OBJECTIVES: Although sensory nerve abnormalities have been reported in amyotrophic lateral sclerosis (ALS), their distribution at diagnosis, relative to motor involvement and clinical onset phenotype remains incompletely...OBJECTIVES: Although sensory nerve abnormalities have been reported in amyotrophic lateral sclerosis (ALS), their distribution at diagnosis, relative to motor involvement and clinical onset phenotype remains incompletely characterized. We aimed to systematically compare sensory and motor nerve conduction abnormalities at ALS diagnosis and determine whether sensory involvement follows an onset-dependent pattern similar to motor dysfunction. METHODS: In this prospective cross-sectional study, 40 newly diagnosed ALS patients enrolled in the Iran University ALS Registry (March 2022-March 2023) underwent standardized motor and sensory nerve conduction studies (NCS). For between-group comparisons, a matched ALS subgroup was compared with matched healthy controls, while the expanded ALS cohort was used for subgroup and correlation analyses. RESULTS: SNAP amplitudes of the median, ulnar, and sural nerves were reduced by 45%, 34%, and 43%, respectively, compared with healthy controls, with similar reductions observed across upper- and lower-limb onset phenotypes and no significant onset-dependent differences. In contrast CMAP amplitudes were markedly reduced in ALS patients, most prominently in the peroneal (79%), median (47%), tibial (42%), and ulnar (37%) nerves. Motor abnormalities were most severe in the clinically affected limb but were also detectable in asymptomatic extremities, consistent with early subclinical spread. CONCLUSION: At ALS diagnosis, sensory and motor nerve conduction abnormalities exhibited divergent spatial patterns, with asymmetric, onset-related motor involvement and relatively uniform sensory axonal dysfunction. These findings support the presence of measurable sensory nerve conduction abnormalities in a subset of ALS patients, while highlighting the need for cautious interpretation of sensory NCS changes in ALS.
Sepe FN, Giammello F, Fiume G
… +10 more, Rizzo F, Romoli M, Mosconi MG, Bagnato MR, Foschi M, Colonna I, Caccamo M, Storti B, Ornello R, Italian Stroke Association (ISA) - Young
BACKGROUND: Positron Emission Tomography (PET) is emerging as a valuable imaging modality in cerebrovascular disease, especially for detecting neuroinflammation and β-amyloid deposition in conditions such as primary angi...BACKGROUND: Positron Emission Tomography (PET) is emerging as a valuable imaging modality in cerebrovascular disease, especially for detecting neuroinflammation and β-amyloid deposition in conditions such as primary angiitis of the central nervous system (PACNS) and cerebral amyloid angiopathy (CAA). Despite its potential, PET remains underutilized due to limited availability, high costs, and lack of standardized protocols. This scoping review synthesizes current evidence on the diagnostic and prognostic applications of PET in adult cerebrovascular disorders. METHODS: We systematically searched PubMed and Scopus through February 2026 using combinations of cerebrovascular and PET-related terms (e.g., "stroke," "CAA," "vasculitis," "FDG," "PiB," "amyloid"). Eligible studies employed PET tracers such as ^18F-FDG, ^11C-PiB, or ^18F-florbetaben; followed observational designs (cohort, cross-sectional, or case series); and reported clinical outcomes including stroke recurrence or cognitive decline. Risk of bias was assessed with the Newcastle-Ottawa Scale. RESULTS: Among 10287 records screened, 42 met inclusion criteria. PET was most applied in CAA, and cryptogenic intracerebral hemorrhage. Amyloid PET demonstrated high sensitivity (85-91%) but limited specificity in diagnosing probable CAA. FDG-PET effectively identified vasculitic and inflammatory patterns, particularly in carotid arteries. Uptake patterns were associated with future stroke or cognitive deterioration in select cohorts. CONCLUSION: PET imaging provides meaningful diagnostic and prognostic information in complex cerebrovascular cases. Further validation across centers and standardisation of acquisition and analysis protocols are needed to optimize clinical integration.
Anghileri E, Marcassoli A, Villani V
… +17 more, Didato G, Milanaccio C, Pasini E, Bennicelli E, Persico P, Bini P, Berzero G, Mastronuzzi A, Filippi M, De Palma L, Arcara G, Bellini A, Maschio M, Pace A, Farinotti M, Silvani A, National Virtual Institute of Italian Network of Neuroscience
BACKGROUND: Brain tumour-related epilepsy is a frequent and disabling complication of primary and metastatic brain tumours, requiring multidimensional and coordinated management. However, specific guidelines and standard...BACKGROUND: Brain tumour-related epilepsy is a frequent and disabling complication of primary and metastatic brain tumours, requiring multidimensional and coordinated management. However, specific guidelines and standardized care pathways for this condition are still lacking. This study aimed to assess the current organization of care for brain tumour-related epilepsy within the Italian Network of Neuroscience and Neuro-rehabilitation Research Institutes. METHODS: A national, multicentre survey was conducted across participating centres between April and June 2024, with follow-up validation in December 2025. The questionnaire investigated human resources, technological availability, clinical pathways, and management strategies. Data were analysed descriptively. RESULTS: Ten centres participated. All reported adopting a multidisciplinary approach, although with marked variability in team composition, expertise, and resources. Core specialists were available in most centres, while paediatric expertise was often lacking. Advanced neurophysiological monitoring and antiseizure medication level assessment were not uniformly accessible. Magnetic Resonance imaging was widely available, whereas Positron Emission Tomography was less consistently implemented. No centre had a dedicated clinical pathway for brain tumour-related epilepsy, despite the presence of pathways for brain tumours and epilepsy separately. Neuropsychological and comorbidity assessments were inconsistently integrated into care. CONCLUSIONS: These findings highlight significant heterogeneity in the management of brain tumour-related epilepsy, even in highly specialized settings. The development of dedicated, standardized clinical pathways is needed to harmonize care and improve patient outcomes.
BACKGROUND: Progressive supranuclear palsy (PSP) causes falls, dysphagia, pneumonia, fractures, and death, but routine-care timelines and diagnostic-delay survival analyses remain limited. METHODS: We retrospectively stu...BACKGROUND: Progressive supranuclear palsy (PSP) causes falls, dysphagia, pneumonia, fractures, and death, but routine-care timelines and diagnostic-delay survival analyses remain limited. METHODS: We retrospectively studied 68 patients with probable PSP at a Japanese single center. Outcomes were intervals from symptom onset to first visit, probable PSP diagnosis, aspiration pneumonia admission, fracture hospitalization, and death. Patients were grouped by the median onset-to-diagnosis interval (1005.5 days). Survival was analyzed from onset and diagnosis. Sensitivity analyses modeled delay continuously and using 24-, 36-, and 48-month cut-offs; competing risks used Aalen-Johansen estimates. RESULTS: Screening identified 81 patients; 68 remained after chart review. Median onset-to-first visit and onset-to-diagnosis intervals were 24.8 and 33.0 months. Among observed events, median onset-to-aspiration pneumonia admission and onset-to-death intervals were 58.8 and 62.2 months; median diagnosis-to-death among deceased patients was 27.1 months. Death occurred in 26/68 patients (38.2%). Early and Delayed groups had identical death counts (13/34 each), but onset-origin survival differed (log-rank p=0.0013), whereas diagnosis-origin survival did not (p=0.8657). Sensitivity analyses showed the same onset-origin pattern. CONCLUSIONS: Diagnostic delay was substantial, and severe outcomes accumulated over several years. Survival differences by delay group depended on time origin, censoring, and residual selection, and should not be interpreted causally. These timelines may support surveillance and anticipatory care planning in PSP.
BACKGROUND: People with multiple sclerosis (pwMS) are rapidly aging, yet the clinical and functional profile of older individuals remains poorly characterized. OBJECTIVE: Our study aimed to describe the demographic, clin...BACKGROUND: People with multiple sclerosis (pwMS) are rapidly aging, yet the clinical and functional profile of older individuals remains poorly characterized. OBJECTIVE: Our study aimed to describe the demographic, clinical, cognitive, functional, and psychosocial features of pwMS aged ≥ 60 years in the Genoa province, and identify predictors of cognitive and motor decline. METHODS: In this cross-sectional study, 109 pwMS aged 60-89 years were evaluated via structured telephone interviews. Collected variables included demographics, disability (SRDSS), mobility, comorbidities, dysphagia (DYMUS), pain (NRS, DN4), fatigue, urinary and fecal dysfunction, spasticity, cognitive function (Telephone-MoCA), depressive symptoms, and the level of independence. Multivariate logistic and ordered logistic regressions examined predictors of cognitive, motor, and clinical outcomes. An exploratory regression model estimated age-related cognitive and motor trajectories. RESULTS: Of the 109 participants (median age 71 years), 43 subjects were < 70 and 66 ≥ 70 years old. Participants showed high disability, widespread mobility limitation, fatigue (96%), urinary dysfunction (78%), and cognitive impairment (median MoCA 10). Older age was associated with worse cognition, greater dependence on instrumental activities of daily living, and higher dysphagia. In multivariate models, education predicted MoCA performance, and pain was independently associated with female sex and comorbidity burden. The age-trajectory model revealed a nonlinear acceleration of decline after 72-73 years, with cognition deteriorating earlier and faster than mobility. CONCLUSIONS: Aging pwMS exhibit a substantial multidimensional burden. Cognitive decline accelerates in advanced age and precedes motor deterioration, underscoring the need for early cognitive monitoring and integrated, geriatric-informed care strategies.
De Toma C, Potenza A, Rifino N
… +21 more, Strazzabosco C, Storti B, Marinoni G, Carrozzini T, Gorla G, Pollaci G, Pasella E, Mallia A, Canavero I, Boncoraglio GB, Scala I, Zacarias E, Fusi G, De Giorgi F, Foschi M, Sacco S, Caulo M, Banfi C, Gatti L, Bersano A, ALIGNED project
INTRODUCTION: Cerebrovascular diseases are a major cause of morbidity/mortality worldwide, yet more than 30% of strokes remain of undetermined origin. Rare cerebrovascular diseases (rCVDs) contribute to this burden but a...INTRODUCTION: Cerebrovascular diseases are a major cause of morbidity/mortality worldwide, yet more than 30% of strokes remain of undetermined origin. Rare cerebrovascular diseases (rCVDs) contribute to this burden but are often underdiagnosed due to limited awareness, clinical heterogeneity, and fragmented diagnostic access. The ALIGNED project was established to address these gaps through a nationwide multidisciplinary network. METHODS: ALIGNED was aimed to improve clinical/molecular characterization of rCVDs through standardized data collection, assess level of care of rCVDs by an online/on-site survey and reduce the geographical gap across Italy, by a virtual model of rCVDs care. In the first phase we conducted a survey to evaluate the availability of diagnostic/therapeutic pathways. Preliminary molecular profiling (i.e., transcriptomic/proteomic analyses) has been carried out on middle-cerebral artery and plasma samples from Moyamoya angiopathy (MMA) patients. RESULTS: Fourty-nine centers adhered to the project. Initially, we collected a cohort of 308 subjects with rCVDs: CADASIL (162), COL4A1/A2-related disease (9), Sneddon syndrome (25), Fabry disease (32), and MMA (80). Web-based survey and site visits provided a representative overview of national capabilities in rCVD diagnosis and care. Transcriptomic analysis showed a peculiar expression profile of angiogenesis growth factors/inhibitors in MMA cerebral vessels. Plasma proteomic profiles of MMA patients highlighted circulating proteins expressed in dysfunctional angiogenesis. DISCUSSION: Preliminary data suggested a substantial variability in the quality of rCVDs management and in the availability of diagnostic tools across Italy. Thus, mapping Italian expertise and facilities emerged as a crucial target for pinpointing gaps, improving resource allocation, standardizing rCVD care to guarantee equitable access for patients.
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) refers to a group of disorders with characteristic iron deposition in the basal ganglia. As an NBIA disorder, hereditary neuroferritinopathy is unique for...BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) refers to a group of disorders with characteristic iron deposition in the basal ganglia. As an NBIA disorder, hereditary neuroferritinopathy is unique for its autosomal dominant inheritance pattern and the direct defect in iron metabolism. Caused by pathogenic variants in the FTL and FTH1 genes encoding ferritin light and heavy chains respectively, neuroferritinopathy presents clinically with a combination of dystonia, spasticity, parkinsonism, dysarthria, and cognitive decline. FTH1-related neuroferritinopathy is an exceedingly rare form which, unlike FTL-related neuroferritinopathy, typically presents in infancy. METHODS AND RESULTS: Using whole-exome sequencing, we identified a novel variant in FTH1, c.465_466insG; p.Leu156Valfs*17 in two brothers, confirmed by Sanger sequencing. To better understand FTH1 and its related disorders, especially neuroferritinopathy, we conducted a systematic search of the literature and identified seven variants in FTH1, four of which caused neuroferritinopathy. CONCLUSIONS: Here we report an Iranian FTH1-related neuroferritinopathy family carrying a novel variant. All neuroferritinopathy-related variants, including ours, result in frameshift and are located within the last exon. Contrary to previous cases, this study reports two brothers presenting with a late-onset form of the disease, with normal development. The location of the variant, gender, or the presence of other genetic, epigenetic or environmental factors might explain this clinical trajectory. Our findings emphasize the need to characterize individual FTH1 variants as not all of them have the same consequences and to consider FTH1 in patients with unexplained movement disorders and brain magnetic resonance imaging evidence of iron accumulation across a wider age range.
BACKGROUND: Glioblastomas (World Health Organization [WHO] grade 4) are the most lethal primary brain tumors, with a median overall survival (OS) of 12-15 months despite multimodal treatment. MGMT promoter methylation an...BACKGROUND: Glioblastomas (World Health Organization [WHO] grade 4) are the most lethal primary brain tumors, with a median overall survival (OS) of 12-15 months despite multimodal treatment. MGMT promoter methylation and TERT promoter mutations are key prognostic biomarkers, but their combined utility remains incompletely defined. This study evaluated the prognostic effects of MGMT methylation, TERT mutations, and adjuvant treatment. METHODS: We retrospectively analyzed 65 patients with gliomas treated between January 2013 and December 2024, with primary analyses restricted to WHO grade 4 tumors (n = 54). MGMT methylation was assessed by methylation-specific PCR and TERT mutations (C228T/C250T) by Sanger sequencing. Survival was analyzed using Kaplan-Meier methods and multivariable Cox regression with bootstrap validation. RESULTS: In the grade 4 cohort, median OS was 12.7 months. MGMT methylation was present in 50.0% and TERT mutations in 68.5%. MGMT methylation independently predicted improved survival (aHR 0.45, 95% CI 0.24-0.87, p = 0.018), while TERT mutation predicted worse survival (aHR 2.93, 95% CI 1.46-5.87, p = 0.003). Adjuvant chemoradiotherapy was associated with improved OS (aHR 0.44, 95% CI 0.24-0.81, p = 0.008). Combined stratification identified four prognostic subgroups, with MGMT-methylated/TERT-wild-type patients showing the longest survival (median OS 19.0 months). The model demonstrated acceptable discrimination (C-index 0.697). CONCLUSIONS: MGMT methylation and TERT mutations are independent prognostic markers in glioblastoma. This study provides real-world evidence that both biomarkers retain prognostic value after adjustment for adjuvant treatment within an internally validated model. Combined MGMT/TERT assessment provides clinically meaningful four-tier risk stratification and supports routine prognostic evaluation.
BACKGROUND: Adrenomyeloneuropathy (AMN), an adult-onset form of X-linked adrenoleukodystrophy (X-ALD), is caused by pathogenic mutations in ABCD1 gene. CASE: We reported a 60-year-old Chinese male with 15-year chronic pr...BACKGROUND: Adrenomyeloneuropathy (AMN), an adult-onset form of X-linked adrenoleukodystrophy (X-ALD), is caused by pathogenic mutations in ABCD1 gene. CASE: We reported a 60-year-old Chinese male with 15-year chronic progressive spastic paraplegia without symptoms suggesting adrenal insufficiency. RESULTS: Critical findings included abnormal plasma very long-chain fatty acids (VLCFAs), slightly elevated ACTH, and a novel pathogenic ABCD1 mutation (c.172_198delinsACGCAGGA, p.Ser58Thrfs*4) confirmed by genetic testing, which established the AMN diagnosis. CONCLUSION: Our case underscores that VLCFA analysis combined with ABCD1 sequencing is essential for diagnosing AMN in adult-onset spastic paraplegia and further illustrates the phenotypic heterogeneity and imperfect genotype-phenotype correlation in X-ALD via this severe truncating mutation with benign late-onset presentation.
BACKGROUND: Neurofilament light chain protein and glial fibrillary acidic protein have been proposed as potential blood biomarkers for multiple sclerosis. However, their diagnostic and prognostic values across different...BACKGROUND: Neurofilament light chain protein and glial fibrillary acidic protein have been proposed as potential blood biomarkers for multiple sclerosis. However, their diagnostic and prognostic values across different subtypes and disease activity patterns remain unclear. METHODS: We systematically searched major databases (inception to February 13, 2025). A total of thirteen studies including 4,016 individuals were incorporated. A random-effects meta-analysis methodology was applied to assess the forecasting capabilities of NfL and GFAP concerning multiple sclerosis relapses and the advancement of disability. Subgroup examinations were executed according to disease classifications and the observed activity levels. RESULTS: Treated as a continuous measure, NfL exhibited a 4% increase in risk for adverse events with each individual unit escalation (RR = 1.04, 95% CI: 1.01-1.06, P < 0.001). Subgroup analyses revealed that predictive power was stronger in RRMS compared with mixed type (RR = 3.82 vs. 1.03, P < 0.01), and was statistically significant for neurodegenerative progression (EDSS worsening without inflammation) (RR = 1.03, P < 0.05). Using a threshold, NfL levels above the cutoff increased risk 2.61-fold (RR = 2.61, 95% CI: 1.74-3.92). GFAP showed no significant overall prognostic value (RR = 1.01, P = 0.18), with no subgroup differences. CONCLUSION: NfL is a sensitive biomarker for RRMS and neurodegenerative progression, with its value dependent on subtype and activity pattern. No evidence supports GFAP as an independent prognostic marker. Precise MS subtyping is crucial for clinical biomarker application.
INTRODUCTION: Subclinical impulsive-compulsive behaviors (s-ICBs) in Parkinson's disease (PD) are common, clinically relevant, and frequently underdiagnosed. Objective behavioral measures reflecting vulnerability to impu...INTRODUCTION: Subclinical impulsive-compulsive behaviors (s-ICBs) in Parkinson's disease (PD) are common, clinically relevant, and frequently underdiagnosed. Objective behavioral measures reflecting vulnerability to impulsive-compulsive behavior are lacking. We investigated whether oculomotor measures of inhibitory control are associated with s-ICBs in dopaminergically treated PD patients without clinically manifest impulse control disorders. METHODS: Twenty-nine patients with PD (Hoehn and Yahr stages 1-2) and twenty age-matched healthy controls completed prosaccade and antisaccade eye-tracking tasks. Executive functioning, trait impulsivity, quality of life and s-ICBs were assessed. Group comparisons and association analyses were performed using nonparametric methods with false discovery rate correction. Exploratory mediation analysis examined relationships between levodopa equivalent daily dose (LEDD), s-ICBs severity, and express prosaccades. All assessments were performed in the ON-medication state. RESULTS: Compared with healthy controls, patients with PD showed a higher frequency of express prosaccades and prolonged antisaccade latencies. Within the PD group, express prosaccades were moderately to strongly associated with s-ICBs severity and LEDD and were also related to reduced quality of life. Mediation analysis revealed a significant statistical indirect effect of dopaminergic medication on express prosaccades through s-ICBs severity, indicating that behavioral symptoms statistically accounted for a substantial proportion of this association. CONCLUSIONS: These findings demonstrate a close relationship between oculomotor control, subclinical impulsive-compulsive behaviors, and dopaminergic treatment in PD. The results highlight the complexity of non-motor manifestations in PD and underscore the need for longitudinal and mechanistic studies to clarify their clinical significance.
INTRODUCTION: Corticobulbar symptoms, including dysarthria and dysphagia, are frequent manifestations of Huntington's disease, yet evidence on speech and swallowing rehabilitation remains limited. This study explored the...INTRODUCTION: Corticobulbar symptoms, including dysarthria and dysphagia, are frequent manifestations of Huntington's disease, yet evidence on speech and swallowing rehabilitation remains limited. This study explored the potential effects of a home-based corticobulbar rehabilitation program on selected speech and swallowing-related clinical outcomes in Huntington's disease. METHODS: This prospective, non-randomized, observational controlled study included 40 adults with genetically confirmed Huntington's disease. Twenty-five patients entered a 6-month home-based corticobulbar rehabilitation program, while 15 received standard care without structured speech or swallowing rehabilitation. Six patients in the rehabilitation group discontinued the program because of rapid progression of corticobulbar symptoms; therefore, complete-case outcome analyses included 34 patients: 19 rehabilitation completers and 15 controls. Speech and swallowing outcomes were assessed at baseline and month 6 by blinded speech-language pathologists using an exploratory clinical rating scale. Secondary outcomes included body mass index and Unified Huntington's Disease Rating Scale Total Motor Score. RESULTS: No intervention-related adverse events were reported among completers. Breathy voice worsened in 6 control patients but in none of the rehabilitation completers (p = 0.004). Speech rate normalization was more frequent in the rehabilitation group than in controls (p = 0.003). Oral residue decreased more frequently in the rehabilitation group, whereas it increased more frequently in controls (p = 0.039). Body mass index was relatively preserved in the rehabilitation group overall (p = 0.025). UHDRS Total Motor Score changes favored rehabilitation but were considered exploratory because motor assessment was not blinded. CONCLUSION: Home-based corticobulbar rehabilitation may be feasible and associated with favorable exploratory changes in selected speech and swallowing parameters in Huntington's disease.
This is a Neuro-Images submission. Per the journal's Instructions for Authors, Neuro-Images articles do not require an abstract. A brief summary is provided below for indexing purposes: A 41-year-old man with post-trauma...This is a Neuro-Images submission. Per the journal's Instructions for Authors, Neuro-Images articles do not require an abstract. A brief summary is provided below for indexing purposes: A 41-year-old man with post-traumatic epilepsy developed status epilepticus after self-discontinuing antiseizure medications for two months. Brain MRI demonstrated simultaneous diffusion restriction in the right frontal cortex, body of the corpus callosum, and right hippocampus, with concordant right-hemispheric EEG epileptiform activity. All imaging abnormalities resolved completely on day 11, and the patient remained seizure-free at three-month follow-up on lamotrigine monotherapy.
BACKGROUND: Idiopathic intracranial hypertension (IIH) in non-obese patients represents a notable subtype of the condition, and its underlying causes require further investigation. This study aimed to analyse the clinica...BACKGROUND: Idiopathic intracranial hypertension (IIH) in non-obese patients represents a notable subtype of the condition, and its underlying causes require further investigation. This study aimed to analyse the clinical features and risk factors associated with non-obese IIH patients. METHODS: A retrospective analysis was conducted on 252 adult patients with clinically confirmed IIH between January 2015 and December 2023. Data on epidemiological characteristics, clinical manifestations, and imaging findings were reviewed. The cases were classified into two groups: obese group (body mass index, BMI≥28 kg/m²) and non-obese group(BMI<28 kg/m²). A comparative assessment of clinical data was performed between the groups, including demographic information, clinical findings, medical history, laboratory results, radiological indices, diagnosis, treatment, and prognosis. RESULTS: A total of 96 obese IIH and 82 non-obese IIH cases were included in this observation. Compared to the obese IIH group, non-obese cases were much older (37.94 ± 17.05vs.34.15 ± 8.74 year-old, P = 0.044), exhibited a lower frequency of abnormal radiological signs indicating intracranial hypertension (58.54%vs72.92%; P = 0.043), more severe visual impairment, and a reduced remission rate (60.98% vs. 81.25%%, P = 0.003). Additionally, 71 patients (86.59%) in the non-obese group had identifiable risk factors for IIH, including over-weight (63cases), obstructive sleep apnoea syndrome (OSAS) (36 cases), and weight gain (12cases). The mean duration of final follow-up was 15.02 ± 2.82 months. Univariate analysis showed that BMI, disease duration before treatment, visual field grading, and non-obese were significantly associated with poor best corrected visual acuity(BCVA) outcome (P<0.05). BCVA before treatment and imaging findings showed marginally significant associations (P<0.1). Multivariate logistic regression revealed that non-obese group (OR = 9.16, 95%CI: 1.09-77.18, P = 0.041) and longer disease duration (OR = 1.14, 95%CI: 1.05-1.24, P = 0.002) were independent risk factors for poor BCVA outcome. Poor BCVA before treatment showed a marginally significant trend toward poor prognosis (P = 0.089). CONCLUSIONS: Non-obese patients with IIH tend to exhibit more severe visual impairment and longer disease duration. Close monitoring and early intervention are recommended for non-obese patients with a long disease course.
PURPOSE: Epilepsy has been associated with alterations in cardiac repolarization, and the potential cardiac effects of antiseizure medications have raised increasing clinical interest. However, longitudinal pediatric dat...PURPOSE: Epilepsy has been associated with alterations in cardiac repolarization, and the potential cardiac effects of antiseizure medications have raised increasing clinical interest. However, longitudinal pediatric data evaluating cardiac parameters during levetiracetam monotherapy remain limited. We aimed to prospectively assess electrocardiographic and echocardiographic changes during one year of levetiracetam monotherapy in children with genetic generalized epilepsy. METHODS: This prospective study included 52 children with newly diagnosed genetic generalized epilepsy, with generalized tonic-clonic seizures alone, receiving levetiracetam monotherapy. Standard 12-lead electrocardiography and transthoracic echocardiography were performed at baseline and after one year. Electrocardiographic parameters included PR, QTc, Tpeak-Tend (Tp-e), and Tp-e-based ratios. Echocardiographic measurements were analyzed using age- and body size-adjusted Z-scores. RESULTS: Fifty-two patients (mean age 9.31 ± 4.49 years; 42.3% female) completed follow-up. No statistically significant differences were observed between baseline and one-year electrocardiographic parameters, including PR (p = 0.725), QTc (399.80 ± 15.84 vs. 396.44 ± 20.00 ms; p = 0.143), Tp-e (p = 0.070), Tp-e/QT (p = 0.753), and Tp-e/QTc (p = 0.370). Echocardiographic indices, including LVDd Z-score (p = 0.535), IVSd Z-score (p = 0.099), and ejection fraction (68.13 ± 3.87% vs. 68.25 ± 3.86%; p = 0.666), showed no longitudinal changes. CONCLUSIONS: In this prospective pediatric cohort of children with genetic generalized epilepsy, one year of levetiracetam monotherapy was not associated with adverse electrocardiographic or echocardiographic changes. These findings support a favorable cardiac safety profile of levetiracetam during one year of monotherapy in this pediatric population.
BACKGROUND: Stress dysregulation is a hallmark of multiple sclerosis (MS), linked to impaired HPA axis responsiveness and autonomic recovery. Binaural beats (BBs) are a safe, non-invasive method for stress modulation, bu...BACKGROUND: Stress dysregulation is a hallmark of multiple sclerosis (MS), linked to impaired HPA axis responsiveness and autonomic recovery. Binaural beats (BBs) are a safe, non-invasive method for stress modulation, but their efficacy in MS is unclear. METHODS: Sixty participants (30 people with MS (PwMS) and 30 matched healthy controls (HCs)) were randomized to BBs or sham groups in a double-blind design. Stress was induced using the Trier Social Stress Test (TSST), a standardized protocol involving public speaking and mental arithmetic tasks. Salivary cortisol (SC), heart rate variability (HRV), and electroencephalography (EEG) were measured at pre-stress, post-stress, and post-stimulation. The BBs condition involved 240 Hz tones in the right ear and 244 Hz tones in the left ear for 20 min, while the sham condition used identical 244 Hz tones in both ears. RESULTS: Salivary cortisol increased significantly after the TSST in HCs but not in PwMS, indicating blunted HPA reactivity in MS. Exposure to BBs led to significant reductions in SC in both PwMS and HCs, unlike the sham condition. HRV analysis showed reduced power in the high-frequency band (PHF) and increased power in the low-frequency (PLF) and very low-frequency (PVLF) bands after BBs. EEG findings further supported these results, showing stress-related increases in signal complexity after stress induction and a trend toward normalization following BBs. CONCLUSION: In this pilot trial, binaural beats were associated with reduced salivary cortisol and significant changes in HRV and EEG indices post-stress in both PwMS and healthy controls, indicating measurable physiological responses to the intervention.