Pub Date : 2025-06-27DOI: 10.1016/j.dscb.2025.100253
Matej Rakusa , Lea Leonardis , Blaž Koritnik , Andrej Janež , Mojca Jensterle
We report the case of a female patient with spinal muscular atrophy type 3c, low bone mineral density and multiple fragility fractures, successfully treated with teriparatide. She sustained a vertebral fracture at age 35 years while treatment naïve, and additionally, one vertebral fracture as well as an intertrochanteric right hip fracture during the 5-year treatment with oral bisphosphonates. A sequential 2-year treatment with teriparatide followed by a one-year treatment with oral bisphosphonate risedronate resulted in an overall 11-year fracture-free period and stable bone mineral density. Teriparatide is an osteoanabolic medication that effectively reduces vertebral and nonvertebral fractures in postmenopausal, male and glucocorticoid-induced osteoporosis, particularly in individuals at very high risk of fracture. In the context of neuromuscular disease, teriparatide proved effective in the treatment of osteoporosis in Duchenne muscular dystrophy. In contrast, the data for patients with spinal muscular atrophy are lacking. Further studies are needed to assess its role in this population.
{"title":"Teriparatide in sequental treatment of osteoporosis in a patient with spinal muscular atrophy: a case report and literature review","authors":"Matej Rakusa , Lea Leonardis , Blaž Koritnik , Andrej Janež , Mojca Jensterle","doi":"10.1016/j.dscb.2025.100253","DOIUrl":"10.1016/j.dscb.2025.100253","url":null,"abstract":"<div><div>We report the case of a female patient with spinal muscular atrophy type 3c, low bone mineral density and multiple fragility fractures, successfully treated with teriparatide. She sustained a vertebral fracture at age 35 years while treatment naïve, and additionally, one vertebral fracture as well as an intertrochanteric right hip fracture during the 5-year treatment with oral bisphosphonates. A sequential 2-year treatment with teriparatide followed by a one-year treatment with oral bisphosphonate risedronate resulted in an overall 11-year fracture-free period and stable bone mineral density. Teriparatide is an osteoanabolic medication that effectively reduces vertebral and nonvertebral fractures in postmenopausal, male and glucocorticoid-induced osteoporosis, particularly in individuals at very high risk of fracture. In the context of neuromuscular disease, teriparatide proved effective in the treatment of osteoporosis in Duchenne muscular dystrophy. In contrast, the data for patients with spinal muscular atrophy are lacking. Further studies are needed to assess its role in this population.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100253"},"PeriodicalIF":0.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144535941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-26DOI: 10.1016/j.dscb.2025.100251
Shuang-Qi Gao , Jian-Wei Huang , Ying Guo
Background
Nocardia infections typically occur in the lungs and skin, with pulmonary involvement being the most common. However, dissemination to other body parts, including the central nervous system (CNS), is not uncommon. Nocardia is generally considered an opportunistic pathogen, primarily affecting immunocompromised individuals. Nevertheless, it can also infect immunocompetent individuals. In this study, we present a case of an immunocompetent patient who developed hydrocephalus due to intracranial Nocardia infection.
Case presentation
A 66-year-old male with no signs of immunodeficiency and a healthy immune system underwent surgical resection of a brain mass after presenting with gait instability, headache, and vomiting. Postoperatively, next-generation sequencing (NGS) was performed to confirm Nocardia infection. The patient was treated with a standard antibiotic regimen. Following surgery, the patient's hydrocephalus significantly improved, and no signs of infection or complications were observed during a one-month follow-up period.
Conclusions
Intracranial infections induced by Nocardia are rare but can lead to complications such as hydrocephalus if not managed appropriately. Long-term ventricular drainage and appropriate antibiotic therapy are effective treatment strategies for such patients. This case highlights the importance of timely diagnosis and comprehensive management in immunocompetent individuals with Nocardia-related CNS infections.
{"title":"Diagnosis and treatment of hydrocephalus caused by intracranial Nocardia infection: a case report and review of the literature","authors":"Shuang-Qi Gao , Jian-Wei Huang , Ying Guo","doi":"10.1016/j.dscb.2025.100251","DOIUrl":"10.1016/j.dscb.2025.100251","url":null,"abstract":"<div><h3>Background</h3><div><em>Nocardia</em> infections typically occur in the lungs and skin, with pulmonary involvement being the most common. However, dissemination to other body parts, including the central nervous system (CNS), is not uncommon. <em>Nocardia</em> is generally considered an opportunistic pathogen, primarily affecting immunocompromised individuals. Nevertheless, it can also infect immunocompetent individuals. In this study, we present a case of an immunocompetent patient who developed hydrocephalus due to intracranial <em>Nocardia</em> infection.</div></div><div><h3>Case presentation</h3><div>A 66-year-old male with no signs of immunodeficiency and a healthy immune system underwent surgical resection of a brain mass after presenting with gait instability, headache, and vomiting. Postoperatively, next-generation sequencing (NGS) was performed to confirm <em>Nocardia</em> infection. The patient was treated with a standard antibiotic regimen. Following surgery, the patient's hydrocephalus significantly improved, and no signs of infection or complications were observed during a one-month follow-up period.</div></div><div><h3>Conclusions</h3><div>Intracranial infections induced by <em>Nocardia</em> are rare but can lead to complications such as hydrocephalus if not managed appropriately. Long-term ventricular drainage and appropriate antibiotic therapy are effective treatment strategies for such patients. This case highlights the importance of timely diagnosis and comprehensive management in immunocompetent individuals with <em>Nocardia</em>-related CNS infections.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100251"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144501815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-24DOI: 10.1016/j.dscb.2025.100250
Mostafa Meshref, Fathy Mahmoud Mansour, Mohamed Hamed Rashad, Mahmoud M. Abdelsayed, Hassan Gad, Ahmad Farag Ibrahim El-Adawy
Objectives
Multiple sclerosis (MS) is a neurodegenerative, autoimmune inflammatory illness with diverse symptoms, including movement disorders (MDs). Thus, we aimed to identify the prevalence and radiological findings of movement disorders (MDs) experienced by patients with multiple sclerosis (PwMS).
Materials and methods
We conducted a cross-sectional study on MS patients who reported MDs between September 2022 and March 2024. We reported the MRI findings of movement disorders that occur in PwMS.
Results
Among 330 screened MS patients, 76 (58 % female, mean age 27.76 years) had MDs. All patients showed periventricular lesions, with significant percentages displaying juxtacortical (92 %), cortical (32 %), frontal subcortical (44 %), and lentiform nucleus lesions (43 %). Parietal, temporal, and occipital subcortical lesions were less common. Bilateral lesions were prevalent across most subcortical areas, notably in the frontal subcortical region (69.7 %). Less frequently affected areas included the caudate nucleus, internal capsule, thalamus, and subthalamus, with varying laterality. Infratentorial lesions, mainly in the pons (66.2 %), also involved the midbrain and cerebellum, with a balanced left-right distribution. Peri-ependymal brainstem lesions occurred in 38.1 %, and cervical spine abnormalities in 80.3 %.
Conclusions
This study emphasizes the frequency and radiological features of MDs in PwMS. The MRI results indicate a widespread and varied distribution of lesions, which aligns with the range of clinical symptoms observed in MS patients.
{"title":"Prevalence and radiological characteristics of movement disorders among patients with multiple sclerosis: An observational study","authors":"Mostafa Meshref, Fathy Mahmoud Mansour, Mohamed Hamed Rashad, Mahmoud M. Abdelsayed, Hassan Gad, Ahmad Farag Ibrahim El-Adawy","doi":"10.1016/j.dscb.2025.100250","DOIUrl":"10.1016/j.dscb.2025.100250","url":null,"abstract":"<div><h3>Objectives</h3><div>Multiple sclerosis (MS) is a neurodegenerative, autoimmune inflammatory illness with diverse symptoms, including movement disorders (MDs). Thus, we aimed to identify the prevalence and radiological findings of movement disorders (MDs) experienced by patients with multiple sclerosis (PwMS).</div></div><div><h3>Materials and methods</h3><div>We conducted a cross-sectional study on MS patients who reported MDs between September 2022 and March 2024. We reported the MRI findings of movement disorders that occur in PwMS.</div></div><div><h3>Results</h3><div>Among 330 screened MS patients, 76 (58 % female, mean age 27.76 years) had MDs. All patients showed periventricular lesions, with significant percentages displaying juxtacortical (92 %), cortical (32 %), frontal subcortical (44 %), and lentiform nucleus lesions (43 %). Parietal, temporal, and occipital subcortical lesions were less common. Bilateral lesions were prevalent across most subcortical areas, notably in the frontal subcortical region (69.7 %). Less frequently affected areas included the caudate nucleus, internal capsule, thalamus, and subthalamus, with varying laterality. Infratentorial lesions, mainly in the pons (66.2 %), also involved the midbrain and cerebellum, with a balanced left-right distribution. Peri-ependymal brainstem lesions occurred in 38.1 %, and cervical spine abnormalities in 80.3 %.</div></div><div><h3>Conclusions</h3><div>This study emphasizes the frequency and radiological features of MDs in PwMS. The MRI results indicate a widespread and varied distribution of lesions, which aligns with the range of clinical symptoms observed in MS patients.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100250"},"PeriodicalIF":0.0,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144517437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-14DOI: 10.1016/j.dscb.2025.100249
Moneera O. Aldraihem , Ghadah Shareefi , Walaa AlYami , Othman O. Aldraihem , Rana AlDosari , Ahmad AlMutlaq
Glucagon-like peptide-1 receptor agonists (GLP-1RAs) have emerged as effective treatments for obesity and type 2 diabetes. GLP-1 receptors are also expressed on astrocytes and in regions commonly affected by neuromyelitis optica spectrum disorder (NMOSD), suggesting that GLP-1 signaling could influence astrocyte function and potentially be associated with NMOSD attacks. Here, we report a case of a 29-year-old woman who developed seronegative NMOSD coinciding with the use of the GLP-1RA semaglutide (Ozempic) for weight loss. The patient initially presented with gastroenteritis-like symptoms, followed by severe flaccid, areflexic quadriparesis. An extensive diagnostic workup, including lumbar puncture and Magnetic Resonance Imaging (MRI) scans, confirmed the NMOSD diagnosis.
We propose two potential mechanisms for this association. The first hypothesis suggests that semaglutide-induced alterations in the gut microbiome may trigger the activation of proinflammatory cytokines and dysregulate immune homeostasis, contributing to the development of NMOSD. The second hypothesis posits a direct effect of GLP-1RAs on GLP-1 receptors expressed on astrocytes and in central nervous system regions commonly affected by NMOSD. Although this case does not establish a definitive causal relationship, it underscores the need for further research to elucidate the underlying mechanisms and ensure the safe use of GLP-1RAs in patients at risk for autoimmune conditions.
{"title":"Neuromyelitis optica spectrum disorder-like presentation following semaglutide therapy: A case report","authors":"Moneera O. Aldraihem , Ghadah Shareefi , Walaa AlYami , Othman O. Aldraihem , Rana AlDosari , Ahmad AlMutlaq","doi":"10.1016/j.dscb.2025.100249","DOIUrl":"10.1016/j.dscb.2025.100249","url":null,"abstract":"<div><div>Glucagon-like peptide-1 receptor agonists (GLP-1RAs) have emerged as effective treatments for obesity and type 2 diabetes. GLP-1 receptors are also expressed on astrocytes and in regions commonly affected by neuromyelitis optica spectrum disorder (NMOSD), suggesting that GLP-1 signaling could influence astrocyte function and potentially be associated with NMOSD attacks. Here, we report a case of a 29-year-old woman who developed seronegative NMOSD coinciding with the use of the GLP-1RA semaglutide (Ozempic) for weight loss. The patient initially presented with gastroenteritis-like symptoms, followed by severe flaccid, areflexic quadriparesis. An extensive diagnostic workup, including lumbar puncture and Magnetic Resonance Imaging (MRI) scans, confirmed the NMOSD diagnosis.</div><div>We propose two potential mechanisms for this association. The first hypothesis suggests that semaglutide-induced alterations in the gut microbiome may trigger the activation of proinflammatory cytokines and dysregulate immune homeostasis, contributing to the development of NMOSD. The second hypothesis posits a direct effect of GLP-1RAs on GLP-1 receptors expressed on astrocytes and in central nervous system regions commonly affected by NMOSD. Although this case does not establish a definitive causal relationship, it underscores the need for further research to elucidate the underlying mechanisms and ensure the safe use of GLP-1RAs in patients at risk for autoimmune conditions.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100249"},"PeriodicalIF":0.0,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-06DOI: 10.1016/j.dscb.2025.100248
Luana dos Santos de Oliveira , Claudia Eunice Neves de Oliveira , Layla Cupertino Salloum e Silva , Emanuele Los Angeles , Nathalia Mendes Pellegrino , Vanessa Milanese , João Ricardo Sato , Fabio Augusto Barbieri , Daniel Boari Coelho
Background
Step initiation is a critical movement that combines motor and cognitive elements, notably in individuals with Parkinson's Disease (PD) who experience marked difficulties due to disrupted anticipatory postural adjustments (APA). This study investigated the involvement of the Supplementary Motor Area (SMA) and the Dorsolateral Prefrontal Cortex (DLPFC) associated with step initiation that requires high cognitive processing (e.g., cognitive-motor conflicts) in individuals with PD compared to healthy controls.
Methods
We used functional near-infrared spectroscopy (fNIRS) to assess the cortical hemodynamic responses of 33 individuals with PD and 17 healthy controls as they performed step initiation in both congruent (all cues aligned) and incongruent (conflicting cues) conditions. The study sought to analyze variations in the hemodynamic responses related to these conditions, hypothesizing that PD individuals would exhibit reduced cortical activation in the SMA and DLPFC due to motor cortex inefficiencies affecting APA.
Results
Individuals with PD exhibited significant deficits in biomechanical performance (e.g., increased APA delays and errors) and altered hemodynamic responses in the SMA and DLPFC compared to controls, particularly under incongruent conditions. These observations indicate diminished cortical efficiency in PD during motor execution coupled with cognitive demands.
Conclusion
The findings suggest that PD involves impairments in cortical areas linked to movement planning and cognitive control. These findings suggest potential avenues for targeted rehabilitation strategies that enhance cognitive-motor integration, possibly improving mobility and reducing fall risk in PD.
{"title":"Parkinson’s disease and anticipatory postural adjustments: Decreased cortical activity during step initiation","authors":"Luana dos Santos de Oliveira , Claudia Eunice Neves de Oliveira , Layla Cupertino Salloum e Silva , Emanuele Los Angeles , Nathalia Mendes Pellegrino , Vanessa Milanese , João Ricardo Sato , Fabio Augusto Barbieri , Daniel Boari Coelho","doi":"10.1016/j.dscb.2025.100248","DOIUrl":"10.1016/j.dscb.2025.100248","url":null,"abstract":"<div><h3>Background</h3><div>Step initiation is a critical movement that combines motor and cognitive elements, notably in individuals with Parkinson's Disease (PD) who experience marked difficulties due to disrupted anticipatory postural adjustments (APA). This study investigated the involvement of the Supplementary Motor Area (SMA) and the Dorsolateral Prefrontal Cortex (DLPFC) associated with step initiation that requires high cognitive processing (e.g., cognitive-motor conflicts) in individuals with PD compared to healthy controls.</div></div><div><h3>Methods</h3><div>We used functional near-infrared spectroscopy (fNIRS) to assess the cortical hemodynamic responses of 33 individuals with PD and 17 healthy controls as they performed step initiation in both congruent (all cues aligned) and incongruent (conflicting cues) conditions. The study sought to analyze variations in the hemodynamic responses related to these conditions, hypothesizing that PD individuals would exhibit reduced cortical activation in the SMA and DLPFC due to motor cortex inefficiencies affecting APA.</div></div><div><h3>Results</h3><div>Individuals with PD exhibited significant deficits in biomechanical performance (e.g., increased APA delays and errors) and altered hemodynamic responses in the SMA and DLPFC compared to controls, particularly under incongruent conditions. These observations indicate diminished cortical efficiency in PD during motor execution coupled with cognitive demands.</div></div><div><h3>Conclusion</h3><div>The findings suggest that PD involves impairments in cortical areas linked to movement planning and cognitive control. These findings suggest potential avenues for targeted rehabilitation strategies that enhance cognitive-motor integration, possibly improving mobility and reducing fall risk in PD.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100248"},"PeriodicalIF":0.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144240925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-04DOI: 10.1016/j.dscb.2025.100246
Umar F. Abdulwahab , Zayyanu U. Usman , Aliyu Buhari , Iyabo M. Adebisi
Physical function declines with age, often accompanied by oxidative stress and neurodegenerative diseases. Time-restricted feeding (TRF) is a promising dietary intervention to slow aging and promote health. This study examined the effects of TRF on brain oxidative stress in aged Drosophila melanogaster, a well-established model organism for aging and neurodegeneration. Our experimental design included ad libitum feeding (control) and fasting protocols (8 and 12 h) of aged flies. The brain locomotor activity, oxidative stress, and antioxidant gene expression were then determined in the control and experimental groups. Our findings showed that TRF improves locomotor activity in aging organisms, suggesting a link between feeding patterns and behavioral outcomes. TRF also reduced oxidative stress by lowering malondialdehyde (MDA), a marker of lipid peroxidation, and increasing superoxide dismutase (SOD) and catalase activity. Additionally, TRF upregulated antioxidant genes such as SOD and CAT, demonstrating its ability to modulate cellular antioxidant defense mechanisms. TRF is a promising non-pharmacological approach to brain health and age-related oxidative stress in Drosophila melanogaster. These findings suggest that TRF may be an effective dietary intervention to improve aging trajectories and reduce age-related neurodegenerative diseases.
Significance statement
The findings in this study advance the sub-discipline of neuroprotection by demonstrating that time-restricted feeding significantly reduces brain oxidative stress and enhances antioxidant defenses, suggesting its potential as a non-pharmacological intervention for mitigating age-related cognitive decline and neurodegenerative diseases.
{"title":"Effects of time-restricted feeding on brain oxidative stress, locomotor activity, and antioxidant defenses in aged Drosophila melanogaster","authors":"Umar F. Abdulwahab , Zayyanu U. Usman , Aliyu Buhari , Iyabo M. Adebisi","doi":"10.1016/j.dscb.2025.100246","DOIUrl":"10.1016/j.dscb.2025.100246","url":null,"abstract":"<div><div>Physical function declines with age, often accompanied by oxidative stress and neurodegenerative diseases. Time-restricted feeding (TRF) is a promising dietary intervention to slow aging and promote health. This study examined the effects of TRF on brain oxidative stress in aged <em>Drosophila melanogaster</em>, a well-established model organism for aging and neurodegeneration. Our experimental design included <em>ad libitum</em> feeding (control) and fasting protocols (8 and 12 h) of aged flies. The brain locomotor activity, oxidative stress, and antioxidant gene expression were then determined in the control and experimental groups. Our findings showed that TRF improves locomotor activity in aging organisms, suggesting a link between feeding patterns and behavioral outcomes. TRF also reduced oxidative stress by lowering malondialdehyde (MDA), a marker of lipid peroxidation, and increasing superoxide dismutase (SOD) and catalase activity. Additionally, TRF upregulated antioxidant genes such as SOD and CAT, demonstrating its ability to modulate cellular antioxidant defense mechanisms. TRF is a promising non-pharmacological approach to brain health and age-related oxidative stress in <em>Drosophila melanogaster</em>. These findings suggest that TRF may be an effective dietary intervention to improve aging trajectories and reduce age-related neurodegenerative diseases.</div></div><div><h3>Significance statement</h3><div>The findings in this study advance the sub-discipline of neuroprotection by demonstrating that time-restricted feeding significantly reduces brain oxidative stress and enhances antioxidant defenses, suggesting its potential as a non-pharmacological intervention for mitigating age-related cognitive decline and neurodegenerative diseases.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100246"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144314491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-04DOI: 10.1016/j.dscb.2025.100247
Peijing Li , Cuiping Li , Xipeng Xu
Systemic lupus erythematosus (SLE) complicated by brain abscess is fatal. In this article, we present a 58-year-old woman who presented to the neurosurgery department with a 1-week history of headache and 3-day history of intracranial space-occupying lesions. Cranial magnetic resonance (MR) enhancement imaging revealed abnormal signal shadowing in the right frontal lobe, raising suspicion for brain abscess and gliotic herniation. A right frontal abscess was drained, and a subsequent pus smear identified Staphylococcus. The case illustrate significant enhancements in both diagnostic and therapeutic approaches, markedly improving the management of brain abscesses compared to lupus encephalitis.
{"title":"Systemic lupus erythematosus complicated by brain abscess: A case report and literature review","authors":"Peijing Li , Cuiping Li , Xipeng Xu","doi":"10.1016/j.dscb.2025.100247","DOIUrl":"10.1016/j.dscb.2025.100247","url":null,"abstract":"<div><div>Systemic lupus erythematosus (SLE) complicated by brain abscess is fatal. In this article, we present a 58-year-old woman who presented to the neurosurgery department with a 1-week history of headache and 3-day history of intracranial space-occupying lesions. Cranial magnetic resonance (MR) enhancement imaging revealed abnormal signal shadowing in the right frontal lobe, raising suspicion for brain abscess and gliotic herniation. A right frontal abscess was drained, and a subsequent pus smear identified <em>Staphylococcus</em>. The case illustrate significant enhancements in both diagnostic and therapeutic approaches, markedly improving the management of brain abscesses compared to lupus encephalitis.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100247"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144240926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cornichons are auxiliary proteins that regulate the functions of AMPA receptors (AMPARs), which mediate fast excitatory transmission in the central nervous system. Initially discovered in lower organisms, cornichons have since been found across various species, including mammals and plants, indicating their conserved and broader roles beyond the nervous system. In mammals, cornichons, particularly CNIH2 and CNIH3, modulate the trafficking, gating, and biophysical properties of AMPARs, often working alongside other auxiliary proteins such as TARPs.
Recent structural studies have provided detailed insights into the topology of cornichons, revealing their integration into AMPAR complexes and highlighting their critical role in slowing AMPAR deactivation and desensitization. Their functional impact on excitatory synaptic transmission is subunit-specific and includes the modulation of conductance and ligand affinity. Beyond their role in the central nervous system, cornichons are implicated in intracellular trafficking processes, acting as cargo receptors for various membrane proteins.
This review synthesizes current knowledge on cornichon proteins, from their evolutionary origins and structural properties to their roles in AMPAR regulation and cargo transport. The emerging understanding of cornichons in non-neuronal systems and their potential involvement in neurological diseases opens new avenues for research with potential therapeutic applications.
{"title":"Cornichons: Evolution, AMPA receptor modulation, and emerging roles beyond the nervous system","authors":"Pratibha Bharti , Anshul Assaiya , Bhavya K Dawath , Janesh Kumar","doi":"10.1016/j.dscb.2025.100245","DOIUrl":"10.1016/j.dscb.2025.100245","url":null,"abstract":"<div><div>Cornichons are auxiliary proteins that regulate the functions of AMPA receptors (AMPARs), which mediate fast excitatory transmission in the central nervous system. Initially discovered in lower organisms, cornichons have since been found across various species, including mammals and plants, indicating their conserved and broader roles beyond the nervous system. In mammals, cornichons, particularly CNIH2 and CNIH3, modulate the trafficking, gating, and biophysical properties of AMPARs, often working alongside other auxiliary proteins such as TARPs.</div><div>Recent structural studies have provided detailed insights into the topology of cornichons, revealing their integration into AMPAR complexes and highlighting their critical role in slowing AMPAR deactivation and desensitization. Their functional impact on excitatory synaptic transmission is subunit-specific and includes the modulation of conductance and ligand affinity. Beyond their role in the central nervous system, cornichons are implicated in intracellular trafficking processes, acting as cargo receptors for various membrane proteins.</div><div>This review synthesizes current knowledge on cornichon proteins, from their evolutionary origins and structural properties to their roles in AMPAR regulation and cargo transport. The emerging understanding of cornichons in non-neuronal systems and their potential involvement in neurological diseases opens new avenues for research with potential therapeutic applications.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100245"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144231269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Intracranial dural Arteriovenous Fistulas (dAVFs) are rare vascular malformations with diverse clinical manifestations due to ischemia secondary to venous congestion or haemorrhage. Our case clinically and radiologically closely mimicked myelitis.
Case
We present a 58-year-old male with quadriparesis and bulbar involvement mimicking myelitis on MRI, not responding to the initial treatment with Intravenous Methylprednisolone (IVMPS) and Intravenous Immunoglobulin (IVIg). On subsequent visit to our center, repeat scanning revealed serpentine flow voids on the anterior surface of the cord. Digital Substraction Angiography (DSA) revealed a posterior fossa dAVF which was successfully obliterated with embolization leading to marked symptomatic improvement.
Conclusion
A high degree of suspicion is required when imaging suggestive of myelitis doesnot respond to immunomodulatory therapy. Imaging appearance of serpentine flow voids shall be closely looked for in all cases with myelitis.
{"title":"A dural arteriovenous fistula masquerading as myelitis- A case report","authors":"Tanushree Chawla , Anshu Mahajan , Gaurav Goel , Vinay Goyal","doi":"10.1016/j.dscb.2025.100243","DOIUrl":"10.1016/j.dscb.2025.100243","url":null,"abstract":"<div><h3>Introduction</h3><div>Intracranial dural Arteriovenous Fistulas (dAVFs) are rare vascular malformations with diverse clinical manifestations due to ischemia secondary to venous congestion or haemorrhage. Our case clinically and radiologically closely mimicked myelitis.</div></div><div><h3>Case</h3><div>We present a 58-year-old male with quadriparesis and bulbar involvement mimicking myelitis on MRI, not responding to the initial treatment with Intravenous Methylprednisolone (IVMPS) and Intravenous Immunoglobulin (IVIg). On subsequent visit to our center, repeat scanning revealed serpentine flow voids on the anterior surface of the cord. Digital Substraction Angiography (DSA) revealed a posterior fossa dAVF which was successfully obliterated with embolization leading to marked symptomatic improvement.</div></div><div><h3>Conclusion</h3><div>A high degree of suspicion is required when imaging suggestive of myelitis doesnot respond to immunomodulatory therapy. Imaging appearance of serpentine flow voids shall be closely looked for in all cases with myelitis.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100243"},"PeriodicalIF":0.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144298099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The study involved a cross-sectional, observational patient survey using QOLIE-31 to assess relationships between demographic characteristics (age, gender, and residence status) and clinical factors (seizure type, epilepsy duration, comorbid conditions, risk factors, therapy options (monotherapy or polytherapy) on health-related quality of life (QOL) in people with epilepsy. Research data collection includes 260 epilepsy patients who have visited Neurology departments of Khammam region tertiary care hospitals. The QOLIE-31 survey revealed unsatisfactory mean scores in the Seizure Worry (46.05 ± 7.59) and Overall Quality of Life (44.21 ± 8.14) domains and Social Functioning (43.31 ± 9.69) dimensions. All variables along with seizure type and therapy type and disease duration along with gender and age and comorbidities had substantial influence on QOL scores among epilepsy patients. The QOL scores tended to be lower for patients with focal onset aware seizures and received multiple antiseizure medications. In contrast, patients without health conditions who received one anti-seizure medication reported better QOL scores. The statistical results showed that both demographic elements and clinical measurements created significant effects on QOL (ANOVA p < 0.0001). Treating patients with a single drug regimen of levetiracetam resulted in more beneficial treatment outcomes and enhanced quality of life.
该研究采用QOLIE-31进行横断面观察性患者调查，以评估人口统计学特征（年龄、性别和居住状况）与临床因素(癫痫发作类型、癫痫持续时间、合并症、危险因素、治疗选择（单一治疗或多种治疗）与癫痫患者健康相关生活质量（QOL）之间的关系。研究数据收集包括260名到Khammam地区三级保健医院神经科就诊的癫痫患者。QOLIE-31调查显示，癫痫发作焦虑（46.05±7.59）、整体生活质量（44.21±8.14）和社会功能（43.31±9.69）三个维度的平均得分不理想。癫痫发作类型、治疗类型、病程、性别、年龄、合并症等因素均对癫痫患者的生活质量评分有显著影响。局灶性意识性癫痫发作并接受多种抗癫痫药物治疗的患者，其生活质量评分往往较低。相比之下，接受一种抗癫痫药物治疗的无健康状况患者的生活质量评分更高。统计结果显示，人口统计学因素和临床测量对生活质量均有显著影响(ANOVA p <；0.0001)。用左乙拉西坦单一药物治疗方案治疗患者可获得更有益的治疗结果并提高生活质量。
{"title":"A cross-sectional, observational study on quality of life in epilepsy patients","authors":"Devulapalli Shilpasree , Muthyala Sathish , Ruhul Amin Ahmed , Thirunagiri Praveen Kumar","doi":"10.1016/j.dscb.2025.100241","DOIUrl":"10.1016/j.dscb.2025.100241","url":null,"abstract":"<div><div>The study involved a cross-sectional, observational patient survey using QOLIE-31 to assess relationships between demographic characteristics (age, gender, and residence status) and clinical factors (seizure type, epilepsy duration, comorbid conditions, risk factors, therapy options (monotherapy or polytherapy) on health-related quality of life (QOL) in people with epilepsy. Research data collection includes 260 epilepsy patients who have visited Neurology departments of Khammam region tertiary care hospitals. The QOLIE-31 survey revealed unsatisfactory mean scores in the Seizure Worry (46.05 ± 7.59) and Overall Quality of Life (44.21 ± 8.14) domains and Social Functioning (43.31 ± 9.69) dimensions. All variables along with seizure type and therapy type and disease duration along with gender and age and comorbidities had substantial influence on QOL scores among epilepsy patients. The QOL scores tended to be lower for patients with focal onset aware seizures and received multiple antiseizure medications. In contrast, patients without health conditions who received one anti-seizure medication reported better QOL scores. The statistical results showed that both demographic elements and clinical measurements created significant effects on QOL (ANOVA <em>p</em> < 0.0001). Treating patients with a single drug regimen of levetiracetam resulted in more beneficial treatment outcomes and enhanced quality of life.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"19 ","pages":"Article 100241"},"PeriodicalIF":0.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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