recognition and prompt aggressive management can be lifesaving and lead to complete neurological recovery.
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