Pub Date : 2025-12-18DOI: 10.1016/j.ensci.2025.100602
Anibal Arteaga-Noriega , Jose Zapata-Berruecos , Johanna Gutiérrez-Vargas , John Camilo Garcia , Diego Rojas-Gualdron , Manuela Restrepo-Botero
Background
Multiple sclerosis is a chronic, inflammatory, autoimmune disease of the central nervous system. Accumulating neurological disability has a substantial impact on the lives of patients with MS. The Expanded Disability Status Scale is a method of quantifying disability in MS.
Objective
The aim of this study was to analyze the disability trajectory across years of patients living with MS seen at the Neurological Institute and to explore factors associated with the rate of change per year.
Methods
A single-center study was conducted at the Neurological Institute located in the city of Medellin based on medical records obtained from 2013 to 2021. The clinical and demographic characteristics were analyzed using descriptive statistics. To recognize changes in the rate of increase in disability measured by the EDSS with increasing time lived with the disease, a polynomial model was used.
Results
Disability measured by the EDSS was not linear over time, there were times when disability progressed more rapidly and other times when it was slower. The bivariate model showed that variables such as gait medications and botulinum toxin had the highest beta values; however, the multivariate model showed that clinical and sociodemographic variables such as initial cerebellar symptoms and sex had the highest significant beta values.
Conclusion
This type of study facilitates predictions of natural history within the risk scheme. Prognostic models for chronic diseases are needed to guide management decisions and counseling of patients and their families. Such models can consider outcomes ranging from response to treatment to changes in disability.
{"title":"Factors associated with the progression of disability (EDSS) among MS patients","authors":"Anibal Arteaga-Noriega , Jose Zapata-Berruecos , Johanna Gutiérrez-Vargas , John Camilo Garcia , Diego Rojas-Gualdron , Manuela Restrepo-Botero","doi":"10.1016/j.ensci.2025.100602","DOIUrl":"10.1016/j.ensci.2025.100602","url":null,"abstract":"<div><h3>Background</h3><div>Multiple sclerosis is a chronic, inflammatory, autoimmune disease of the central nervous system. Accumulating neurological disability has a substantial impact on the lives of patients with MS. The Expanded Disability Status Scale is a method of quantifying disability in MS.</div></div><div><h3>Objective</h3><div>The aim of this study was to analyze the disability trajectory across years of patients living with MS seen at the Neurological Institute and to explore factors associated with the rate of change per year.</div></div><div><h3>Methods</h3><div>A single-center study was conducted at the Neurological Institute located in the city of Medellin based on medical records obtained from 2013 to 2021. The clinical and demographic characteristics were analyzed using descriptive statistics. To recognize changes in the rate of increase in disability measured by the EDSS with increasing time lived with the disease, a polynomial model was used.</div></div><div><h3>Results</h3><div>Disability measured by the EDSS was not linear over time, there were times when disability progressed more rapidly and other times when it was slower. The bivariate model showed that variables such as gait medications and botulinum toxin had the highest beta values; however, the multivariate model showed that clinical and sociodemographic variables such as initial cerebellar symptoms and sex had the highest significant beta values.</div></div><div><h3>Conclusion</h3><div>This type of study facilitates predictions of natural history within the risk scheme. Prognostic models for chronic diseases are needed to guide management decisions and counseling of patients and their families. Such models can consider outcomes ranging from response to treatment to changes in disability.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100602"},"PeriodicalIF":0.0,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145938858","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}
Spastic paraplegia type 79 (SPG79) is a rare form of hereditary spastic paraplegia caused by variants in ubiquitin C-terminal hydrolase L1 (UCHL1). SPG79B, an early-onset autosomal recessive subtype, frequently presents with lower motor neuron involvement, with myokymia as a characteristic feature. In contrast, SPG79A, a late-onset autosomal dominant form, rarely shows lower motor neuron signs, and myokymia has not previously been reported. We report the first documented case of myokymia in SPG79A.
A 74-year-old man with an 8-year history of progressive gait disturbance underwent detailed evaluation.
The patient exhibited slowly progressive spastic paraplegia and impaired proprioception in the lower extremities. Myokymia was observed in the extremities and trunk. Needle electromyography revealed spontaneous, repetitive discharges of motor unit potentials consistent with myokymia. Genetic testing identified a heterozygous nonsense variant in UCHL1 (c.532C > T: p. Arg178*), confirming a diagnosis of SPG79A.
The pathogenesis of both SPG79A and SPG79B likely involves partial loss of UCHL1 function, explaining their overlapping phenotypes. Symptom variability may reflect the extent of residual UCHL1 function, with SPG79B showing broader features, including myokymia. This case suggests that myokymia, though rare in hereditary spastic paraplegias, can also occur in SPG79A and may serve as a diagnostic clue.
痉挛性截瘫79型(SPG79)是一种罕见的遗传性痉挛性截瘫,由泛素c端水解酶L1 (UCHL1)变异引起。SPG79B是一种早发常染色体隐性亚型,常表现为运动神经元受累程度较低,以肌萎缩症为特征。相比之下,迟发性常染色体显性SPG79A很少表现出较低的运动神经元体征,肌肥大症以前未见报道。我们报告了SPG79A的第一例肌萎缩症。74岁男性,8年进行性步态障碍病史,接受详细评估。患者表现为缓慢进行性痉挛性截瘫和下肢本体感觉受损。四肢和躯干出现肌无力。针刺肌电图显示自发性、重复性的运动单位电位放电与肌萎缩症一致。基因检测在UCHL1中发现一个杂合无义变异(c.532C > T: p. Arg178*),确认诊断为SPG79A。SPG79A和SPG79B的发病机制可能与UCHL1功能的部分缺失有关,这解释了它们重叠的表型。症状的可变性可能反映了UCHL1功能残留的程度,SPG79B表现出更广泛的特征,包括肌弱症。本病例提示肌萎缩症虽然在遗传性痉挛性截瘫中罕见,但也可发生在SPG79A中,并可作为诊断线索。
{"title":"Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum","authors":"Natsumi Toyoda , Hiroyasu Komiya , Yosuke Miyaji , Shuhei Nishihama , Mutsuki Takeda , Tetsuya Asano , Shunta Hashiguchi , Keita Takahashi , Yuichi Higashiyama , Atsushi Fujita , Naomichi Matsumoto , Hiroshi Doi , Fumiaki Tanaka","doi":"10.1016/j.ensci.2025.100603","DOIUrl":"10.1016/j.ensci.2025.100603","url":null,"abstract":"<div><div>Spastic paraplegia type 79 (SPG79) is a rare form of hereditary spastic paraplegia caused by variants in <em>ubiquitin C-terminal hydrolase L1</em> (<em>UCHL1</em>). SPG79B, an early-onset autosomal recessive subtype, frequently presents with lower motor neuron involvement, with myokymia as a characteristic feature. In contrast, SPG79A, a late-onset autosomal dominant form, rarely shows lower motor neuron signs, and myokymia has not previously been reported. We report the first documented case of myokymia in SPG79A.</div><div>A 74-year-old man with an 8-year history of progressive gait disturbance underwent detailed evaluation.</div><div>The patient exhibited slowly progressive spastic paraplegia and impaired proprioception in the lower extremities. Myokymia was observed in the extremities and trunk. Needle electromyography revealed spontaneous, repetitive discharges of motor unit potentials consistent with myokymia. Genetic testing identified a heterozygous nonsense variant in <em>UCHL1</em> (c.532C > T: p. Arg178*), confirming a diagnosis of SPG79A.</div><div>The pathogenesis of both SPG79A and SPG79B likely involves partial loss of UCHL1 function, explaining their overlapping phenotypes. Symptom variability may reflect the extent of residual UCHL1 function, with SPG79B showing broader features, including myokymia. This case suggests that myokymia, though rare in hereditary spastic paraplegias, can also occur in SPG79A and may serve as a diagnostic clue.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100603"},"PeriodicalIF":0.0,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145797343","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}
We report neuroimaging findings from a 74-year-old right-handed male with Alzheimer’s disease (AD) and lesions of cerebral amyloid angiopathy (CAA), utilizing 11C-PiB-PET, 18F-THK5351-PET, and 18F-MK-6240-PET. 11C-PiB-PET showed positive findings consistent with AD. 18F-THK5351 accumulated in regions of astrogliosis due to tau pathology, subcortical hemorrhage, cortical superficial siderosis (cSS), and monoamine oxidase-B rich areas. 18F-MK-6240 accumulated in regions with tau pathology, subcortical hemorrhage, and cSS, but not notably in CAA-related microbleeds (CMBs). 99mTc-ECD SPECT, conducted 9 years post-diagnosis, revealed reduced cerebral blood flow in the bilateral lower temporal lobes and the right posterior temporo-parietal lobes, overlapping the subcortical hemorrhage and cSS. The patient exhibited progression of global cognitive decline and persistent word fluency deficits (name listing) on neuropsychological examination from the early stage of the disease, irrespective of the right hemorrhagic lesions in the non-dominant hemisphere, suggesting possible crossed aphasia. This is the first report of 18F-MK-6240 binding to a subcortical hemorrhage and cSS lesions, highlighting its binding differences compared to smaller vascular leakages, such as CMBs due to CAA. These results may help refine PET imaging interpretation and diagnostic accuracy for AD with concurrent CAA.
{"title":"18F-MK-6240 uptake in cortical tau and hemorrhagic lesions in a case of Alzheimer’s disease with possible crossed aphasia","authors":"Masaki Ikeda , Kenji Ishibashi , Masakuni Amari , Masaru Matsumura , Hiroo Kasahara , Jun Toyohara , Sayaka Kodaira , Tetsuya Higuchi , Yoshio Ikeda , Yoshito Tsushima , Koichi Okamoto , Kenji Ishii , Masamitsu Takatama","doi":"10.1016/j.ensci.2025.100596","DOIUrl":"10.1016/j.ensci.2025.100596","url":null,"abstract":"<div><div>We report neuroimaging findings from a 74-year-old right-handed male with Alzheimer’s disease (AD) and lesions of cerebral amyloid angiopathy (CAA), utilizing <sup>11</sup>C-PiB-PET, <sup>18</sup>F-THK5351-PET, and <sup>18</sup>F-MK-6240-PET. <sup>11</sup>C-PiB-PET showed positive findings consistent with AD. <sup>18</sup>F-THK5351 accumulated in regions of astrogliosis due to tau pathology, subcortical hemorrhage, cortical superficial siderosis (cSS), and monoamine oxidase-B rich areas. <sup>18</sup>F-MK-6240 accumulated in regions with tau pathology, subcortical hemorrhage, and cSS, but not notably in CAA-related microbleeds (CMBs). <sup>99m</sup>Tc-ECD SPECT, conducted 9 years post-diagnosis, revealed reduced cerebral blood flow in the bilateral lower temporal lobes and the right posterior temporo-parietal lobes, overlapping the subcortical hemorrhage and cSS. The patient exhibited progression of global cognitive decline and persistent word fluency deficits (name listing) on neuropsychological examination from the early stage of the disease, irrespective of the right hemorrhagic lesions in the non-dominant hemisphere, suggesting possible crossed aphasia. This is the first report of <sup>18</sup>F-MK-6240 binding to a subcortical hemorrhage and cSS lesions, highlighting its binding differences compared to smaller vascular leakages, such as CMBs due to CAA. These results may help refine PET imaging interpretation and diagnostic accuracy for AD with concurrent CAA.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100596"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145614235","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 : 2025-12-01DOI: 10.1016/j.ensci.2025.100598
Namrah Aziz , Shafaq Saleem , Saadia Sattar , Sara Khan , Mohammad Wasay , Saad Shafqat , Dureshawar Kanwar , Sarwar Siddiqui , Sajid Hameed , Mushyada Ali , Zainab Samad , Ayeesha Kamran Kamal
Background
Limited data exists on long-term stroke trends in low- and middle-income countries, including Pakistan, despite its growing burden. Understanding these trends is crucial for informing healthcare strategies and public health interventions. This study examines 20-year trends in stroke characteristics, risk factors, and mortality at a tertiary care center in Pakistan.
Methods
In this retrospective study, a secondary analysis was conducted using clinically digitized records from the Aga Khan University Hospital. Patients aged ≥18 years, admitted with stroke, and discharged between January 1, 1999, and December 31, 2018, were included. Stroke subtypes were classified using ICD-9 CM codes as ischemic stroke, intracerebral hemorrhage (ICH), or transient ischemic attack (TIA) and cross checked against discharge diagnosis and neuroimaging reports to validate case identification. The retrospective, single-center design and possible variability in coding accuracy should be considered limitations when interpreting results.
Results
The final cohort included 12,837 patients: 71.4 % ischemic stroke, 21.2 % ICH, and 7.4 % TIA. The median age was 62 years (IQR: 52–70). Stroke admissions rose over time (n = 1975 in 1999–2002 vs. n = 3829 in 2015–2018). Stroke prevalence increased among patients aged 18–40 (p = 0.005) and > 80 (p = 0.002). Risk factors including hypertension, diabetes, atrial fibrillation, smoking, and carotid artery stenosis rose significantly (all p < 0.001). The most frequent comorbidity cluster was hypertension and diabetes (26.3 %), followed by hypertension, diabetes, and dyslipidemia (5.6 %). Unadjusted in-hospital mortality was 9.1 %, declining from 10.4 % to 9.1 % (p = 0.022), primarily due to decreased ICH mortality (24.1 % to 16.4 %, p < 0.001). Mortality predictors included age > 80 (OR 1.70), ICH (OR 3.21), early admission years, complicated diabetes, atrial fibrillation, and multiple comorbidities.
Conclusion
Stroke patterns are shifting toward younger age and greater risk factor clustering, though in-hospital mortality has declined. Continued surveillance and targeted interventions are essential.
{"title":"Longitudinal trends in stroke risk factors and mortality over 20 years from a central stroke referral center in Pakistan using clinically digitized data","authors":"Namrah Aziz , Shafaq Saleem , Saadia Sattar , Sara Khan , Mohammad Wasay , Saad Shafqat , Dureshawar Kanwar , Sarwar Siddiqui , Sajid Hameed , Mushyada Ali , Zainab Samad , Ayeesha Kamran Kamal","doi":"10.1016/j.ensci.2025.100598","DOIUrl":"10.1016/j.ensci.2025.100598","url":null,"abstract":"<div><h3>Background</h3><div>Limited data exists on long-term stroke trends in low- and middle-income countries, including Pakistan, despite its growing burden. Understanding these trends is crucial for informing healthcare strategies and public health interventions. This study examines 20-year trends in stroke characteristics, risk factors, and mortality at a tertiary care center in Pakistan.</div></div><div><h3>Methods</h3><div>In this retrospective study, a secondary analysis was conducted using clinically digitized records from the Aga Khan University Hospital. Patients aged ≥18 years, admitted with stroke, and discharged between January 1, 1999, and December 31, 2018, were included. Stroke subtypes were classified using <strong>ICD-9 CM</strong> codes as ischemic stroke, intracerebral hemorrhage (ICH), or transient ischemic attack (TIA) and cross checked against discharge diagnosis and neuroimaging reports to validate case identification. The retrospective, single-center design and possible variability in coding accuracy should be considered limitations when interpreting results.</div></div><div><h3>Results</h3><div>The final cohort included 12,837 patients: 71.4 % ischemic stroke, 21.2 % ICH, and 7.4 % TIA. The median age was 62 years (IQR: 52–70). Stroke admissions rose over time (<em>n</em> = 1975 in 1999–2002 vs. <em>n</em> = 3829 in 2015–2018). Stroke prevalence increased among patients aged 18–40 (<em>p</em> = 0.005) and > 80 (<em>p</em> = 0.002). Risk factors including hypertension, diabetes, atrial fibrillation, smoking, and carotid artery stenosis rose significantly (all <em>p</em> < 0.001). The most frequent comorbidity cluster was hypertension and diabetes (26.3 %), followed by hypertension, diabetes, and dyslipidemia (5.6 %). Unadjusted in-hospital mortality was 9.1 %, declining from 10.4 % to 9.1 % (<em>p</em> = 0.022), primarily due to decreased ICH mortality (24.1 % to 16.4 %, <em>p</em> < 0.001). Mortality predictors included age > 80 (OR 1.70), ICH (OR 3.21), early admission years, complicated diabetes, atrial fibrillation, and multiple comorbidities.</div></div><div><h3>Conclusion</h3><div>Stroke patterns are shifting toward younger age and greater risk factor clustering, though in-hospital mortality has declined. Continued surveillance and targeted interventions are essential.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100598"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145614236","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 : 2025-11-29DOI: 10.1016/j.ensci.2025.100600
Seo-Young Choi , Jae-Hwan Choi , Kwang-Dong Choi
Background
Headache with papilledema is a critical neurological symptom that necessitates prompt evaluation for underlying central nervous system pathology. While often associated with conditions such as aneurysmal subarachnoid hemorrhage, hypertensive emergencies can also present with similar features and require immediate management to prevent end-organ damage.
Case presentation
A 41-year-old man with no significant medical history presented with acute severe headache, vomiting, and blurred vision in the left eye. His blood pressure was markedly elevated at 200/130 mmHg. Fundoscopic examination revealed optic disc swelling, flame-shaped hemorrhages, and exudates in both eyes. Brain MRI demonstrated asymmetric hyperintensities in the brainstem, consistent with hypertensive brainstem encephalopathy (HBE). Lumbar puncture revealed elevated intracranial pressure without evidence of infection or hemorrhage. Blood pressure control with intravenous calcium channel blockers resulted in rapid symptom resolution, and subsequent antihypertensive therapy led to complete recovery of brainstem lesions and significant improvement in papilledema.
Conclusion
HBE can present with severe headache and papilledema but minimal neurological deficits despite striking MRI abnormalities. Early recognition through neuroimaging and prompt blood pressure management are crucial in preventing irreversible damage and optimizing patient outcomes.
{"title":"Hypertensive brainstem encephalopathy with isolated headache and blurred vision: A case report","authors":"Seo-Young Choi , Jae-Hwan Choi , Kwang-Dong Choi","doi":"10.1016/j.ensci.2025.100600","DOIUrl":"10.1016/j.ensci.2025.100600","url":null,"abstract":"<div><h3>Background</h3><div>Headache with papilledema is a critical neurological symptom that necessitates prompt evaluation for underlying central nervous system pathology. While often associated with conditions such as aneurysmal subarachnoid hemorrhage, hypertensive emergencies can also present with similar features and require immediate management to prevent end-organ damage.</div></div><div><h3>Case presentation</h3><div>A 41-year-old man with no significant medical history presented with acute severe headache, vomiting, and blurred vision in the left eye. His blood pressure was markedly elevated at 200/130 mmHg. Fundoscopic examination revealed optic disc swelling, flame-shaped hemorrhages, and exudates in both eyes. Brain MRI demonstrated asymmetric hyperintensities in the brainstem, consistent with hypertensive brainstem encephalopathy (HBE). Lumbar puncture revealed elevated intracranial pressure without evidence of infection or hemorrhage. Blood pressure control with intravenous calcium channel blockers resulted in rapid symptom resolution, and subsequent antihypertensive therapy led to complete recovery of brainstem lesions and significant improvement in papilledema.</div></div><div><h3>Conclusion</h3><div>HBE can present with severe headache and papilledema but minimal neurological deficits despite striking MRI abnormalities. Early recognition through neuroimaging and prompt blood pressure management are crucial in preventing irreversible damage and optimizing patient outcomes.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100600"},"PeriodicalIF":0.0,"publicationDate":"2025-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145692206","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}
Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms that substantially affect quality of life (QoL). While dopaminergic dysfunction is central to PD pathology, the cross-sectional relationship between striatal dopaminergic activity and clinical outcomes remains incompletely understood. This study investigated associations between dopaminergic activity, measured via DATSCAN imaging, and clinical outcomes including cognitive performance, mobility, and QoL.
Methods
In this cross-sectional observational study, PD patients (n = 146; age 37.9–85.6 years) and healthy controls (n = 37; age 32.2–86.7 years) were evaluated. Cognitive and communication-related QoL were assessed using Neuro-QoL, motor and non-motor symptoms were quantified with MDS-UPDRS, and cognitive performance was measured using COGSTATE and derived indices (COGDECLN, COGCHG). DATSCAN imaging quantified striatal dopaminergic activity in the caudate and putamen. Correlations between DATSCAN metrics and clinical outcomes were analyzed, accounting for multiple comparisons.
Results
DATSCAN metrics showed no significant associations with cognitive performance or QoL, and only modest correlations with mobility measures. Sensitivity analyses confirmed robustness of these findings. The limited predictive value of DATSCAN underscores the complexity of PD, including contributions of non-dopaminergic mechanisms.
Conclusions
Although DATSCAN is valuable for confirming PD diagnosis, its ability to predict clinical outcomes such as cognition, QoL, or motor complications is limited. These results highlight the multifactorial nature of PD and the need to integrate dopaminergic imaging with comprehensive clinical assessments for personalized patient care.
{"title":"Association between DATSCAN-derived dopaminergic activity and cognitive performance and quality of life in Parkinson's disease: A cross-sectional study","authors":"Farzaneh Ramezani , SeyedAli Mahmoudi , Faezeh Safari","doi":"10.1016/j.ensci.2025.100599","DOIUrl":"10.1016/j.ensci.2025.100599","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms that substantially affect quality of life (QoL). While dopaminergic dysfunction is central to PD pathology, the cross-sectional relationship between striatal dopaminergic activity and clinical outcomes remains incompletely understood. This study investigated associations between dopaminergic activity, measured via DATSCAN imaging, and clinical outcomes including cognitive performance, mobility, and QoL.</div></div><div><h3>Methods</h3><div>In this <strong>cross-sectional observational study</strong>, PD patients (<em>n</em> = 146; age 37.9–85.6 years) and healthy controls (<em>n</em> = 37; age 32.2–86.7 years) were evaluated. Cognitive and communication-related QoL were assessed using Neuro-QoL, motor and non-motor symptoms were quantified with MDS-UPDRS, and cognitive performance was measured using COGSTATE and derived indices (COGDECLN, COGCHG). DATSCAN imaging quantified striatal dopaminergic activity in the caudate and putamen. Correlations between DATSCAN metrics and clinical outcomes were analyzed, accounting for multiple comparisons.</div></div><div><h3>Results</h3><div>DATSCAN metrics showed no significant associations with cognitive performance or QoL, and only modest correlations with mobility measures. Sensitivity analyses confirmed robustness of these findings. The limited predictive value of DATSCAN underscores the complexity of PD, including contributions of non-dopaminergic mechanisms.</div></div><div><h3>Conclusions</h3><div>Although DATSCAN is valuable for confirming PD diagnosis, its ability to predict clinical outcomes such as cognition, QoL, or motor complications is limited. These results highlight the multifactorial nature of PD and the need to integrate dopaminergic imaging with comprehensive clinical assessments for personalized patient care.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100599"},"PeriodicalIF":0.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145692204","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 : 2025-11-17DOI: 10.1016/j.ensci.2025.100597
Cédric Agbo-Panzo, Kadjo Cédric Kadjo, Chubaka Magala Gloire, Nancy Essoin, Delors Offoumou, Arlette AKA, Axel Toa, Davide Baugnan, Muriel Amon, Stephane Abbé, Samuel Yéo, Yves Broh, Constance Yapo, Christian Tanoh, Evelyne Aka, B. Assi
{"title":"Postpartum watershed strokes as initial manifestation of a rare co-occurrence of systemic lupus erythematosus and Takayasu Vasculitis: A case report of neuroimmunologic and literature review","authors":"Cédric Agbo-Panzo, Kadjo Cédric Kadjo, Chubaka Magala Gloire, Nancy Essoin, Delors Offoumou, Arlette AKA, Axel Toa, Davide Baugnan, Muriel Amon, Stephane Abbé, Samuel Yéo, Yves Broh, Constance Yapo, Christian Tanoh, Evelyne Aka, B. Assi","doi":"10.1016/j.ensci.2025.100597","DOIUrl":"10.1016/j.ensci.2025.100597","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100597"},"PeriodicalIF":0.0,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145624912","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}
Brain arteriovenous malformations (AVMs) are rare vascular anomalies managed with surgery, radiosurgery, or endovascular embolization. Post-embolization intracranial infections are extremely uncommon, especially Escherichia coli abscesses in immunocompetent adults.
Case presentation
We report a 37-year-old man with a giant left frontal AVM treated with staged Onyx® embolization. One month after the final session, he developed a left frontal brain abscess with motor aphasia and right-sided hemiparesis. Cultures grew hemolytic E. coli sensitive to multiple antibiotics. Recurrence after initial drainage necessitated complete AVM and nidus resection, followed by prolonged targeted antibiotic therapy, leading to resolution and neurological recovery.
Literature review
Intracranial E. coli infections and post-AVM embolization abscesses are rare, typically associated with systemic or local immunosuppression. Our case is among the first describing hemolytic E. coli abscess after Onyx® embolization in a healthy adult.
Conclusion
Retained embolic material, local inflammation, and blood–brain barrier disruption may facilitate infection. Early recognition and total removal, and prolonged targeted antibiotics are crucial to prevent recurrence and ensure favorable outcomes.
{"title":"Unexpected infectious complication following AVM embolization: E. coli brain abscess","authors":"Andrii Netliukh , Andrian Sukhanov , Nana Tchantchaleishvili","doi":"10.1016/j.ensci.2025.100594","DOIUrl":"10.1016/j.ensci.2025.100594","url":null,"abstract":"<div><h3>Background</h3><div>Brain arteriovenous malformations (AVMs) are rare vascular anomalies managed with surgery, radiosurgery, or endovascular embolization. Post-embolization intracranial infections are extremely uncommon, especially <em>Escherichia coli</em> abscesses in immunocompetent adults.</div></div><div><h3>Case presentation</h3><div>We report a 37-year-old man with a giant left frontal AVM treated with staged Onyx® embolization. One month after the final session, he developed a left frontal brain abscess with motor aphasia and right-sided hemiparesis. Cultures grew hemolytic <em>E. coli</em> sensitive to multiple antibiotics. Recurrence after initial drainage necessitated complete AVM and nidus resection, followed by prolonged targeted antibiotic therapy, leading to resolution and neurological recovery.</div></div><div><h3>Literature review</h3><div>Intracranial <em>E. coli</em> infections and post-AVM embolization abscesses are rare, typically associated with systemic or local immunosuppression. Our case is among the first describing hemolytic <em>E. coli</em> abscess after Onyx® embolization in a healthy adult.</div></div><div><h3>Conclusion</h3><div>Retained embolic material, local inflammation, and blood–brain barrier disruption may facilitate infection. Early recognition and total removal, and prolonged targeted antibiotics are crucial to prevent recurrence and ensure favorable outcomes.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"42 ","pages":"Article 100594"},"PeriodicalIF":0.0,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145692205","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}
Pneumocephalus, the presence of air within the intracranial space, is a rare but recognized complication following epidural procedures. It is more commonly associated with neurosurgical interventions or trauma. We report the case of a 94-year- old female who developed acute pneumocephalus during an epidural steroid injection, presenting with severe dizziness, hypertensive emergency (BP 236/137 mmHg), loss of consciousness, and subsequent spontaneous recovery. Computed tomography (CT) of the head revealed air in the suprasellar region, subarachnoid space, and third ventricle. The patient was treated conservatively with 100 % oxygen and positioning, showing marked improvement on follow-up imaging. This case highlights the importance of early recognition and management of pneumocephalus following epidural procedures, which can manifest with diverse and potentially severe symptoms. Prompt intervention typically results in a favorable prognosis, as seen in our patient, who was discharged without complications. Our case adds to the spectrum of clinical presentations by illustrating the uncommon combination of hypertensive crisis and acute pneumocephalus during an epidural procedure.
{"title":"Acute pneumocephalus following epidural procedure: An unusual presentation with hypertensive emergency and loss of consciousness","authors":"Sindu Mukesh , Sarayu Devabhaktuni , Sonum Devi , Ramit Singla , Chetan Saini","doi":"10.1016/j.ensci.2025.100595","DOIUrl":"10.1016/j.ensci.2025.100595","url":null,"abstract":"<div><div>Pneumocephalus, the presence of air within the intracranial space, is a rare but recognized complication following epidural procedures. It is more commonly associated with neurosurgical interventions or trauma. We report the case of a 94-year- old female who developed acute pneumocephalus during an epidural steroid injection, presenting with severe dizziness, hypertensive emergency (BP 236/137 mmHg), loss of consciousness, and subsequent spontaneous recovery. Computed tomography (CT) of the head revealed air in the suprasellar region, subarachnoid space, and third ventricle. The patient was treated conservatively with 100 % oxygen and positioning, showing marked improvement on follow-up imaging. This case highlights the importance of early recognition and management of pneumocephalus following epidural procedures, which can manifest with diverse and potentially severe symptoms. Prompt intervention typically results in a favorable prognosis, as seen in our patient, who was discharged without complications. Our case adds to the spectrum of clinical presentations by illustrating the uncommon combination of hypertensive crisis and acute pneumocephalus during an epidural procedure.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100595"},"PeriodicalIF":0.0,"publicationDate":"2025-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145568448","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}
Fatigue is a prevalent and disabling consequence of ischemic stroke in young adults, yet its multifactorial nature and impact on recovery remain underexplored. This study investigates predictors of post-stroke fatigue and association with return to work (RTW) and other variables at a one-year follow-up (1y-FU) after ischemic stroke.
Methods
We analysed data from 130 patients aged 15–49 years with MRI-confirmed acute ischemic stroke enrolled in the Norwegian Stroke in Young Study II. Fatigue and cognitive symptoms were assessed using standardized self-report and clinical evaluations at 1y-FU. Multivariable logistic regression identified independent predictors of persistent fatigue, adjusting for age, sex, and stroke severity.
Results
At 1y-FU, 50 % of patients reported persistent fatigue. Fatigue was independently associated with failure to RTW (OR 3.2, 95 % CI 1.8–5.6), migraine without aura (OR 2.1, 95 % CI 1.3–3.4), hearing difficulties (OR 2.0, 95 % CI 1.1–3.8), concentration problems (OR 2.4, 95 % CI 1.5–4.0), and pain (OR 2.6, 95 % CI 1.5–4.5). Patients with resolved fatigue were significantly more likely to RTW (65.9 %) compared to those with persistent symptoms (34.2 %, p < 0.001). Cognitive impairment at admission was common (45.9 %), and among these patients, 52.2 % reported persistent deficits at 1y-FU. Fatigue severity was not associated with educational attainment but increased with age and NIHSS score.
Conclusions
Fatigue affects half of young ischemic stroke survivors after 1 year, substantially hindering RTW. Novel associations with migraine, hearing and cognitive deficits, and pain suggest underrecognized contributors that may be amenable to individually targeted rehabilitation. Integration of fatigue management into early stroke rehabilitation programs, with a focus on cognitive, sensory, and pain-related domains, may help optimize vocational and functional outcomes.
疲劳是年轻人缺血性中风的一种普遍致残后果,但其多因素性质及其对恢复的影响仍未得到充分研究。本研究调查了缺血性卒中后疲劳的预测因素以及与恢复工作(RTW)和其他变量的关联,随访一年(1y-FU)。方法:我们分析了130例年龄在15-49岁的mri确诊急性缺血性卒中患者的数据,这些患者参加了挪威卒中研究II。使用标准化的自我报告和临床评估来评估疲劳和认知症状。多变量逻辑回归确定了持续疲劳的独立预测因子,调整了年龄、性别和中风严重程度。结果在1 - fu中,50%的患者报告持续性疲劳。疲劳与RTW失败(OR 3.2, 95% CI 1.8-5.6)、无先兆偏头痛(OR 2.1, 95% CI 1.3-3.4)、听力困难(OR 2.0, 95% CI 1.1-3.8)、注意力集中问题(OR 2.4, 95% CI 1.5-4.0)和疼痛(OR 2.6, 95% CI 1.5-4.5)独立相关。与持续症状的患者(34.2%,p < 0.001)相比,缓解疲劳的患者更有可能发生RTW(65.9%)。入院时的认知障碍很常见(45.9%),在这些患者中,52.2%的患者报告了1y-FU时的持续缺陷。疲劳程度与受教育程度无关,但随年龄和NIHSS评分而增加。结论半数年轻缺血性脑卒中幸存者1年后出现疲劳,严重阻碍RTW。与偏头痛、听力和认知缺陷以及疼痛的新关联表明,可能存在一些未被充分认识的因素,可以进行个体化的针对性康复。将疲劳管理整合到早期中风康复计划中,重点关注认知、感觉和疼痛相关领域,可能有助于优化职业和功能结果。
{"title":"Post-stroke fatigue and its consequences in young adults: The Norwegian Stroke in the Young Study II","authors":"Mohamad Farah , Beenish Nawaz , Annette Fromm , Sahrai Saeed , Nicolas Martinez-Majander , Jukka Putaala , Ulrike Waje-Andreassen , Halvor Næss","doi":"10.1016/j.ensci.2025.100593","DOIUrl":"10.1016/j.ensci.2025.100593","url":null,"abstract":"<div><h3>Background</h3><div>Fatigue is a prevalent and disabling consequence of ischemic stroke in young adults, yet its multifactorial nature and impact on recovery remain underexplored. This study investigates predictors of post-stroke fatigue and association with return to work (RTW) and other variables at a one-year follow-up (1y-FU) after ischemic stroke.</div></div><div><h3>Methods</h3><div>We analysed data from 130 patients aged 15–49 years with MRI-confirmed acute ischemic stroke enrolled in the Norwegian Stroke in Young Study II. Fatigue and cognitive symptoms were assessed using standardized self-report and clinical evaluations at 1y-FU. Multivariable logistic regression identified independent predictors of persistent fatigue, adjusting for age, sex, and stroke severity.</div></div><div><h3>Results</h3><div>At 1y-FU, 50 % of patients reported persistent fatigue. Fatigue was independently associated with failure to RTW (OR 3.2, 95 % CI 1.8–5.6), migraine without aura (OR 2.1, 95 % CI 1.3–3.4), hearing difficulties (OR 2.0, 95 % CI 1.1–3.8), concentration problems (OR 2.4, 95 % CI 1.5–4.0), and pain (OR 2.6, 95 % CI 1.5–4.5). Patients with resolved fatigue were significantly more likely to RTW (65.9 %) compared to those with persistent symptoms (34.2 %, <em>p</em> < 0.001). Cognitive impairment at admission was common (45.9 %), and among these patients, 52.2 % reported persistent deficits at 1y-FU. Fatigue severity was not associated with educational attainment but increased with age and NIHSS score.</div></div><div><h3>Conclusions</h3><div>Fatigue affects half of young ischemic stroke survivors after 1 year, substantially hindering RTW. Novel associations with migraine, hearing and cognitive deficits, and pain suggest underrecognized contributors that may be amenable to individually targeted rehabilitation. Integration of fatigue management into early stroke rehabilitation programs, with a focus on cognitive, sensory, and pain-related domains, may help optimize vocational and functional outcomes.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100593"},"PeriodicalIF":0.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145417288","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}