Department Of Neurology Research Articles

A severity comparison of leukoaraiosis in ischemic and hemorrhagic stroke: a retrospective study.

Leukoaraiosis (LA) is a common neuroradiological finding in patients suffering from stroke. Cerebral small-vessel disease (SVD) is one of the primary causes of both ischemic stroke and hemorrhagic stroke (intracerebral hemorrhage, ICH) and the development of LA. Significant evidence that LA predicts the risk of functional dependency and mortality exists. However, studies examining the difference in LA severity between ischemic stroke and hemorrhagic stroke are lacking. We therefore aimed to compare the severity and abundance of LA in the two stroke subgroups. All patients admitted to the Department of Neurology, Haukeland University Hospital, with an ischemic stroke and intracerebral hemorrhagic (ICH) stroke diagnosed between 2006 and 2020 were included in the study. We collected patient data on risk factors and clinical and radiological findings and outcomes from our local stroke registry. The presence and severity of LA were assessed using the Fazekas score based on CT imaging. We evaluated the outcome using the modified Rankin Score (mRS) 7 days post-stroke. A total of 5,084 patients were included in our analyses: 4437 (87%) with ischemic stroke and 647 (13%) with ICH. LA was present in 2476 (45%) patients. In our ordinal logistic regression model, adjusting for age, sex, known hypertension, known diabetes mellitus, and smoking, LA was more severe and more abundant in ICH patients compared to ischemic stroke patients (Fazekas score: 1, OR: 1.54; Fazekas score: 2, OR: 1.88; and Fazekas score: 3, OR 2.13; p < 0.001). Increasing severity of LA was associated with worse functional outcomes in both groups (ischemic stroke, OR: 1.49; p < 0.001 and ICH, OR: 1.36; p < 0.025). In this study, LA was more severe and abundant in patients with ICH.

Specific features of bilateral otolith manifestations in patients with vestibular balance disorder

Bilateral asymmetry in the function of the semicircular canals underlies dizziness and vestibular balance disorders. According to the traditional view, otolith dysfunction does not have a significant effect on the clinical picture in individuals with peripheral vestibular disorders. In recent years, interest in studying the contribution of vestibular function to the control of posture and movements has increased. However, we have not identified any studies addressing the reactivity of otolith organs in vestibular balance disorders in the available literature.Aim: To study bilateral otolith reactions in patients with vestibular balance disorders using the method of cervical vestibular evoked myogenic potentials (cVEMP) in patients with episodic and chronic vestibular disorders.Material and Methods. A clinical examination was carried out in 63 patients complaining of dizziness and balance problems. They were hospitalized on an emergency and planned basis in the neurological departments of the clinics of the Siberian State Medical University and the Medical and Sanitary Unit No 2 in Tomsk. From the total group, 28 patients (8 men and 20 women aged from 22 to 84 years) were selected for assessment of vestibular function; the average age was 63.87 ± 11.52 years and 57.2 ± 18.5 years for men and women respectively. They had chronic and episodic vestibular dysfunction unrelated to acute or progressive neurological disease and inflammatory pathology of the inner ear.Results. 27 patients (96.4%) complained of dizziness. Systemic dizziness, characterized by a feeling of objects rotating around the subject, was detected in 29.63% of patients; non-systemic dizziness, including a feeling of “failing” – in 81.48%. Both types of complaints appeared in 10.71% of those examined, which made it possible to identify 2 groups of patients: Group A – with chronic vestibular disorders (7 patients) and Group B – with episodic vestibular disorders (21 patients). During the study of the groups of patients, differences were found in the amplitudes of cVEMP latency P13 and the coefficient of vestibular asymmetry between Groups A and B, as well as the absence of a difference in amplitudes in Group A and the presence of a difference in Group B on the right.Conclusion. Despite the fact that patients presented with predominantly one complaint of dizziness, clinical and instrumental tests of vestibular dysfunction showed the presence of damage to both the semicircular canals and otolithic organs; asymmetry of vestibular reflexes and/or bilateral damage to the vestibular organs. The results of the study allow us to consider the cVEMP method as one of the methods for objectively assessing the condition of the otolithic apparatus in patients with impaired vestibular function. In this regard, it is recommended to use this method in routine neurological practice.

Real-World Experience with Diroximel Fumarate in Patients with Multiple Sclerosis: A Prospective Multicenter Study.

Current literature and a real-world study suggest that diroximel fumarate (DRF) is safer than dimethyl fumarate (DMF) in the treatment of multiple sclerosis (MS). However, no real-world study to date has significantly addressed the efficacy of this treatment. This study aims to elucidate the safety, tolerability, and efficacy of DRF in a real-world setting, utilizing data from a Spanish national registry of patients commencing DRF therapy post-market introduction. In this multicenter, prospective observational study, data were collected from MS patients who initiated DRF treatment. The study monitored demographic and clinical characteristics, safety outcomes (including adverse events, reasons for discontinuation, and lymphocyte counts), and efficacy outcomes (radiological and clinical activity). A total of 195 MS patients across 26 neurological departments were included, predominantly female (79.5%), with a mean age of 42.17 years, and a mean duration of treatment with DRF of 6.3 months. Most patients (70.3%) reported no adverse events, while gastrointestinal issues and flushing were the most common adverse events observed. The majority of patients (84.6%) continued with DRF treatment, with tolerability issues being the primary reason for discontinuation. Efficacy analysis showed low relapse rates post-DRF initiation, with most patients exhibiting stable or improved Expanded Disability Status Scale scores and radiological assessments demonstrating minimal activity. This comprehensive analysis provides valuable insights into the real-world application of DRF, confirming its safety and tolerability while offering preliminary evidence of its efficacy in managing MS.

The Impact of COVID-19 Vaccination and Infection on the Exacerbation of Myasthenia Gravis

Objectives: Myasthenia Gravis (MG) is an autoimmune disorder that can exacerbate for various reasons, including vaccination and infection. This study aimed to investigate the safety of COVID-19 vaccines for MG patients, factors influencing MG exacerbation after COVID-19 infection (MECI), the course and prognosis of MECI, and the impact of COVID-19 vaccine on infected MG patients. Methods: Patients were enrolled from the MG database in the Department of Neurology, Xuanwu Hospital, Capital Medical University. Two questionnaires were administered to collect data concerning COVID-19 vaccination (questionnaire 1, Q1) and infection (questionnaire 2, Q2) during two distinct periods. MG exacerbation was defined as an increase of at least two points in the MG activity of daily living (MG-ADL) score. COVID-19 severity was categorized as “hospitalization” or “home management”; Results: During the first data-collecting period, our database registered 1013 adult patients: 273 (26.9%) had received COVID-19 vaccinations and completed Q1, and 8 (2.9%) experienced MG exacerbation after vaccination. During the second data-collecting period, among the newly registered patients, 366 patients completed Q2. Of these, 244 were infected, with 39 (16.0%) experiencing MECI and 21 (8.6%) requiring hospitalization. Multivariate analysis showed that generalized myasthenia gravis was associated with MECI (OR 3.354, 95% CI: 1.423–7.908, p = 0.006). Among the 244 infected patients, 143 had received COVID-19 vaccinations, including 14 who received their booster dose within 6 months before COVID-19 and 129 who were vaccinated more than 6 months before COVID-19. The remaining 101 were unvaccinated. No significant associations were found between COVID-19 vaccination and COVID-19 severity (p = 0.292) or MECI incidence (p = 0.478); Conclusions: COVID-19 vaccines were found to be safe for MG patients in stable condition. Patients with gMG were more susceptible to experiencing MECI. No significant impact of the vaccine on COVID-19 severity or MECI incidence was observed.

Repetitive transcranial magnetic stimulation alleviates motor impairment in Parkinson’s disease: association with peripheral inflammatory regulatory T-cells and SYT6

BackgroundRepetitive transcranial magnetic stimulation (rTMS) has been used to treat various neurological disorders. However, the molecular mechanism underlying the therapeutic effect of rTMS on Parkinson’s disease (PD) has not been fully elucidated. Neuroinflammation like regulatory T-cells (Tregs) appears to be a key modulator of disease progression in PD. If rTMS affects the peripheral Tregs in PD remains unknown.MethodsHere, we conducted a prospective clinical study (Chinese ClinicalTrials. gov: ChiCTR 2100051140) involving 54 PD patients who received 10-day rTMS (10 Hz) stimulation on the primary motor cortex (M1) region or sham treatment. Clinical and function assessment as well as flow cytology study were undertaken in 54 PD patients who were consecutively recruited from the department of neurology at Zhujiang hospital between September 2021 and January 2022. Subsequently, we implemented flow cytometry analysis to examine the Tregs population in spleen of MPTP-induced PD mice that received rTMS or sham treatment, along with quantitative proteomic approach reveal novel molecular targets for Parkinson's disease, and finally, the RNA interference method verifies the role of these new molecular targets in the treatment of PD.ResultsWe demonstrated that a 10-day rTMS treatment on the M1 motor cortex significantly improved motor dysfunction in PD patients. The beneficial effects persisted for up to 40 days, and were associated with an increase in peripheral Tregs. There was a positive correlation between Tregs and motor improvements in PD cases. Similarly, a 10-day rTMS treatment on the brains of MPTP-induced PD mice significantly ameliorated motor symptoms. rTMS reversed the downregulation of circulating Tregs and tyrosine hydroxylase neurons in these mice. It also increased anti-inflammatory mediators, deactivated microglia, and decreased inflammatory cytokines. These effects were blocked by administration of a Treg inhibitor anti-CD25 antibody in MPTP-induced PD mice. Quantitative proteomic analysis identified TLR4, TH, Slc6a3 and especially Syt6 as the hub node proteins related to Tregs and rTMS therapy. Lastly, we validated the role of Treg and rTMS-related protein syt6 in MPTP mice using the virus interference method.ConclusionsOur clinical and experimental studies suggest that rTMS improves motor function by modulating the function of Tregs and suppressing toxic neuroinflammation. Hub node proteins (especially Syt6) may be potential therapeutic targets.Trial registrationChinese ClinicalTrials, ChiCTR2100051140. Registered 15 December 2021, https://www.chictr.org.cn/bin/project/edit?pid=133691Graphical rTMS is a safe and non-invasive method for Parkinson's disease. In this study, we showed the proportion of CD4+CD25+CD127- regulatory T-cells (Tregs) in the peripheral blood was significantly increased after rTMS treatment. Similar effects of rTMS treatment were verified in MPTP-induced PD mice. Proteomic analysis and RNA interference analyses identified TLR4, TH, Slc6a3 and especially Syt6 as hub node proteins that can be modulated by rTMS therapy in PD.

Cross-cultural adaptation of the "Questionnaire about Care for People with Duchenne Muscular Dystrophy" to Brazilian Portuguese

Objective: To describe the cross-cultural adaptation of the"Questionnaire about Care for People with Duchenne MuscularDystrophy" to Brazilian Portuguese and our findings about the DMDcare access in a group of 43 patients assisted in an UniversityHospital in Rio de Janeiro.Method: Guidelines for best practice in translation and culturaladaptation were followed. Validation of the adapted questionnairewas verified in a group of 43 patients with Duchenne MuscularDystrophy (DMD) assisted in the Child Neurology Department of auniversity hospital in Rio de Janeiro.Results: Once the questionnaire was cross-adapted into BrazilianPortuguese, information was obtained on disease progression,access to recommended care and difficulties encountered inmaintaining treatment. This allowed comparison with previouslypublished national and international data.Conclusion: The adapted version of the CARE-NMD questionnairefor Brazilian Portuguese has the potential to support the work donein neuromuscular centers and health managers in Brazil. It providesa picture of access to care in our country, and allows exchangingupdated information between Brazilian and internationalneuromuscular centers.

The diagnostic challenge of differentiating Tumefactive Multiple Sclerosis (TMS) from other brain lesions: a case report and literature review on a rare subtype of MS

Introduction and Importance: This case report is a clinical diagnosis walk through of a rare subtype of Multiple sclerosis (MS). It gives an overview of how Tumefactive multiple sclerosis (TMS) is systematically narrowed down as the definitive diagnosis. Case Presentation: Our 29 year old male patient presented to the emergency department. He collapsed after experiencing pain over his right frontotemporal region followed by a seizure witnessed by his family. Magnetic Resonance Imaging of the brain displayed a diffuse enlargement and abnormal T2 weighted and FLAIR hyperintense signals in the diagnostic impressions described by the radiologist of the right temporoparietal region. Clinical Discussion: Liquefactive Multiple Sclerosis, also known as tumefactive multiple sclerosis or Marburg-type multiple sclerosis, is a rare subtype of the neurological disorder that can be difficult to diagnose. Unlike the traditional form of Multiple sclerosis (MS), Tumefactive multiple sclerosis (TMS) can present as a brain tumor and must be diagnosed with a biopsy rather than via magnetic resonance imaging (MRI) and clinical findings alone. Patients can typically present with headache, cognitive abnormalities, mental confusion, aphasia, apraxia, seizures, and weakness. Here, we discuss the presentation, disease diagnosis process and patient management. Conclusion: The patient was stabilized and discharged with a referral to the neurosurgery and neurology departments for outpatient consultation for future clinical management and treatment of their condition.

Clinical and Radiological Parameters Affecting the Yield of Routine Electroencephalography in Various Indications.

To highlight the significance of various clinical and radiological parameters in association with specific electroencephalographic (EEG) patterns in order to prioritize EEG referrals. This retrospective, cross-sectional study was conducted in the neurology department of King Fahad University Hospital, Alkhobar, and involved a review and analysis of EEG and medical records pertaining to 604 patients referred for routine EEG. The data were analyzed using SPSS version 22. An association between various parameters and EEG yield was established. Factors associated with the yield of abnormal EEG patterns were diverse, like generalized tonic-clonic seizures (GTCs) (P =.05), status epilepticus (SE) (P =.05), altered level of consciousness (ALC) (P =.00), abnormal movement (P =.00), cardiac arrest (P =.00), prior history of epilepsy (P =.04), chronic renal disease (CRD) (P =.03), abnormal neurological exam (P =.00), and cortical lesions on brain imaging (P =.00). Among the abnormal EEG patterns, epileptiform activity (EA) in EEG was associated with focal seizures (P =.03), GTCs (P =.00), falls (P =.05), cardiac arrest (P =.00), a history of epilepsy (P =.00), and hypoxic ischemic injury (P =.03). Encephalopathy in EEG was also associated with focal sz (P =.02), GTCs (P =.00), SE (P =.01), ALC (P =.00), cardiac arrest (P =.00), history of stroke (P =.01), and epilepsy (P =.00). Among the studied parameters, patient level of consciousness, neurological exam findings, and neuroimaging findings, with some discrepancies, were found to be the most consistent in predicting the EEG yield. The study demonstrated the value of a proper neurological exam and careful selection of patients to gain the optimum benefit from the routine EEG.

Neuroleptic malignant syndrome in Huntington disease.

Despite the wide use of dopamine receptor blocking agents (DRBAs) in Huntington disease (HD), neuroleptic malignant syndrome (NMS) is rarely described in this population. The aim of this study was to assess NMS prevalence in a large cohort of HD patients and explore the main associated risk factors. In 2023, an HD patient was admitted to our neurology department due to NMS. Starting from the case description, we performed a narrative review of the literature of NMS cases in HD, reviewed data from the fifth dataset of the Enroll-HD (a longitudinal, observational, global study of families with HD) study (PDS5) selecting HD patients treated with DRBAs and/or tetrabenazine (TBZ) who presented at least one of the core symptoms of NMS (rigidity and hyperthermia), and collected data to investigate prevalence of NMS and identify risk factors. In the Enroll-HD PDS5 dataset, we identified 5108 of 11,569 HD patients who were undergoing DRBA and/or TBZ treatment. Only one patient, a Caucasian man of 46 years, undergoing clozapine and valproate treatment, had a registered diagnosis of NMS. NMS in HD patients is seldom described. This could be due to an underestimation of this condition. There are no available objective NMS diagnostic criteria at present, and the existence of atypical forms of NMS further complicates diagnosis. Advanced disease stage, rigid-akinetic phenotype, abrupt therapy changes, polytherapy, and dehydration are key risk factors, most of which are preventable through awareness and caution in managing medications in the HD population.

Is the combination of propranolol and flunarizine better than propranolol, flunarizine and amitriptyline alone in prophylaxis of migraine? An observational study at a tertiary care centre of North India

Background: Migraine is a primary headache disorder marked by recurrent attacks of pain and associated symptoms. Propranolol is traditionally considered highly effective for migraine prophylaxis, but other drugs have recently shown promise. Methods: This study was a prospective, observational, randomized, parallel-arm, unicentric trial conducted in the neurology department of a tertiary care hospital in North India. Patients with migraine without aura were randomly assigned to one of four treatment groups. After obtaining consent, patients were randomized using a random number table. Group 1 received propranolol (80 mg), group 2 received flunarizine (10 mg), group 3 received a combination of propranolol (40 mg) and flunarizine (10 mg), and group 4 received amitriptyline (10 mg) daily. The primary outcome was a change in the frequency of migraine days, while secondary outcomes included changes in moderate-to-severe headache days and disability levels. Results: The combination of propranolol (40 mg) and flunarizine (10 mg) was significantly more effective in reducing the frequency of migraine attacks at the end of 3 months compared to the group receiving amitriptyline (10 mg). However, no significant differences between the groups were observed at baseline, 1 month, and 2 months. For other outcomes, including adverse drug reactions (ADRs), there were no significant differences between the groups. Conclusions: The combination of propranolol (40 mg) and flunarizine (10 mg) demonstrated superior efficacy over amitriptyline (10 mg) after prolonged treatment, while its effectiveness was comparable to other groups at earlier time points. ADRs were similar across all groups.

Relevance of 123I-FP-CIT SPECT prescriptions for the diagnosis of parkinsonian syndromes

123I-FP-CIT SPECT enables the detection of presynaptic dopaminergic denervation. It allows to differentiate degenerative parkinsonian syndromes from secondary parkinsonian syndromes or essential tremor, and patients with suspected dementia with Lewy bodies from those with other dementia subtypes. The aim of our study was to evaluate the appropriateness of 123I-FP-CIT SPECT prescriptions, identify prescriber profiles and analyze changes in prescriptions over a decade in the Neurology department of Avicenne University hospital. This retrospective study included all patients who underwent 123I-FP-CIT SPECT between February 2009 and May 2019 (n = 723). Clinical and paraclinical data were compared between three groups based on the relevance of 123I-FP-CIT SPECT prescription: “inappropriate”, “uncertain” and “relevant”. We showed that inappropriate indications accounted for 37.5% of 123I-FP-CIT SPECT requests. Hospital neurologists and neurologists with mixed practice accounted for 74.1% of 123I-FP-CIT SPECT requests, hospital movement disorders specialists being more likely to prescribe appropriately (67.1%) than hospital non-movement disorders specialists (33.3%). Following the replacement of the neuro-oncology team with a team including movement disorders specialists, the percentage of relevant SPECT 123I-FP-CIT prescriptions rose from 37.5% to 81.0%. These observations suggest that seeking the expertise of a movement disorders specialist would be more relevant than the systematic prescription of 123I-FP-CIT SPECT.

Bridging the Gap: Improving Acute Ischemic Stroke Outcomes with Intravenous Thrombolysis Prior to Mechanical Thrombectomy.

Current guidelines recommend intravenous thrombolysis (IVT) followed by mechanical thrombectomy (MT) for patients with acute ischemic stroke (AIS) caused by large vessel occlusion (LVO). This combined approach, known as bridging therapy (BT), is believed to increase the likelihood of a favorable functional outcome when administered within 4.5 h of symptom onset. However, the benefits of BT over direct mechanical thrombectomy (d-MT) remain debated. This study aimed to compare the outcomes of AIS-LVO patients undergoing MT within 6 h of symptom onset, with and without prior IVT. Within the prospective Transzlációs Idegtudományi Nemzeti Laboratórium (TINL) STROKE-registry, AIS-LVO patients admitted to the Department of Neurology, University of Pécs between February 2023 and June 2024 were investigated. The primary endpoint was the proportion of patients reaching functional independence at 90 days, defined as a modified Rankin Scale (mRS) score of 0-2. Secondary endpoints included clinical improvement at 72 h (National Institute of Health Stroke Scale [NIHSS] score of ≤1 or a change from baseline [ΔNIHSS] of ≥4) and successful recanalization (modified Thrombolysis in Cerebral Infarction [mTICI] score ≥ 2). Safety outcomes were evaluated based on thrombus migration and intracranial hemorrhage (ICH). Results were compared using linear and logistic regression analyses adjusted for baseline variables. Of 82 patients, 51 (62.2%) received BT, while 31 (37.8%) underwent d-MT. The BT group showed a significantly higher rate of functional independence (45.7% vs. 17.2%, p = 0.014) and a lower 90-day mortality rate (13.7% vs. 35.5%, p = 0.029). Multivariate analysis revealed that IVT was independently associated with favorable functional outcomes (p = 0.011) and reduced mortality (p = 0.021). No significant differences were observed in terms of clinical improvement at 72 h, successful recanalization, thrombus migration, or hemorrhagic transformation between the groups. This study supports current guidelines recommending BT for thrombectomy-eligible AIS-LVO patients, offering new insights into the ongoing clinical debate.

Clinical characteristics and genetic analysis of mental retardation disorder with TRIO gene variant

Objective: To summarize the clinical and genetic characteristics of mental retardation disorder (MRD) with TRIO gene variant in children. Methods: Case series study. The data of 9 children with TRIO gene variants were collected retrospectively from August 2019 to March 2024 in Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University. The data included gender, age, intellectual and motor development, appearance, seizures, neuroimaging and genetic results. The clinical features and genotype-phenotype correlations were summarized. Results: Of the 9 children, 6 boys and 3 girls, 4 MRD63 children presented with moderate to severe developmental delays accompanied by macrocephaly; 5 MRD44 children had mild to moderate developmental delays with microcephaly. A total of 5 children had dysmorphic facial features (flat occiput, thick eyebrows, unibrow, large ears, short fingers, pale skin, yellow hair, and strabismus), 2 children experienced seizures (1 child with myoclonic seizure and 1 with absence seizure), 4 children had feeding difficulties, 1 child had congenital cataracts, 1 child had congenital heart disease, 1 child had recurrent infections, and 1 child had tiger-striped changes in the fundus examination. TRIO gene variants carried by the 9 children were all de novo, involving 8 variant sites, including 7 missense variants and 1 frameshift variant, c.3232C>T/p.R1078W (2 cases), c.3920A>G/p.Y1307C, c.4112A>T/p.H1371L, c.4283G>T/p.R1428L, c.4394A>G/p.N1465S, c.6041T>C/p.I2014T, c.6821G>A/p.R2274H, c.7027delC/p.Q2343Sfs*70. Among them, 2 sites are located in the Spectrin domain, 4 sites are in the GEFD1 domain, 2 sites are in the GEFD2 domain, and 1 site (frameshift variant) is in the PH2-SH3 domain. The individual with frameshift variant exhibit absence seizures, mild developmental delay, and the mildest phenotype. The child with myoclonic seizures was treated with valproic acid and levetiracetam for seizure control, while the child with absence epilepsy was treated with valproic acid and lamotrigine for seizure control. All 9 children underwent regular rehabilitation exercises, making slow progress. Conclusions: TRIO gene related MRD is characterized by varying degrees of developmental delay, and often accompanied by macrocephaly or microcephaly, dysmorphic facial features, and with or without seizures. The main variant types are missense variants, which are mostly concentrated in the Spectran domain and GEFD domain. p. R1078W may be a relative hotspot variant. The phenotype caused by the frameshift variant is relatively milder.

Post-stroke fatigue and its correlation with family functioning in patients who have experienced a first episode of stroke.

This study aimed to analyse the relevant factors that may affect post-stroke fatigue (PSF) in patients with stroke and further explore the correlation between family functioning and PSF. Patients who had experienced a first episode of stroke and were admitted to the Department of Neurology of the First Affiliated Hospital of Wenzhou Medical University were rigorously screened. The general data and family functioning of the patients on admission were collected, and their family adaptation, partnership, growth, affection and resolve scores and their PSF on the 5th day of admission were collected using the fatigue severity scale (FSS). Multiple linear regression analysis was then utilized to explore the factors affecting PSF in patients with stroke. A total of 220 questionnaires were distributed, and 220 were returned, with 212 valid questionnaires and a valid return rate of 96.4%. These 212 patients had a family functioning score of 6.58 ± 2.00 and an FSS score of 36.62 ± 10.96. Spearman's correlation analysis showed negative correlations between the FSS scores and the adaptation, partnership, growth, affection, resolve and family functioning scores (r = -0.380, -0.505, -0.470, -0.303, -0.281 and -0.712, respectively; p < 0.001). Furthermore, multiple linear regression analysis showed that family functioning (β' = -0.516), marital status (β' = -0.244), household income (β' = -0.185), literacy (β' = -0.181) and activities of daily living (β' = -0.084) were influential factors for PSF in patients with stroke (p < 0.05). There is a significant negative correlation between family functioning and PSF, suggesting that better family functioning may help mitigate the severity of post-stroke fatigue. Healthcare providers should identify interventions to help patients and families address fatigue, boost disease recovery, promote patients' physical and mental health and improve their quality of life.

Clinical characteristics of children with MT-TK gene m.8344A>G variation

Objective: To summarize the clinical characteristics of children carrying the m.8344A>G variant of MT-TK gene. Methods: A case series study was conducted to retrospectively collect data of 22 children with mitochondrial disease caused by MT-TK gene m.8344A>G variation who were treated at the Department of Neurology of Beijing Children's Hospital of Capital Medical University from January 2012 to January 2024. Their clinical data, laboratory tests, muscle pathology, genetic testing, and the follow-up results were analyzed. Pearson correlation analysis was used for correlation analysis. Results: Among the 22 children, there were 13 boys and 9 girls. The age of onset was 5.00 (2.75, 9.00) years. Fifteen children had myoclonic epilepsy with ragged-red fibers (MERRF), 3 had Leigh syndrome (LS), and 4 had LS-MERRF overlap syndrome (LS-MERRF). Myoclonus presented and worsened progressively in all 15 MERRF children, with 10 as the initial symptom and 5 developing progressively during the disease course. Myoclonus was predominantly focal, worsening with fine motor tasks or stress. Electroencephalogram monitoring in the 15 MERRF children revealed myoclonic seizures in 10 children, with 6 classified as myoclonic epilepsy, and 4 as subcortical myoclonus. Two children had generalized myoclonic seizures, and 1 each had absence seizures and generalized seizures. Twelve children had cerebellar ataxia, 10 children exhibited exercise intolerance, and 8 children had muscle weakness. Magnetic resonance imaging (MRI) revealed periventricular white matter involvement in 1 child and bilateral hippocampal involvement in 1 child, likely due to frequent seizures. All 3 children with LS exhibited developmental regressions, accompanied with 2 symptoms include cerebellar ataxia, muscle weakness, and dysphagia. The clinical manifestations of 4 LS-MERRF overlap children presented with combined features of MERRF and LS. Cranial MRI in the 7 LS and LS-MERRF children showed brainstem involvement (all affecting the midbrain) in 6 children and basal ganglia involvement in 4 children. Among the 22 children, 12 had m.8344A>G variant levels >90%, 3 had >80%-90%, 4 had >70%-80%, and 3 had >60%-70%. Higher variant level correlated with the LS phenotype and earlier onset age (r=0.47, -0.50; P=0.018 and 0.029, respectively). Sanger sequencing in 19 mothers revealed m.8344A>G variations in 18, with 4 showing exercise intolerance. Follow-up of 13 children on antimyoclonic treatment showed>75% reduction in seizures with levetiracetam monotherapy in 2 children, with combination therapy required in others. Most achieved >50% seizures reduction within 2 years, but the effectiveness declined with disease progression. Conclusions: The m.8344A>G variant is rare, with MERRF being the most common phenotype, while LS and LS-MERRF are less common. Children with higher ratio of the m.8344A>G variant are more likely to present LS phenotype. Myoclonus, primarily focal, is a key feature, with levetiracetam as the first-line treatment and benzodiazepines recommended for refractory cases.

Stiripentol for the treatment of refractory status epilepticus

BackgroundStatus epilepticus (SE) is one of the most common neurological emergencies and an acutely life-threatening condition characterized by high mortality and morbidity. Despite the well-established staged therapy of status epilepticus, especially stages 1 and 2, more than one third of patients develop (super-) refractory SE. Despite a large variety of potential treatment options for super-refractory SE, there is an unmet clinical need of potential new treatment ideas in this often desperate clinical situation.A number of studies have demonstrated the safety and efficacy of stiripentol (STP) in patients with Dravet syndrome (DS) and in children with focal epilepsy and generalized epilepsies. Some smaller series and case reports have documented the use of STP in the treatment of status epilepticus in adult patients.MethodsWe retrospectively analyzed all patients who were admitted to the Department of Neurology at Marburg University Hospital between 2013 and 2023 with a diagnosis of (super)-refractory status epilepticus and who received additional treatment of SE with STP. All patients who received STP during the SE were included, regardless of previous medication.ResultsSE ceased in 64% of 25 patients (13 female and 12 male). The mean age was 58.6 ± 21.9 years (mean ± SD). 72% had a structural epilepsy. In 20% of patients, SE was terminated by the administration of STP alone in 32% of cases, while in a further 32% of patients, the simultaneous administration of multiple anti-seizure medications (ASMs) including STP was potentially responsible for the cessation of the SE, with valproic acid (VPA), benzodiazepines and STP, being the most frequently implicated ASMs. In 12% of patients, there was at least a temporary improvement in the electroencephalogram (EEG). Stiripentol had to be discontinued in three cases due to a reduction in vigilance or hypercalcemia.ConclusionsStiripentol may represent a promising additional treatment option for refractory and super-refractory status epilepticus. The tolerability of this treatment has already been demonstrated in previous studies, and was also reflected in these data. Further prospective investigation in larger patient populations are necessary to ascertain the efficacy of stiripentol in SE.Trial registrationNCT06540378, retrospectively registered.

Clinical features of KCNB1 gene variation related developmental and epileptic encephalopathy

Objective: To summarize the clinical features of epilepsy and (or) developmental delay associated with KCNB1 gene variants in children. Methods: A case series study was conducted on 24 children with KCNB1 gene variants associated with epilepsy and (or) developmental delay who were treated at the Children's Medical Center of Peking University First Hospital and the Department of Neurology of Shenzhen Children's Hospital from July 2015 to June 2024. The manifestations of seizures, electroencephalogram (EEG) and genetic test results of those children were analyzed. Results: All the KCNB1 gene variants were de novo, involving 20 different variation, including 15 missense variations, 3 frameshift variations and 2 nonsense variations. There were 7 novel variations. Among the 24 developmental and epileptic encephalopathy children, there were 14 boys and 10 girls. The last follow-up age ranged from 9 months to 13 years and 9 months. Seizures were present in 21 children (88%), with onset ranging from 1 month to 7 years, and 76% (16/21) began before 2 years of age. The seizure types included focal seizures in 15 children (71%), epileptic spasms, myoclonic seizures, and generalized tonic-clonic seizures in 6 children respectively, atypical absence seizures in 4 children, and myoclonic atonic seizures in 1 child. Seventeen children (81%) had a cluster of seizures and 5 had a history of focal status epilepticus with impaired consciousness. All 24 children had varying degrees of developmental delay, with 3 presenting solely developmental delay. EEG abnormalities were present in all the 21 children with seizures, including focal or multifocal discharges in 20 children, generalized discharges in 10 children, hypsarrhythmia in 2 children, and electrical status epilepticus during sleep in 3 children. Magnetic resonance imaging abnormalities were found in 5 of the 24 children. Among the 21 children with seizures, 57% (12/21) achieved seizure control. Conclusions: KCNB1 gene variants are predominantly de novo missense variation. Most affected children present with epilepsy, though some may exhibit only developmental delay. Epilepsy often begins before 2 years of age, with focal seizures being the most common type. About 80% of patients experience clustered seizures. Although most patients achieve seizure control, they still exhibit varying degrees of developmental delay, consistent with developmental epileptic encephalopathy.

Analyzing the Impact of Rehabilitation Utilizing Neurofunctional Exercises on the Functional Status of Stroke Patients.

Background/Objectives: Physical rehabilitation based on neurofunctional exercises can have a positive impact on restoring functionality and enhancing the quality of life of these individuals. Therefore, the purpose of this study is to analyze the effects of rehabilitation, including neurofunctional exercises, on the functional status of stroke patients. Methods: The cohort study design included 102 male and female participants: 51 patients underwent physiotherapy rehabilitation including neurofunctional exercises (SG), while the other 51 did not follow a rehabilitation program based on neurofunctional exercises (CG). The participants were assessed twice: once during their stay in the early neurology department after the first stroke, and again six months later. The assessments were conducted using the Barthel Scale (BS), the Rankin Scale (RS), and the National Institutes of Health Stroke Scale (NIHSS). Results: Baseline comparisons revealed significantly greater BS (p = 0.001) in the CG compared to the SG. Conversely, the SG had a significantly higher NIHSS than the CG at baseline (p = 0.001), as well as higher RS (p < 0.001). Within the SG, there were significant increases in BS (p < 0.001), while no significant differences were found between baseline and post 6 months in RS (p = 0.537) and NIHSS (p = 0.475). Regarding the CG, significant increases were observed in BS (p = 0.005) and NIHSS (p < 0.001), while no significant differences were found in RS (p = 0.335). Conclusions: In conclusion, this study reveals that incorporating neurofunctional exercises does not appear to play a significant role in the patients' progress. The controlled group, engaged in home-based activities, showed greater improvements in their condition.

Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.

Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the heterogeneous etiology of GDD, diagnostic procedures and algorithms are complex and diverse. The aim of our study was to investigate the diagnostic yield of genetic, metabolic, and imaging studies in establishing the etiology of unexplained GDD (UGDD). In this retrospectively observational study, we examined the medical records of all children diagnosed with UGDD at the Department of Pediatric Neurology, University Medical Centre Ljubljana, Slovenia, between January and December 2019. We evaluated the effectiveness of various genetic, metabolic, and magnetic resonance imaging (MRI) tests in identifying the underlying cause of GDD. Additionally, we assessed subgroups of patients to determine whether any of the studied tests were particularly beneficial based on their clinical symptoms. A total of 123 patients met the inclusion criteria, with a median age of 4.3 years (range, 0-16 years), of which 71 (57.7%) were males. Genetic diagnosis was established in 47.1% (58/123) of patients. Metabolic laboratory testing did not identify a metabolic disease in any of the tested participants (114/123) and MRI was critical for diagnosis in only 1/81 (1.2%) patient. Our findings strongly suggest that genetic testing surpasses MRI and metabolic testing in establishing the etiology of UGDD in a pediatric neurology outpatient setting. This information will help guide the diagnostic evaluation of these children.

Mitigating overuse of antinuclear antibody (ANA) testing through educational intervention: a study in internal medicine and neurology departments.

Overuse of antinuclear antibody (ANA) tests leads to increased costs, false positives, and unnecessary treatments. This study evaluated ANA overuse in internal medicine and neurology departments and assessed the impact of an educational intervention. This quality improvement educational intervention study examined ANA test overuse in five internal medicine departments and one neurology department at a university-affiliated medical center. The educational intervention included a session focusing on ANA testing appropriateness. Outcome measures comprised the ANA/new patient ratio (APR) and the percentage of positive ANA test results. Outcomes were compared between the pre- and post-intervention periods (both 6months). The intervention took place in December 2021. The APR decreased from 43% in the pre-educational intervention period to 27% in the post-intervention period in the neurology department (odds ratio [OR] 0.49, confidence interval [95% CI] 0.37-0.63, P < 0.0001) and from 2.6% to 2.2% in the internal medicine departments (OR 0.89, 95% CI 0.73-1.10, P = 0.28). The percentage of positive ANA tests increased from 43% pre-intervention to 53% in the post-intervention period (OR 1.49, 95% CI 0.90-2.46, P = 0.12) in the neurology department and from 48% to 59% (OR 1.56, 95% CI 0.99-2.44, P = 0.0543) in the internal medicine departments. A simple educational intervention reduced unnecessary ANA testing in the neurology department but not in internal medicine departments, improving patient selection and potential cost savings. The results underscore the importance of targeted education to promote evidence-based behavior among healthcare professionals. Further research with longer follow-up is needed to assess the sustainability of these improvements.