PURPOSE: Atrial fibrillation (AF) drives cardioembolic stroke, yet paroxysmal AF (PAF) often escapes detection in embolic stroke of undetermined source (ESUS). We evaluated whether atrial natriuretic peptide (ANP) can id...PURPOSE: Atrial fibrillation (AF) drives cardioembolic stroke, yet paroxysmal AF (PAF) often escapes detection in embolic stroke of undetermined source (ESUS). We evaluated whether atrial natriuretic peptide (ANP) can identify latent PAF in ESUS, compared with brain natriuretic peptide (BNP). METHODS: Prospective single-center cohort of ESUS patients admitted within 24 h without admission AF. Admission ANP/BNP were assayed; PAF was screened by 14-day continuous ECG. Patients were grouped as PAF-detected or ESUS. Logistic regression (LAD, ANP, BNP) and ROC assessed diagnostic performance. RESULTS: Of 567 patients with cerebral infarction, 111 met the criteria for ESUS, and 64 were included after exclusions. PAF was detected in 30 patients, and 34 remained classified as ESUS. Baseline comparisons showed significant differences in age, ANP, BNP, and LAD. In multivariable logistic regression analysis, ANP was independently associated with PAF detection (p = 0.015), whereas BNP and LAD were not. ROC analysis showed an AUC of 0.901 (95% CI, 0.818-0.984) for ANP and 0.892 (95% CI, 0.811-0.973) for BNP, with no significant difference between them (p = 0.821). ANP demonstrated clinically useful performance with a cutoff value of 63.9 pg/mL (sensitivity 94.1%, specificity 83.3%). CONCLUSIONS: ANP was identified as an independent predictor of PAF detection in patients with ESUS, with strong ROC performance. Given its atrial origin and very short half-life, ANP may serve as an atrium-specific biomarker reflecting acute atrial load, potentially enabling earlier identification of latent PAF in the acute phase.
BACKGROUND: Cognitive impairment (CI) is a common and disabling feature of multiple sclerosis (MS), closely linked to brain neurodegeneration (e.g., brain atrophy). Optical coherence tomography (OCT) may offer a rapid an...BACKGROUND: Cognitive impairment (CI) is a common and disabling feature of multiple sclerosis (MS), closely linked to brain neurodegeneration (e.g., brain atrophy). Optical coherence tomography (OCT) may offer a rapid and cost-effective method to evaluate neurodegeneration and its relationship with CI in MS. OBJECTIVE: To explore the relationship between cognitive performance, retinal layer thickness, and brain volumetric measures in people with MS (pwMS), focusing on the relative contribution of individual retinal layers. METHODS: In this cross-sectional study, 100 pwMS underwent: neurological and neuropsychological evaluation; brain 3T-MRI scan to compute brain volumes; spectral-domain OCT to assess peripapillary retinal nerve fiber layer (pRNFL), macular ganglion cell layer (GCL), inner plexiform layer (IPL), and combined ganglion cell-inner plexiform layer (GCIPL) thickness. Correlation, t-tests, and regression analyses were performed to explore the abovementioned associations. RESULTS: Thinner retinal layers were associated with reduced brain volumes and lower cognitive performance. Among OCT-derived measures, GCL thickness showed the strongest association with both global cognitive Z-scores and domain-specific Z-scores for processing speed and executive functions. GCL also emerged as the only retinal predictor in regression models of cognitive outcomes. Classifying pwMS based on cognitive performance, cognitive impaired pwMS showed significantly lower GCL and pRNFL thickness compared to cognitive preserved pwMS. CONCLUSION: OCT-derived metrics of retinal damage linked to brain atrophy and CI in pwMS. Among retinal layers, GCL thickness is associated with both domain-specific and global cognitive performance and may potentially outperform GCIPL as an OCT-based marker of neurodegeneration, although findings should be interpreted with caution.
Ciacciarelli A, Nicolini E, Saia V
… +71 more, Pracucci G, Pensato U, De Michele M, Benedetti L, Casetta I, Fainardi E, Marcheselli S, Da Ros V, Maestrini I, Simonetti L, Zini A, Vinci SL, La Spina P, Laiso A, Nencini P, Del Sette B, Markushi TB, Bracco S, Tassi R, Saletti A, De Vito A, Boghi A, Naldi A, Burdi N, Boero G, Vallone S, Bigliardi G, Lazzarotti GA, Giannini N, Milazzo N, Persico A, Ruggiero M, Longoni M, Menozzi R, Pezzini A, Allegretti L, Tassinari T, Mambrin F, Cappellari M, Bergui M, Bosco G, Comai A, Franchini E, Lozupone E, Caggiula M, Zimatore S, Petruzzellis M, Gallesio I, Ferrandi D, Perri M, De Santis F, Puglielli E, Casalena A, Galvano G, Saracco E, Allegritti M, Caproni S, Alberti M, Invernizzi P, Carità G, Russo M, Besana M, Giossi A, Filizzolo M, Mannino M, Pelle G, Alessiani M, Konda D, Sallustio F, Mangiafico S, Toni D
INTRODUCTION: Infarct growth rate (IGR) is highly heterogeneous among ischemic stroke patients, reflecting a spectrum of progressor phenotypes with clinical implications. We aim to compare different imaging approaches to...INTRODUCTION: Infarct growth rate (IGR) is highly heterogeneous among ischemic stroke patients, reflecting a spectrum of progressor phenotypes with clinical implications. We aim to compare different imaging approaches to investigate stroke progressors phenotypes and their clinical implications in patients undergoing thrombectomy. METHODS: Data are from the prospective Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS). Patients with M1/M2 occlusion and known symptom onset were included. Progressor phenotypes were defined using (1) NCCT-based definitions (ASPECTS points decay per hour < 0.25 pts/h=slow progressor, 0.25-0.50 pts/h=intermediate, and > 0.50 pts/h=fast); and (2) CTP-based definitions (CTP-estimated core divided by time of onset < 5 mL/h=slow progressors, 5-10mL/h=intermediate, and > 10 mL/h=fast). The primary outcome was 90-day good functional outcome (modified Rankin Scale [mRS] = 0-2). Associations were assessed with logistic regression analyses adjusted for age, sex, NIHSS, TICI score, thrombolysis, and imaging-to-recanalization time. RESULTS: Of 26799 patients screened, 8322 (31.1%) were included (NCCT group: 8076; CTP group: 897 patients). NCCT-based progressor phenotype was associated with lower odds of good outcome (aOR 0.82 [95%CI = 0.72-0.92] per each progressor phenotype increase). ASPECTS decay per hour was associated with lower odds of good outcome (acOR 0.94 [95%CI = 0.89-0.99]). No significant association was observed for either CTP-based progressor phenotype or CTP-based IGR (mL/h). Similar findings were observed for secondary outcomes. CONCLUSIONS: In this large, real-world cohort of stroke patients, NCCT-based IGR was associated with functional outcomes, whereas CTP-based IGR was not. This highlights the need to refine and identify more accurate markers of infarct growth within perfusion imaging.
BACKGROUND: Social cognition impairments are common across neurological and psychiatric conditions and are associated with poor functional outcomes, yet their systematic assessment in routine clinical practice remains li...BACKGROUND: Social cognition impairments are common across neurological and psychiatric conditions and are associated with poor functional outcomes, yet their systematic assessment in routine clinical practice remains limited. This study aimed to introduce a novel screening battery for social cognition, the Brief Examination of Social Abilities (BE-Social), to provide Italian normative data and evidence on its clinical usability. METHODS: The BE-Social assesses various socio-cognitive abilities (i.e., social perception, Theory of Mind (ToM), empathy, and social norm understanding) through seven tasks administered in approximately 15 min. Normative data were collected from 466 healthy adults, and clinical usability was assessed in 76 patients with neurological and psychiatric disorders. Psychometric properties, including internal consistency, test-retest reliability, and construct validity, were examined. Normative adjustments were derived using the Equivalent Score method. Receiver operating characteristic (ROC) analyses were performed to evaluate discriminative accuracy. RESULTS: The BE-Social shows satisfactory internal consistency (McDonald's ω = 0.83) and moderate test-retest reliability (ICC = 0.66). Its score is associated with standardized measures of emotion recognition and ToM, but not with executive functions, attention, or memory, supporting its specificity. Age and education, but not sex, significantly predict performance. The BE-Social demonstrates good accuracy in distinguishing socio-cognitively impaired from non-impaired patients (AUC = 0.82). In patients, BE-Social scores are associated with emotion recognition, ToM, and social norm understanding, with these associations remaining significant after controlling for global cognitive functioning. CONCLUSIONS: The BE-Social is a brief, reliable, and clinically feasible screening tool for assessing social cognition, supporting its use in routine assessment across neurological and psychiatric populations.
BACKGROUND: Benign Essential Blepharospasm (BEB) is a focal dystonia that leads to an increased rate of eyelid closure due to involuntary activation of the orbicularis oculi muscles. In severe cases, daily activities can...BACKGROUND: Benign Essential Blepharospasm (BEB) is a focal dystonia that leads to an increased rate of eyelid closure due to involuntary activation of the orbicularis oculi muscles. In severe cases, daily activities can significantly be affected, with reduced quality of life. Injections of OnabotulinumtoxinA are often used as valid therapeutical option. However, this treatment may not be tolerated by all patients, considering its invasive nature and the need for access to specialized centers. Despite oral agents, such as benzodiazepines (particularly clonazepam), are often used as a first-line treatment, evidence regarding their efficacy remains fragmentary. OBJECTIVE: This scoping review aims to evaluate the current evidence for the efficacy of clonazepam for benign essential blepharospasm. METHODS: Articles in English about the use of clonazepam in the treatment of BEB were searched for in three major databases (PubMed, Scopus, Cochrane). RESULTS: The search yielded 259 results. After screening, 13 papers were sought for retrieval. After assessing their suitability, 2 articles were included in the review: one open-label trial and one case report. Despite some limitations, both showed the effectiveness of clonazepam in BEB. CONCLUSION: Although some evidence supports the use of clonazepam in the treatment of BEB, high-quality studies are still needed to clarify aspects such as response rates, optimal dose, and other disease management issues. This information may be useful for clinicians who are unable to refer their patients to specialized centers and must rely on their own experience and anecdotal evidence for patient management.
BACKGROUND: Gait impairments in Parkinson's disease (PD) worsen under cognitive load and often persist despite medication. Combining treadmill training with gamified virtual reality environments (GVRE) and transcranial d...BACKGROUND: Gait impairments in Parkinson's disease (PD) worsen under cognitive load and often persist despite medication. Combining treadmill training with gamified virtual reality environments (GVRE) and transcranial direct current stimulation (tDCS) may address both motor and cognitive contributors. This study evaluated the effects and experiences of a cognitive-motor gait training program integrating GVRE and tDCS. METHODS: In this mixed-methods RCT, 23 participants with mild-to-moderate PD were randomized to: (1) treadmill (n = 8), (2) treadmill+GVRE (n = 8), or (3) treadmill+GVRE+tDCS (n = 7). Participants completed 12 sessions over six weeks. Primary outcomes included spatiotemporal gait parameters and executive function under single- and dual-task conditions. Secondary outcomes included balance, motor severity, fear of falling and quality of life. Interviews explored perceived effects and motivational factors. RESULTS: The intervention was safe and well tolerated, with high attendance (92%). No statistically or clinically meaningful changes were observed in gait speed. Balance improved across groups (MiniBESTest + 1.48 points; p = 0.0003). A timepoint-specific improvement in cadence during motor dual-task walking was observed in the treadmill+GVRE+tDCS group compared with treadmill. Interviews revealed increased walking confidence and adoption of mobility strategies in complex walking situations. CONCLUSIONS: This preliminary mixed-methods RCT supports the feasibility and acceptability of combining treadmill training with GVRE and tDCS in people with mild-to-moderate PD. While the intervention did not yield clinically meaningful improvements in gait speed, exploratory outcomes offered insight into participant experiences. Reported gains in confidence, self-monitoring, and walking strategies provide useful context. Findings should be interpreted cautiously. Larger, adequately powered, sham-controlled trials are needed to determine efficacy.
Filippo Pacini was an Italian anatomist whose work significantly contributed to sensory physiology and microbiology. He first described specialized mechanoreceptors, later termed Pacinian corpuscles, recognizing their co...Filippo Pacini was an Italian anatomist whose work significantly contributed to sensory physiology and microbiology. He first described specialized mechanoreceptors, later termed Pacinian corpuscles, recognizing their connection to nerves and role in tactile perception. Although initially overlooked, his findings became fundamental to modern aesthesiology. Pacini also identified Vibrio cholerae as the cause of cholera, anticipating key developments in epidemiology. This article contextualizes his discoveries within 19thcentury scientific debates and highlights the originality and lasting impact of his work.
BACKGROUND: RNA polymerase I enzyme plays a pivotal role in the biosynthesis of 28S, 18S, and 5.8S ribosomal RNAs, which are crucial components of the protein synthesis machinery. The largest subunit of this enzyme, POLR...BACKGROUND: RNA polymerase I enzyme plays a pivotal role in the biosynthesis of 28S, 18S, and 5.8S ribosomal RNAs, which are crucial components of the protein synthesis machinery. The largest subunit of this enzyme, POLR1A, is encoded by the POLR1A gene. Homozygous variants in POLR1A cause an ultra-rare disorder known as hypomyelinating leukodystrophy type-27 (HLD27) with only four families reported worldwide to date. Here, we describe a fifth family harboring a novel homozygous variant in the POLR1A gene, presenting with atypical features and initially suspected of having complicated hereditary spastic paraplegia (c-HSP). In addition, we conducted a systematic review following the PRISMA 2020 guidelines to identify all reported cases with variants in the POLR1A gene. RESULTS: The proband's clinical features were characterized in detail. Whole-exome sequencing (WES) identified a novel homozygous variant in the proband, NM_015425.6:c.2357C > T POLR1A:p.(Thr786Ile). This variant co-segregated with the disease status within the family. The systematic review identified a total of 27 variants in the POLR1A gene, three of which were linked to HLD27. CONCLUSION: Our findings further expand the genetic and clinical spectrum of POLR1A-related disorders by identifying a novel variant and a distinct clinical manifestation characterized by a c-HSP-like phenotype, without apparent hypomyelination. Nevertheless, hypomyelination may develop as the disease progresses. Additionally, our findings raise the possibility that POLR1A variants may be related to HSP-like phenotypes. These findings underscore the critical importance of WES in the diagnosis of complicated disorders, particularly in patients with atypical or difficult-to-interpret clinical presentations.
BACKGROUND: Intracranial steno-occlusive lesions are characteristic of moyamoya disease (MMD), but increasing reports of extracranial vascular involvement suggest a possible systemic arteriopathy. METHODS: We conducted a...BACKGROUND: Intracranial steno-occlusive lesions are characteristic of moyamoya disease (MMD), but increasing reports of extracranial vascular involvement suggest a possible systemic arteriopathy. METHODS: We conducted a PRISMA-guided systematic review (1974-May 2025) to identify extracranial vascular involvement in classical MMD. Seventy-four studies were included. Because the search was limited to English-language publications, language bias may be present. A subset of 85 patients from 46 studies was used for exploratory multilabel machine-learning and deep-learning modeling based on clinical variables. RESULTS: Seventy-four studies comprising 143 patients (59.4% female) were included; mean age was 24.9 years. Bilateral intracranial disease predominated. Among patients with isolated extracranial involvement, coronary lesions were most frequent (33.1%), followed by renal (31.5%), pulmonary (14.6%), external carotid (10.8%), vertebral (4.6%), and celiac/mesenteric (3.1%) involvement; other rare single-vessel lesions accounted for 2.3%. Multisite involvement occurred in 9.1%. Of 25 genotyped patients, 23 (92.0%) carried RNF213 variants. Mortality was highest in the pulmonary subgroup (31.6%). Logistic regression and random forest showed the best overall balance of accuracy, F1 score, and ROC area, whereas one-dimensional convolutional neural networks were the strongest deep-learning models, although deep learning overall underperformed machine learning. Feature selection identified vascular risk factors and bilateral MMD as the strongest predictors. CONCLUSIONS: Extracranial vascular involvement in MMD appears age- and vascular bed-specific. These findings are consistent with, but do not establish, a systemic arteriopathy framework and support further prospective validation.
OBJECTIVES: To summarize the clinical features and management of severe sinoatrial node dysfunction in anti-N-methyl-D-aspartate (NMDA) receptor encephalitis, and to raise awareness of this rare but life-threatening comp...OBJECTIVES: To summarize the clinical features and management of severe sinoatrial node dysfunction in anti-N-methyl-D-aspartate (NMDA) receptor encephalitis, and to raise awareness of this rare but life-threatening complication. METHODS: We retrospectively analyzed three patients with anti-NMDA receptor encephalitis who developed sinus arrest and reviewed similar published cases. PubMed, Web of Science Core Collection, and Google Scholar were searched for reports published between January 2005 and January 2025 using the terms "anti-N-methyl-D-aspartate receptor encephalitis," "anti-NMDAR encephalitis," "cardiac arrest," "sinus node dysfunction," "sinus arrest," "sinus pause," and "asystole." Only cases with confirmed anti-NMDAR encephalitis, documented cardiac rhythm abnormalities, and sufficient clinical data were included. RESULTS: In our three patients, sinus arrest lasted 5.71, 9.23, and 6.20 s, occurring on hospital days 17, 6, and 15, respectively. One patient underwent teratoma resection and received a temporary pacemaker. All three patients regained normal sinus rhythm after immunotherapy and achieved favorable clinical outcomes. The literature review identified 25 additional cases. In a pooled cohort of 28 patients, most were young women; sinus arrest often coincided with seizures and generally manifested during the acute phase. Overall, 76.92% of patients attained complete or partial recovery following immunotherapy, with tumor resection and temporary pacing used as clinically indicated. CONCLUSION: Sinus arrest represents a reversible yet critical complication of anti-NMDA receptor encephalitis. Sinus node dysfunction resolved within weeks following immunotherapy and, when applicable, tumor resection. Early recognition and combined management are essential.
BACKGROUND AND OBJECTIVES: Chronic migraine (CM) is a highly disabling neurological disorder characterized by ≥ 15 headache days per month, of which at least 8 exhibit migrainous features. Despite the availability of pre...BACKGROUND AND OBJECTIVES: Chronic migraine (CM) is a highly disabling neurological disorder characterized by ≥ 15 headache days per month, of which at least 8 exhibit migrainous features. Despite the availability of preventive therapies, conventional treatments are often limited by suboptimal efficacy and poor tolerability. Monoclonal antibodies targeting calcitonin gene-related peptide (CGRP) or its receptor have emerged as mechanism-based preventive options. This systematic review aims to evaluate the efficacy, safety, and clinical relevance of CGRP-targeted monoclonal antibodies in the prevention of chronic migraine. MATERIALS AND METHODS: A comprehensive literature search of PubMed, Scopus, and Web of Science was conducted from database inception to July 2025. Randomized controlled trials and observational real-world studies evaluating CGRP-targeted monoclonal antibodies in adult patients with chronic migraine were included. The review followed PRISMA 2020 guidelines (Page et al. 2021), was registered in the PROSPERO database (CRD420261284751), and included 11 studies out of 1,688 identified records. RESULTS: Across included studies, CGRP-targeted monoclonal antibodies consistently demonstrated reductions in migraine frequency, improvements in ≥ 50% responder rates, and favorable safety profiles. Randomized controlled trials showed robust efficacy compared with placebo, while real-world studies confirmed effectiveness in more heterogeneous and treatment-resistant populations. However, variability in outcome definitions, particularly between monthly migraine days and monthly headache days, and differences in study design contributed to heterogeneity across findings. CONCLUSIONS: CGRP-targeted monoclonal antibodies represent an effective and well-tolerated preventive option for chronic migraine, with clinically meaningful benefits across both controlled and real-world settings. While current evidence is strong, further research is needed to evaluate long-term outcomes, optimize treatment strategies, and improve standardization of outcome measures. TRIAL REGISTRATION: This systematic review was registered in the PROSPERO database (CRD420261284751).
BACKGROUND: Neurophobia, defined as the fear of or aversion to neurology and neuroscience, is a challenge across health sciences and may contribute to workforce shortages. Previous reviews have exclusively focused on med...BACKGROUND: Neurophobia, defined as the fear of or aversion to neurology and neuroscience, is a challenge across health sciences and may contribute to workforce shortages. Previous reviews have exclusively focused on medical populations and have not systematically addressed measurement variability or the effects of educational interventions. OBJECTIVE: This systematic review builds on previous studies by analyzing neurophobia across the health sciences, focusing on prevalence rates, measurement instruments, associated factors, and the effects of educational interventions. METHODS: A systematic search was conducted following PRISMA guidelines. Eligible studies explicitly measured neurophobia and provided details of the measurement tool used. A structured narrative synthesis was performed following synthesis without meta-analysis (SWiM) principles and methodological quality was assessed using the Mixed Methods Appraisal Tool. RESULTS: 21 studies fulfilled the inclusion criteria. These were conducted across diverse countries, and predominantly involved medical students and physicians in training, with dental and veterinary students also represented. Measurement instruments showed substantial heterogeneity and were classified into four domains: affective response, cognitive appraisal, capability beliefs, and motivational consequences. Prevalence rates ranged from 19% to 66%. Higher interest and greater clinical exposure were associated with lower neurophobia, whereas gender and academic progression showed inconsistent associations. Evidence on educational interventions was limited and heterogeneous, although clinical or applied approaches suggested reductions in neurophobia. CONCLUSION: Overall, findings highlight variability in prevalence and measurement approaches. Associations with clinical exposure and reductions following clinically or applied educational interventions suggest that neurophobia might be less strongly associated with neurosciences' intrinsic complexity and more strongly associated with modifiable educational factors.
BACKGROUND AND OBJECTIVES: Cerebrovascular reactivity (CVR) reflects the ability of cerebral vessels to adapt to metabolic demands and may be impaired in multiple sclerosis (MS). Its clinical relevance in relapsing-remit...BACKGROUND AND OBJECTIVES: Cerebrovascular reactivity (CVR) reflects the ability of cerebral vessels to adapt to metabolic demands and may be impaired in multiple sclerosis (MS). Its clinical relevance in relapsing-remitting MS (RRMS), particularly in relation to disability and cognition, remains uncertain. We compared CVR, quantified by the Breath-Holding Index (BHI), between patients with RRMS and healthy controls, and examined its associations with neurological disability and cognitive performance. METHODS: In this cross-sectional observational study consecutive RRMS patients and age- and sex-matched healthy controls (2:1 ratio) were enrolled. CVR to hypercapnia was assessed by transcranial Doppler using BHI. Cognitive performance was evaluated with the Brief International Cognitive Assessment for MS battery, and neurological disability with the Expanded Disability Status Scale (EDSS). Multivariable linear regression was used for adjusted analyses. RESULTS: Ninety patients with RRMS and 45 healthy controls were included. BHI was lower in RRMS than in controls (0.88 ± 0.13 vs. 1.13 ± 0.13), with a mean difference of - 0.256 (95% CI - 0.302 to - 0.209). Lower BHI was associated with greater disability (EDSS: ρ=-0.420; 95% CI - 0.581 to - 0.228) and worse processing speed on the Symbol Digit Modalities Test (r = 0.50; 95% CI 0.33 to 0.64). In adjusted models, lower BHI remained independently associated with higher EDSS (B = - 3.51; 95% CI - 5.82 to - 1.20) and lower SDMT performance (B = 3.69; 95% CI 2.11 to 5.26). DISCUSSION: RRMS patients exhibit reduced CVR, independently associated with disability and processing speed. Impaired CVR may represent a clinically relevant marker of disability and cognitive dysfunction in RRMS.
Pathogenic variants in DEGS1, encoding a sphingolipid desaturase critical for ceramide biosynthesis, disrupt sphingolipid homeostasis and oligodendrocyte function, leading to abnormal myelination. We report an infant wit...Pathogenic variants in DEGS1, encoding a sphingolipid desaturase critical for ceramide biosynthesis, disrupt sphingolipid homeostasis and oligodendrocyte function, leading to abnormal myelination. We report an infant with genetically confirmed DEGS1-related leukodystrophy (homozygous c.337A > C, p.Asn113His) who presented with abnormal eye movements and early-onset developmental arrest. This was accompanied by axial hypotonia, severe feeding difficulties, and refractory epilepsy, including epileptic spasms with modified hypsarrhythmia. Brain MRI demonstrated diffuse abnormal myelination per age, thin corpus callosum, and cerebellar involvement. Notably, susceptibility-weighted imaging suggested cerebellar white matter calcifications, which were confirmed on brain CT, alongside punctate supratentorial calcifications, an atypical finding for DEGS1-related disease. This case expands the neuroimaging phenotype of DEGS1-related leukodystrophy and highlights intracranial calcifications, particularly within the cerebellum, as a potential diagnostic clue in the differential diagnosis of hypomyelinating disorders with conatal onset. Our findings also underscore the severe clinical course associated with DEGS1 deficiency, including profound developmental impairment, early-onset epilepsy, and persistent feeding difficulties.
BACKGROUND: The rapid global expansion of telemedicine has created regulatory heterogeneity affecting documentation requirements, with particular implications for neurological services where documentation demands differ...BACKGROUND: The rapid global expansion of telemedicine has created regulatory heterogeneity affecting documentation requirements, with particular implications for neurological services where documentation demands differ from general consultations. OBJECTIVES: To systematically examine documentation requirements for telemedicine across global jurisdictions, analyze convergence and divergence in regulatory approaches, evaluate specialty-specific requirements for neurology and telestroke, and explore liability frameworks for teleconsultations. METHODS: Scoping review following PRISMA-ScR framework. Comprehensive searches of academic databases and grey literature through August 2025, examining sources published, enacted, or updated after January 1, 2020. A composite regulatory intensity score was developed to enable systematic comparison across jurisdictions. RESULTS: Analysis of 147 regulatory sources across 52 jurisdictions revealed universal requirements for documentation elements while demonstrating substantial variation in consent documentation, data retention, electronic prescribing, and platform regulation. Regulatory intensity scores categorized jurisdictions across the full spectrum, with higher scores associated with more comprehensive documentation requirements. CONCLUSION: Telemedicine has transitioned from emergency contingency to regulated permanent care globally, with convergence on core principles but meaningful divergence in implementation specifics. Interoperability and mutual recognition rather than uniformity should guide regulatory harmonization efforts.
INTRODUCTION: Lidocaine (LA) is a widely used local anaesthetic and analgesic, and a potential therapeutic option for status epilepticus; however, due to its neurotoxicity, it also carries an associated risk of inducing...INTRODUCTION: Lidocaine (LA) is a widely used local anaesthetic and analgesic, and a potential therapeutic option for status epilepticus; however, due to its neurotoxicity, it also carries an associated risk of inducing life-threatening seizures and other neurological conditions. The semiology and the treatment of these provoked seizures remain poorly understood. OBJECTIVES: To better understand the seizure-related behaviour, clinical presentation and electroencephalographic patterns associated to lidocaine-induced seizures. METHODS: In this paper we describe three cases of inadvertent intrathecal LA administration for chronic lumbar pain focusing on clinical presentation, laboratory and neuroimaging findings. CONCLUSIONS: Acute symptomatic seizures may represent an adverse reaction to intrathecal lidocaine administration and may present with TNS and alteration of consciousness, leading to status epilepticus. A prompt initiation of antiseizure therapy should be considered to ensure the best outcome.