Neurological Sciences[JOURNAL]
Sun
200 papers
From evidence to action: Italian recommendations for the diagnosis and treatment of spatial neglect in stroke patients.
Mancuso M, Vecchi S, Basagni B … +16 more , Basile M, Bottini G, Caffarra P, Cruciani F, Galati G, Guariglia C, Magnotti L, Mitrova S, Purgato M, Reale N, Reverberi C, Saulle R, Sozzi M, Varalta V, Valentini I, Zoccolotti P
Neurol Sci · 2026 May · PMID 42203999 · Full text
BACKGROUND: Spatial neglect is a common and disabling cognitive consequence of stroke, associated with reduced functional independence, prolonged hospitalization, and increased healthcare and societal burden. OBJECTIVE:...
BACKGROUND: Spatial neglect is a common and disabling cognitive consequence of stroke, associated with reduced functional independence, prolonged hospitalization, and increased healthcare and societal burden. OBJECTIVE: The aim of this paper is to describe the development of a Clinical Practice Guideline (CPG) for the diagnosis and treatment of spatial neglect in stroke patients. METHODS: The guideline was developed by an interdisciplinary expert Panel following the GRADE approach, supported by systematic reviews of the literature. Four clinical questions addressed the effectiveness of prism adaptation therapy (PAT) and visuospatial training (VST), optimal timing of treatment initiation, and the accuracy of neglect-specific versus generic ADL assessment tools. RESULTS: Evidence from randomized controlled trials indicates that both PAT and VST yield small, short-term improvements in ADL performance and neglect severity; however, overall certainty of evidence remains very low due to methodological limitations. Based on this evidence, the Panel developed two conditional recommendations in favor of using PAT and VST for the rehabilitation of patients with peri-personal neglect. No studies examined optimal timing, leading the Panel to issue Good Practice Statements recommending initiation within 4-7 days post-stroke. Observational evidence supports the use of neglect-specific tools, particularly the Catherine Bergego Scale (KF-NAP version) and the semi-structured Zoccolotti scale, which outperform generic ADL measures. CONCLUSIONS: This CPG represents the first coordinated national effort in Italy to standardize the diagnosis and rehabilitation of post-stroke spatial neglect within the National Health Service. The CPG provides two conditional recommendations for treatments along with practical indications to support implementation and future research.
Rediscovery of pericytes within the neurovascular unit for cerebral ischemia/reperfusion injury.
Su S, Liang L, Gan L … +1 more , Cao Y
Neurol Sci · 2026 May · PMID 42203957 · Publisher ↗
BACKGROUND: Clinically, cardiac arrest, cardiopulmonary resuscitation, and ischemic stroke, as major contributors to cerebral ischemia/reperfusion injury (CIRI), leads to cognitive decline, brain dysfunction, and neurolo...
BACKGROUND: Clinically, cardiac arrest, cardiopulmonary resuscitation, and ischemic stroke, as major contributors to cerebral ischemia/reperfusion injury (CIRI), leads to cognitive decline, brain dysfunction, and neurological disability. Increasing evidence has highlighted the significant role of neurovascular unit (NVU) damage in the development of CIRI, leading to disruptions in the blood-brain barrier (BBB), alterations in cerebral blood flow regulation, and enhanced neuroinflammation. Over time, the concept of NVU has gained prominence, with research emphasizing the intricate interactions between cells and their microenvironment, which are essential for tissue repair and functional recovery. METHODS: Among the various cell types in the NVU, pericytes have attracted renewed attention. These cells are crucial for the formation and upkeep of the NVU, with their dysfunction linked to various central nervous system (CNS) diseases. RESULTS: Cerebral pericytes are vital for regulating BBB integrity, permeability, and blood flow, while also contributing to a wide range of functions, including contractility, immune responses, migration, angiogenesis, and stem cell potential. They are pivotal in the pathological progression of cerebral ischemia/reperfusion. However, the study of pericytes has been hindered due to the lack of specific biomarkers. CONCLUSIONS: A deeper understanding of pericytes is expected to enhance recognition of their role in the NVU. Studies from databases such as PubMed and Web of Science, up to 2025, have been reviewed to provide a comprehensive overview of pericyte interactions within the NVU and CIRI, offering valuable insights for future research and clinical applications.
Exploring an integrated group psychotherapy-exercise program for multiple sclerosis: a non-randomized pilot study.
Abelovska A, Malinova R, Sucha L … +4 more , Novotna K, Friedova L, Kubala Havrdova E, Motyl J
Neurol Sci · 2026 May · PMID 42203921 · Publisher ↗
OBJECTIVE: This pilot study evaluated "Your Health Belongs to You," a six-week group intervention combining psychotherapy and exercise to improve quality of life, emotional health, and symptom management in individuals w...
OBJECTIVE: This pilot study evaluated "Your Health Belongs to You," a six-week group intervention combining psychotherapy and exercise to improve quality of life, emotional health, and symptom management in individuals with Multiple Sclerosis (MS), emphasizing mental health as a key component of comprehensive MS care. METHODS: Using a single-blind, non-randomized, prospective pragmatic design, participants were assigned to either the intervention group (n = 55) or a small, unbalanced waiting-list control group (n = 13). The intervention consisted of six weekly 90-minute sessions addressing Symptoms, Emotions, and Fatigue. Assessments included the Hospital Anxiety and Depression Scale (HADS), Outcome Rating Scale (ORS), Group Session Rating Scale (GSRS), and Fatigue Severity Scale (FSS). Evaluations occurred at baseline and Week 6, with weekly measurements in the intervention group. Primary analysis focused on first visits only. RESULTS: Significant large-effect improvements were observed on the ORS (d=0.784), with smaller reductions in depression (HADS-D, d=0.397) and anxiety (HADS-A, d=0.361). No significant effect emerged for FSS. Compared to the control group, only a trend toward improvement was noted for the ORS. Participants reported high engagement, strong therapeutic alliance (GSRS mean = 36.8 ± 3.8), and low drop-out (9.1%). CONCLUSION: This pilot study suggests that integrating psychotherapy and exercise may improve well-being and functioning in individuals with MS. However, due to non-randomized allocation, a small and unbalanced control group, and a focus on first visits only, findings should be interpreted cautiously. The results reinforce the importance of addressing mental health in MS management. Future randomized trials with balanced groups and extended follow-up are warranted.
Exercise effects on cognitive function and molecular markers in post-stroke patients with cognitive impairment: a systematic review and meta-analysis.
Li Y, Zhang X, Yang Y … +5 more , Yun J, Yang X, Han D, Wen P, Ren C
Neurol Sci · 2026 May · PMID 42201410 · Publisher ↗
INTRODUCTION: Exercise may improve cognitive function in stroke survivors. However, no study has yet examined the most effective exercise modalities and associated changes in biomarkers. This study aims to investigate th...
INTRODUCTION: Exercise may improve cognitive function in stroke survivors. However, no study has yet examined the most effective exercise modalities and associated changes in biomarkers. This study aims to investigate the effects of different exercise types on cognitive function and biomarker trends, providing evidence-based guidance for early rehabilitation interventions. METHODS: Data from randomized controlled trials were collected from January 1, 2000, to March 6, 2025, using medical subject headings combined with free-text terms from PubMed, Cochrane Library, Embase, Wanfang, CNKI, CSTJ, and the China Medical Information Database. The Cochrane Risk of Bias Tool was used to assess the quality of the studies. Review Manager version 5.4.1 was employed to conduct all statistical syntheses. RESULTS: The forty-four original studies involving 4,450 patients with PSCI(Post-stroke cognitive impairment) were analyzed. Subgroup analysis by exercise intervention type revealed larger effect sizes when combining aerobic exercise with other task-based interventions(cognitive-motor dual-tasking and functional motor training) [SMD = 1.18, 95% CI (0.68, 1.68)]. Patients also showed improvements in motor function [MD = 13.98, 95% CI (10.06, 17.89)] and activities of daily living [MD = 16.78, 95% CI (12.97, 20.58)]. Concerning molecular biomarkers, serum levels of brain-derived neurotrophic factor (BDNF), glutathione (GSH), and neuron-specific enolase (NSE) increased significantly, whereas interleukin-6 (IL-6) levels decreased notably in PSCI patients following exercise therapy. CONCLUSION: Structured exercise effectively improves cognitive recovery, motor skills, and daily functioning in patients with PSCI. These clinical gains are accompanied by favorable peripheral biomarker modulations, characterized by significantly increased serum BDNF and GSH, as well as markedly decreased IL-6 levels.
Associations of blood heavy metals with cognitive function in older US adults: single and mutually adjusted effects.
Wang N, Guo L, Shi M … +4 more , Wang L, Zhou Y, Liu H, Xu X
Neurol Sci · 2026 May · PMID 42201406 · Publisher ↗
BACKGROUND: Heavy metal exposure has been associated with various diseases. The purpose of this study was to determine the single and mutually adjusted associations between blood heavy metals and cognitive function in ol...
BACKGROUND: Heavy metal exposure has been associated with various diseases. The purpose of this study was to determine the single and mutually adjusted associations between blood heavy metals and cognitive function in older adults. METHODS: This observational study utilizes data from the National Health and Nutrition Examination Survey (NHANES) between 2011 and 2014 and involved 1460 participants aged ≥ 60 years. The concentrations of blood lead (Pb), cadmium (Cd), mercury (Hg), selenium (Se), and manganese (Mn) were measured using inductively coupled plasma mass spectrometry (ICP-MS). Cognitive function was assessed using the Immediate Recall Test (IRT), delayed recall test (DRT), animal fluency test (AFT), and digit symbol substitution test (DSST). Mutually adjusted linear regression models, restricted cubic spline (RCS) analyses, and subgroup analyses were performed to evaluate individual and mutually adjusted associations between blood metal concentrations and cognitive function. RESULTS: Multiple linear regression analysis revealed an inverse association between Cd concentrations and cognitive scores (β=-2.698, 95% CI: -4.842, -0.554). Blood Se levels were positive associations with cognitive scores (β = 0.049, 95% CI: 0.022, 0.076) and all four cognitive domains. The RCS showed that the dose-response association between Cd and cognitive scores appeared to be linear (P-nonlinear = 0.566), while Se exhibited a left-skewed inverted U-shaped curve with cognitive scores (P-nonlinear = 0.013). CONCLUSIONS: A high concentration of Cd is strongly associated with cognitive decline. However, the protective effect of Se on cognitive function plateaus after reaching a certain concentration. These findings may have significance for the development of interventions aimed at alleviating cognitive impairment.
Raeder's paratrigeminal neuralgia secondary to internal carotid artery dissection mimicking trigeminal autonomic cephalalgia: a case report.
Amiraslanova S, Algan GA, Altiparmak T … +3 more , Oncu F, Vuralli D, Coskun O
Neurol Sci · 2026 May · PMID 42192027 · Publisher ↗
Raeder's paratrigeminal neuralgia is a rare clinical syndrome characterized by ipsilateral periorbital pain, partial Horner syndrome (ptosis and miosis without anhidrosis), and sensory disturbances in the ophthalmic divi...
Raeder's paratrigeminal neuralgia is a rare clinical syndrome characterized by ipsilateral periorbital pain, partial Horner syndrome (ptosis and miosis without anhidrosis), and sensory disturbances in the ophthalmic division (V1) of the trigeminal nerve. The syndrome results from involvement of sympathetic fibers traveling along the internal carotid artery (ICA), often in association with vascular or parasellar pathologies. Among its etiologies, ICA dissection is particularly important, as it may present with unilateral headache and cranial autonomic features that closely mimic trigeminal autonomic cephalalgias (TACs). This overlap may lead to misdiagnosis and delay in the identification of potentially serious vascular conditions. Recognition of distinguishing clinical features is therefore critical.
Navigating diagnostic overlap between seizures and movement disorders: A practical clinical approach.
Mohammed WB, Lira VST, Andrade DM … +1 more , Fasano A
Neurol Sci · 2026 May · PMID 42192013 · Publisher ↗
BACKGROUND: Although movement disorders (MDs) and seizures are considered separate neurological conditions, it can be difficult to distinguish between them in clinical settings. This is primarily due to the numerous moto...
BACKGROUND: Although movement disorders (MDs) and seizures are considered separate neurological conditions, it can be difficult to distinguish between them in clinical settings. This is primarily due to the numerous motor manifestations that overlap between seizures and movement disorders. Furthermore, the coexistence of both movement disorders and seizures within the same individual adds another layer of complexity to the diagnostic process. OBJECTIVES: The purpose of this review is to compile a comprehensive guide for distinguishing between seizures and movement disorders. METHODS: We draw attention to the common phenomenology of seizures and movement disorders, the areas of diagnostic ambiguity, and the crucial clinical elements that can direct a precise diagnosis. A structured narrative review was conducted based on a systematic PubMed/MEDLINE search (years 1980-2025), synthesising clinical, neurophysiological, and genetic literature relevant to the diagnostic overlap between seizures and movement disorders. RESULTS: Ten diagnostic pillars are offered as useful instruments to explore the intricate connection between seizures and movement disorders. CONCLUSION: Clinical reasoning must integrate multiple overlapping dimensions when distinguishing seizures from movement disorders. No single test or isolated feature is definitive; a holistic, interdisciplinary approach is critical in navigating this diagnostic interface. It is, however, important to emphasize that the strict distinction between movement disorders and seizures may not always be necessary or possible, given that both conditions are ultimately defined by different constructs: phenomenology and pathophysiology, respectively.
Diagnostic concordance between clinical preliminary diagnoses and electrophysiological findings in 3,683 emg referrals: a single-center retrospective study.
Ceyhan Z
Neurol Sci · 2026 May · PMID 42191972 · Publisher ↗
OBJECTIVE: To evaluate the concordance between clinical preliminary diagnoses and electrophysiological diagnoses obtained through electromyography (EMG) in patients referred with suspected entrapment neuropathies or poly...
OBJECTIVE: To evaluate the concordance between clinical preliminary diagnoses and electrophysiological diagnoses obtained through electromyography (EMG) in patients referred with suspected entrapment neuropathies or polyneuropathy. METHODS: In this retrospective descriptive study, 3,683 EMG reports from patients referred to the EMG unit of Samsun Physical Medicine and Rehabilitation Hospital between June 1, 2023, and February 10, 2025, were reviewed. All EMG procedures were performed and interpreted by the same physiatrist. Patient age, sex, clinical preliminary diagnoses, and final electrophysiological findings were recorded. Statistical significance was set at p < 0.05. RESULTS: Of the patients, 75.4% were female, with a mean age of 54.6 ± 14.1 years. The most common referral diagnoses were carpal tunnel syndrome (CTS) (62.4%), polyneuropathy (PNP) (34.1%), cubital tunnel syndrome (CuTS) (2.6%), meralgia paresthetica (MP) (0.7%), and tarsal tunnel syndrome (TTS) (0.2%). EMG. CONCLUSION: The concordance between clinical and EMG diagnoses was generally moderate. In CTS and PNP, specificity was notably low. Improving clinical assessment and referral accuracy may enhance diagnostic precision and reduce unnecessary testing and patient waiting times.
CAA or not? When cerebral microbleeds are not enough.
Zedde M, Pascarella R
Neurol Sci · 2026 May · PMID 42191964 · Publisher ↗
Lobar cerebral microbleeds (CMBs) are significant indicators of cerebral amyloid angiopathy (CAA) and are increasingly recognized in both clinical and population studies. Although CMBs are common incidental findings, the...
Lobar cerebral microbleeds (CMBs) are significant indicators of cerebral amyloid angiopathy (CAA) and are increasingly recognized in both clinical and population studies. Although CMBs are common incidental findings, their progression in CAA patients underscores their diagnostic relevance. Recent criteria highlight additional markers of small vessel disease (SVD), such as white matter hyperintensities (WMHs) and enlarged perivascular spaces (EPVSs), yet the current diagnostic framework does not fully address the implications of multiple SVD markers. This case report discusses a 55-year-old man with a history of acute lymphoblastic leukemia who presented with recurrent vertigo and was initially suspected of having CAA due to MRI findings of CMBs. However, the absence of cortical CMBs, WMHs, and EPVSs, coupled with his history of whole brain radiotherapy (WBRT), led to the conclusion that the observed CMBs were likely long-term effects of WBRT. Follow-up MRI demonstrated the emergence of new CMBs, reinforcing the need for careful consideration of differential diagnoses in patients with a history of radiation therapy.
Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.
Dehani M, Pourbakhtyaran E, Goudarzi N … +8 more , Kahaei MS, Miryounesi M, Ardeshirdavani A, Kabuli M, Damavandi E, Badv RS, Ghadami M, Rashidi-Nezhad A
Neurol Sci · 2026 May · PMID 42185686 · Publisher ↗
BACKGROUND: Biallelic pathogenic variants in the HACE1 gene cause the ultra-rare neurodevelopmental disorder, Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS). We identified a recurrent HAC...
BACKGROUND: Biallelic pathogenic variants in the HACE1 gene cause the ultra-rare neurodevelopmental disorder, Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS). We identified a recurrent HACE1 variant in two unrelated, consanguineous Iranian families and investigated its potential founder origin, alongside a review of all reported HACE1-related cases. METHODS: Whole exome sequencing (WES) was performed on the probands, and the variant was confirmed and segregated by Sanger sequencing. To assess a shared ancestral origin, we conducted runs of homozygosity (ROH) mapping, haplotype analysis, and mutation age estimation. RESULTS: Both probands carried the same homozygous nonsense variant HACE1 (NM_020771.4:c.1396 C > T; p.Gln466Ter), which co-segregated with the disease in both families. ROH and haplotype analyses revealed a shared ~ 6.6 Mb homozygous region encompassing HACE1, consistent with a possible founder effect. The variant was estimated to have arisen approximately 10.3 generations ago (~ 250 years). Furthermore, review of previously reported HACE1-related cases indicated that delayed psychomotor development, intellectual disability, hypotonia, spasticity, brain abnormalities, motor disorders, and speech impairment are the most prevalent features. CONCLUSION: Our findings support a putative founder effect, suggesting that the HACE1:c.1396C> T variant likely represents a founder variant within the Iranian population and, to our knowledge, mark the first report of SPPRS-causing variants from Iran. Beyond expanding the known genetic spectrum, this study highlights phenotypic heterogeneity, even among patients sharing the same genotype, and further characterizes the clinical variability and phenotypic spectrum of the disorder, thereby aiding more accurate diagnosis and genetic counseling for at-risk families.
How can social cognition be improved in neurological patients? a systematic review.
Giovagnoli AR, Patrikelis P, Accolla C … +4 more , Bianchi E, Preti M, Meneses RF, Giussani G
Neurol Sci · 2026 May · PMID 42185593 · Publisher ↗
BACKGROUND: The neural network underlying social cognition (SC) may be vulnerable to different types of lesions, but also amenable to recovery through interventions that stimulate brain plasticity. This review assessed c...
BACKGROUND: The neural network underlying social cognition (SC) may be vulnerable to different types of lesions, but also amenable to recovery through interventions that stimulate brain plasticity. This review assessed current non-pharmacological interventions (NPIs) and their effects on SC in neurological patients. METHODS: A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Randomized controlled studies, cohort studies, cross-sectional studies, case series, case reports, and literature reviews were included if they reported a precise description of the NPI in subjects older than 6 years, with brain or cerebellar lesion. RESULTS: Among 5.077 screened articles, 17 fulfilled the eligibility criteria. These articles provided 19 face-to-face, online or hybrid methods, involving 344 patients with multiple sclerosis, stroke, Parkinson disease, cerebellar ataxia, traumatic brain injuries or mixed acquired brain injuries. The methods were applied in observational and randomized study designs using group or individual settings, involving SC, general cognition, and relational aspects. These NPIs, classifiable into training, rehabilitation or combined interventions, improved SC in patients with various diagnosis and age. CONCLUSIONS: Results show that NPIs for SC in neurological patients is being addressed with insightful methods and study designs with improvement possibility in children and adults suffering different pathologies. This is not sufficient for thorough consensus but can trigger a range of broader high-quality and interdisciplinary clinical and research applications.
MNGIE with TYMP and POLG variants presenting as decade-long capsule retention: A case report.
Xia Y, She Y, Zhao R … +1 more , Zhang Y
Neurol Sci · 2026 May · PMID 42185572 · Publisher ↗
BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem mitochondrial disorder caused by thymidine phosphorylase (TYMP) deficiency, leading to toxic nucleoside accumulation and mit...
BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem mitochondrial disorder caused by thymidine phosphorylase (TYMP) deficiency, leading to toxic nucleoside accumulation and mitochondrial DNA instability. Pathogenic variants in POLG, encoding mitochondrial DNA polymerase γ, have been associated with overlapping mitochondrial syndromes. However, the coexistence of TYMP-related MNGIE and a concurrent heterozygous POLG variant has not been reported. CASE PRESENTATION: A 57-year-old woman presented with a 10-year history of recurrent dizziness, chronic diarrhea, and 20 kg weight loss. Laboratory investigations revealed chronic anemia, hypoproteinemia, and positivity for anti-centromere protein B and anti-mitochondrial M2 antibodies. Abdominal CT revealed multiple small-bowel diverticula, splenomegaly, and a retained capsule endoscope, whereas brain MRI showed diffuse white-matter hyperintensities. Electromyography showed sensorimotor neuropathy, and neurological examination revealed bilateral ptosis, ophthalmoplegia, and distal weakness. Whole-exome sequencing confirmed a homozygous TYMP variant (c.708C>A, p.Phe236Leu) and a heterozygous POLG variant (c.1781 T>C, p.Leu594Pro). Surgical removal of the retained capsule together with supportive therapy, including enteral nutrition and coenzyme Q10, resulted in clinical improvement. To our knowledge, this is the first reported case of MNGIE with a homozygous TYMP variant and a concurrent heterozygous POLG variant. CONCLUSION: While the homozygous TYMP variant provides the primary molecular basis for the diagnosis, the concurrent heterozygous POLG variant may represent a potential phenotypic modifier. This case expands the genotypic context of MNGIE and highlights the importance of early genetic testing and multidisciplinary management in patients with unexplained gastrointestinal and neurological manifestations.
Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.
Geng Q, Liu R, Xia J … +3 more , Lv Y, Chen Z, Lu Y
Neurol Sci · 2026 May · PMID 42185544 · Publisher ↗
BACKGROUND: Genetic prion diseases caused by octapeptide repeat insertions in the PRNP gene are rare. 5-octapeptide repeat insertion (5-OPRI) is an uncommon subtype that usually manifests as Creutzfeldt-Jakob disease (CJ...
BACKGROUND: Genetic prion diseases caused by octapeptide repeat insertions in the PRNP gene are rare. 5-octapeptide repeat insertion (5-OPRI) is an uncommon subtype that usually manifests as Creutzfeldt-Jakob disease (CJD) but shows marked variability in clinical phenotype and disease course. DISCUSSION: We report a patient with rapidly progressive gCJD caused by a 5-OPRI mutation. A systematic PubMed review identified genetically confirmed 5-OPRI cases with available clinical data. Demographic characteristics, clinical features, ancillary investigations, disease course, and PRNP codon 129 polymorphisms were analyzed. A total of 25 patients from 14 families were included. Age at onset ranged from 26 to 63 years (mean 44.8 ± 9.9 years). Disease duration ranged from 4 to 192 months. Dementia was present in all patients, and 84% showed frontotemporal dementia-like features. Cerebellar signs, extrapyramidal symptoms, and myoclonus occurred in 68%, 60%, and 44% of patients, respectively. Periodic sharp wave complexes were detected in 29.4% of EEGs, and cerebral atrophy was observed in all patients with neuroimaging. Most patients carried the MM genotype at PRNP codon 129 (83.3%). A short disease course was associated with more frequent akinetic mutism and myoclonus, while MM carriers had a younger age at onset than MV carriers. CONCLUSIONS: 5-OPRI-associated CJD exhibits marked heterogeneity in clinical and disease duration. The PRNP codon 129 polymorphism appears to influence disease onset and progression.
Anterior commissure involvement in Marchiafava-Bignami disease: MRI findings.
Chen Y, Lu Y, Chen J
Neurol Sci · 2026 May · PMID 42183947 · Publisher ↗
A 52-year-old man with a 30-year history of chronic alcohol abuse presented withseizures and progressive cognitive decline. Brain MRI demonstrated symmetricdiffusion-weighted hyperintensities involving the genu, body, an...
A 52-year-old man with a 30-year history of chronic alcohol abuse presented withseizures and progressive cognitive decline. Brain MRI demonstrated symmetricdiffusion-weighted hyperintensities involving the genu, body, and splenium of thecorpus callosum, extending to the anterior commissure, with corresponding restricteddiffusion on the apparent diffusion coefficient map. These findings were consistent withMarchiafava-Bignami disease, reflecting a toxic-metabolic demyelinating processassociated with chronic alcohol exposure.
Prognostic value of modified Erasmus Guillaiun Barre' syndrome outcome score (mEGOS) in an Italian cohort of patients: Challenges, insights and limitations.
Mazzoli M, Ariatti A, Benuzzi F … +6 more , Gozzi M, Bastia E, Agnoletto V, Marchioni A, Valzania F, Galassi G
Neurol Sci · 2026 May · PMID 42183893 · Publisher ↗
BACKGROUND: Clinical course and outcome of Guillain Barre' syndrome (GBS) are highly variable. among countries. The modified Erasmus GBS Outcome Score (mEGOS) is a prediction model proposed to predict risk of walking ina...
BACKGROUND: Clinical course and outcome of Guillain Barre' syndrome (GBS) are highly variable. among countries. The modified Erasmus GBS Outcome Score (mEGOS) is a prediction model proposed to predict risk of walking inability within six months of the disease. Our study aimed to validate the mEGOS in an Italian cohort of patients. METHODS: We used dataset from 230 adults GBS admitted to Neurology Unit of Modena over 22 years. We studied whether mEGOS applied at entry and at week 1 to patients unable to walk could predict the to restoration of independent ambulation at 4 and 24 weeks. Model performance was based on discrimination, using area under receiver operating characteristic curve and on calibration (observed versus predicted probability). Moreover, we assessed the predictive ability of individual variables included and not included in the mEGOS model. RESULTS: For validation, eligible patients were 62 at entry and 162 at week 1.The mEGOS discriminative ability at entry was great for prediction at 4 weeks (AUC 0.70), at 6 months (AUC 0.82) and excellent when applied at day 7 (AUC > 0.85).With regard to calibration, the model showed non optimal performance, because it underestimated risk of worse outcome, especially for patients with low predicted risk. CONCLUSIONS: The mEGOS scoring system can discriminate Italian GBS patients with low or high risk of poor outcome, when used in first week of disease. However, it should be considered moderately reliable predictor of independent ambulation at 4 weeks and at 6 months in our patients.
Unraveling sleep dysfunction in progressive supranuclear palsy: a pilot study on the role of periodic limb movements in sleep and insomnia.
Tucci R, Urso D, Tamburrino L … +3 more , Rollo E, Gnoni V, Logroscino G
Neurol Sci · 2026 May · PMID 42178448 · Publisher ↗
BACKGROUND: The association between progressive supranuclear palsy (PSP) and sleep disorders, particularly periodic limb movements in sleep (PLMS), remains inadequately studied, despite their impact on disease progressio...
BACKGROUND: The association between progressive supranuclear palsy (PSP) and sleep disorders, particularly periodic limb movements in sleep (PLMS), remains inadequately studied, despite their impact on disease progression and quality of life. OBJECTIVES: This study aims to assess the prevalence and severity of sleep disorders in PSP, with a focus on PLMS, in comparison to Parkinson's disease (PD). METHODS: 11 patients with PSP and 10 patients with PD completed validated sleep questionnaires and underwent home-based polysomnography. RESULTS: Patients with PSP reported significantly poorer sleep quality and greater insomnia severity than those with PD, as evidenced by differences in the Pittsburgh sleep quality index (p=0.039) and insomnia severity index (p=0.001). Polysomnographic findings revealed more pronounced disruption of sleep architecture in PSP, including a reduction in N3 sleep stage (p=0.020), and decreased REM sleep (p=0.048). PLMS were more frequent among patients with PSP compared to those with PD, although this difference was not statistically significant. CONCLUSIONS: Sleep disturbances are more severe in PSP than in PD, including patients with PSP exhibiting higher rates of insomnia and greater disruption of sleep architecture. PLMS in PSP are at least as common as in PD and are linked to heightened sleep complaints. These exploratory findings underscore the necessity for further research to elucidate the distinct pathophysiological mechanisms of sleep dysfunction in tauopathies and synucleinopathies, and to guide the developement of targeted therapeutic interventions.
Clinical, cognitive and neuropsychiatric correlates of personality in Wilson's disease.
De Lucia N, Lisbino R, Matarazzo M … +8 more , Giglio A, Coppola R, Di Dato F, Iorio R, Riccio G, Maldonato NM, Terracciano A, De Rosa A
Neurol Sci · 2026 May · PMID 42178427 · Full text
INTRODUCTION: Wilson's disease (WD) is an autosomal recessive disorder characterized by hepatic, neurologic, or psychiatric symptoms. Compared to other recognized clinical symptoms, the personality profile of WD patients...
INTRODUCTION: Wilson's disease (WD) is an autosomal recessive disorder characterized by hepatic, neurologic, or psychiatric symptoms. Compared to other recognized clinical symptoms, the personality profile of WD patients remains under-investigated. This study compared personality traits in a sample of adults with WD and healthy controls (HC). Moreover, we assessed the cognitive and affective correlates of personality within the WD group. METHODS: We enrolled 20 patients affected with genetically confirmed WD, with prevalent extrapyramidal symptoms, and 20 age and education-matched HC. Participants completed the revised Eysenck Personality Questionnaire, neuropsychological tests, and psychological questionnaires. RESULTS: WD patients scored significantly higher on neuroticism (Cohen's d = 1.28; Confidence Interval: 0.61-1.95) and psychoticism (Cohen's d = 0.72; Confidence Interval: 0.08-1.36) compared to HC, but no differences were observed for extraversion. Among WD patients, neuroticism correlated with global disability, trail making test, depression, and mental health status; psychoticism correlated with memory and executive functions (all r > ± 0.5). CONCLUSION: We observed that WD patients are characterized by high neuroticism and psychoticism, and this personality profile is related to other clinical, cognitive, and neuropsychiatric manifestations. Identification of personality traits can enhance early detection, improve monitoring, and guide targeted management strategies for individuals with WD.
Ofatumumab therapy modulates the meningeal lymphatic draining function in patients with multiple sclerosis: a pilot study.
Yang S, Fu XW, Liu ZX … +8 more , Zhu L, Liu J, Liu Z, Zhang TX, Wang SQ, Feng B, Wang JP, Zhang C
Neurol Sci · 2026 May · PMID 42174293 · Publisher ↗
BACKGROUND AND OBJECTIVES: Meningeal lymphatic vessels (mLVs) are critical for central nervous system waste clearance and immunomodulation， implicated in multiple sclerosis pathogenesis. Although ofatumumab is effective...
BACKGROUND AND OBJECTIVES: Meningeal lymphatic vessels (mLVs) are critical for central nervous system waste clearance and immunomodulation， implicated in multiple sclerosis pathogenesis. Although ofatumumab is effective in treating relapsing-remitting MS (RRMS), its effects on mLVs function remain unclear. This study aimed to investigate its impact on mLVs drainage in RRMS patients. METHODS: Fifteen RRMS patients were enrolled in this prospective cohort study with ofatumumab, and nine healthy controls were recruited. Drainage function of mLVs was quantified via dynamic contrast-enhanced magnetic resonance imaging at baseline, month 6 and month 12. Correlations between changes in drainage function and immune cell subsets were analyzed. RESULTS: Following ofatumumab treatment, significant reductions were observed in mean time-to-peak (0.75 to 0.52, p = 0.007) and area under the curve (AUC, 30.70 to 12.67, p = 0.001) within mLVs. Baseline mLVs parameters did not differ between RRMS patients and healthy controls. Change of AUC (ΔAUC) was positively associated with regulatory T cell frequency (ΔTreg, r = 0.539, p = 0.038) and negatively associated with central memory CD4 T cells (ΔTCM, r = -0.535, p = 0.040). Symbol Digit Modalities Test scores were negatively associated with TTP at baseline (r = -0.535, p = 0.040), whereas no correlations were observed between changes in mLVs parameters and clinical outcomes (all p > 0.05). CONCLUSION: Ofatumumab improved mLVs drainage in RRMS and was associated with a shift toward regulatory T cell phenotype. These findings suggest that modulation of meningeal lymphatics may contribute to the immunomodulatory effects of anti-CD20 therapy.
Beyond the usual suspects: fungal hypertrophic pachymeningitis with cranial neuropathies.
Saravanan S, Gomathy SB, Saibaba J … +4 more , Nanjegowda NB, Senthilvelan S, Sugumaran R, Narayan SK
Neurol Sci · 2026 May · PMID 42174154 · Publisher ↗
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Prediction and diagnosis of post-stroke epilepsy using artificial intelligence approaches: a systematic review and meta-analysis.
Qu T, Wu Y, Lei J … +3 more , Dong J, Wang Q, Wang Y
Neurol Sci · 2026 May · PMID 42171788 · Publisher ↗
INTRODUCTION: Post-stroke epilepsy (PSE) is a common complication following a stroke and is a major cause of epilepsy in the elderly. Artificial intelligence (AI) is currently developing rapidly in the medical field and...
INTRODUCTION: Post-stroke epilepsy (PSE) is a common complication following a stroke and is a major cause of epilepsy in the elderly. Artificial intelligence (AI) is currently developing rapidly in the medical field and has a promising outlook in disease diagnosis, treatment, and prognosis. METHODS: We screened five studies that fully met the requirements from the PubMed, Web of Science, and EMBASE databases using relevant search terms such as PSE and AI, and analyzed the role of AI in predicting and diagnosing PSE in these studies. RESULTS: The results showed that the sensitivity of AI in predicting and diagnosing PSE was 88% (95% CI 0.78-0.94), and the specificity was 83% (95% CI 0.79-0.86). The area under the summary receiver operating characteristic (SROC) curve was 0.90 (95% CI 0.87-0.92). CONCLUSION: These results indicate that using AI to predict and assist in diagnosing PSE demonstrates high specificity and sensitivity, and has certain prospects in the future auxiliary diagnosis of PSE.
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