eNeurologicalSci最新文献

{"title":"FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia","authors":"Homare Funasaka,&nbsp;Serika Kanazawa,&nbsp;Sachiko Kamada","doi":"10.1016/j.ensci.2025.100578","DOIUrl":"10.1016/j.ensci.2025.100578","url":null,"abstract":"<div><div>FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI. FXTAS is almost never considered in the context of cervical dystonia. However, this case demonstrates that FXTAS can initially present with cervical dystonia.</div><div>A 59-year-old man presented with cervical dystonia, characterized by right lateral flexion, and sensory trick. His initial symptom was cervical tilt at age 54. At age 55, the patient developed an unsteady gait. The patient was unable to perform a tandem gait and stand up from a crouch, suggesting trunk ataxia, and exhibited lateral gaze nystagmus, which was indicative of a cerebellar disorder. MRI revealed MCP sign. Genetic testing confirmed FXTAS, revealing 90 CGG repeats in the <em>FMR 1</em> (Fragile X Mental Retardation 1) gene.</div><div>Notably, a pre-symptomatic MRI, incidentally acquired at the age of 52, retrospectively revealed the presence of the MCP sign. This suggests that, even when FXTAS initially presents as cervical dystonia, the MCP sign can remain a reliable diagnostic feature for early detection.</div><div>This case highlights that early FXTAS may mimic idiopathic cervical dystonia and that considering FXTAS during the clinical evaluation of cervical dystonia can enable early diagnosis.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100578"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144712025","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}

{"title":"Changes in conditioned pain modulation using anti-Parkinson drugs in patients with Parkinson's disease","authors":"Eiichirou Urasaki ,&nbsp;Yasushi Miyagi ,&nbsp;Junji Kishimoto","doi":"10.1016/j.ensci.2025.100574","DOIUrl":"10.1016/j.ensci.2025.100574","url":null,"abstract":"<div><h3>Objectives</h3><div>Patients with Parkinson's disease (PD) highly complain of pain, probably due to the lowered pain threshold caused by dopamine deficiency. Nonetheless, only a few studies have investigated the effects of anti-PD medications on “pain inhibits pain” ability. This study aimed to evaluate conditioned pain modulation (CPM) using the cutaneous silent period (CSP) and the numerical rating scale (NRS) and to investigate the effect of anti-PD medications on CPM.</div></div><div><h3>Materials and methods</h3><div>The CSP was recorded in 40 patients with PD under drug-on and drug-off conditions. Changes in the CSP elicited by electrical test stimulation and in the NRS when the patients experienced pain with cold pressure as a conditioned stimulus were assessed. A shortened CSP duration or reduced CSP score due to cold pressure were interpreted as objective CPM responses.</div></div><div><h3>Results</h3><div>The CSP latency was analyzed in 22 patients when the electromyographic contamination in the CSP waveform was low. The CSP duration shortening during cold pressure was significantly greater under the drug-on condition than under the drug-off condition. The change in CSP duration exhibited a significant correlation with the change in the NRS scores. CSP score analysis was performed on 18 patients in whom latency analysis was difficult owing to electromyographic contamination. In the drug-on state, conditioned cold-pressure pain significantly decreased the CSP score.</div></div><div><h3>Conclusions</h3><div>Dynamic changes in the CSP caused by cold pressure in patients with PD suggest that anti-PD medications may enhance CPM ability.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100574"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662918","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}

{"title":"Pupil response as a window into cognitive processing in amyotrophic lateral sclerosis","authors":"Mohamad El Haj ,&nbsp;Souheil Hallit ,&nbsp;Claire Boutoleau-Bretonnière","doi":"10.1016/j.ensci.2025.100575","DOIUrl":"10.1016/j.ensci.2025.100575","url":null,"abstract":"<div><h3>Purpose</h3><div>This preliminary study aimed to investigate whether the pupil size reflects cognitive load in patients with amyotrophic lateral sclerosis (ALS).</div></div><div><h3>Methods</h3><div>Pupil activity was monitored in three patients with ALS and a group of healthy control participants (<em>n</em> = 16) while performing three tasks: a forward span task, a backward span task, and a control task involving counting aloud. These tasks were designed to impose increasing cognitive demands, with the backward span task being the most challenging.</div></div><div><h3>Results</h3><div>Analysis revealed no significant difference in pupil size between patients with ALS and controls for the forward or backward spans or the control condition. Both groups demonstrated a consistent pattern of increased pupil size during the backward span task compared to the forward span task, and during the forward span task compared to the control condition.</div></div><div><h3>Conclusion</h3><div>These findings suggest that pupil dilation reflects task-related cognitive load similarly in ALS patients and healthy controls. This supports the use of pupillometry as a non-invasive and sensitive marker of cognitive processing in ALS.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100575"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144604222","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}

{"title":"Elizabethkingia meningoseptica infection in a geriatric patient with other recurrent bacterial infections","authors":"Luis Castañeda Pelaez ,&nbsp;Jesús Eduardo Rojas Jaimes ,&nbsp;Elsa Nuñez Infanzón ,&nbsp;Delza Tárraga Gonzales ,&nbsp;Sergio Ronceros Medrano","doi":"10.1016/j.ensci.2025.100576","DOIUrl":"10.1016/j.ensci.2025.100576","url":null,"abstract":"<div><div><em>Elizabethkingia meningoseptica</em> is a Gram-negative bacillary bacterium known for its multidrug resistance, particularly to carbapenems. This resistance complicates treatment and results in a high mortality rate, especially in hospitalized patients, which can reach up to 52 %. In this case, the infection was observed in a 73-year-old immunocompetent patient with a chronic exacerbated subdural hemorrhage with midline deviation and tracheostomy, who was hospitalized and febrile, and the bacterium <em>Elizabethkingia meningoseptica</em> was isolated in bronchial secretion cultures. The patient responded favorably to treatment with sulfamethoxazole/trimethoprim and other recurrent infections caused by <em>Klebsiella pneumoniae</em>, <em>Stenotrophomonas maltophilia,</em> and <em>Pseudomonas aeruginosa</em>. Ultimately, the immunocompetent patient improved and was discharged, able to ventilate independently.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100576"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611633","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}

{"title":"Antecedent sedative use is independently associated with stroke occurrence among west Africans: Evidence from the SIREN case-control study","authors":"Ezinne O. Uvere ,&nbsp;Joshua Akinyemi ,&nbsp;Fred S. Sarfo ,&nbsp;Adekunle Fakunle ,&nbsp;Akinkunmi Paul Okekunle ,&nbsp;Onoja Akpa ,&nbsp;Albert Akpalu ,&nbsp;Kolawole Wahab ,&nbsp;Reginald Obiako ,&nbsp;Morenikeji Komolafe ,&nbsp;Lukman Owolabi ,&nbsp;Godwin O. Osaigbovo ,&nbsp;Godwin Ogbole ,&nbsp;Hemant K. Tiwari ,&nbsp;Carolyn Jenkins ,&nbsp;Samuel Olowookere ,&nbsp;Oyedunni Arulogun ,&nbsp;Josephine Akpalu ,&nbsp;Osahon J. Asowata ,&nbsp;Philip Ibinaiye ,&nbsp;Mayowa Owolabi","doi":"10.1016/j.ensci.2025.100573","DOIUrl":"10.1016/j.ensci.2025.100573","url":null,"abstract":"<div><h3>Background</h3><div>Several factors have been independently associated with stroke occurrence globally. However, the association between sedative use and stroke risk is yet to be established in West Africa.</div></div><div><h3>Objective</h3><div>To assess the association between sedatives and stroke among West Africans.</div></div><div><h3>Methods</h3><div>Adults aged ≥18 years with confirmed stroke as well as age- and sex-matched controls were enrolled into the Stroke Investigative Research and Education Network (SIREN) study. Sedative use was determined by retrospective assessment on the use of any type of sedative in the preceding year while stroke was confirmed with brain scan and clinical features. Univariate and multivariate analyses, using logistic regressions, were performed to establish associations between sedative use and stroke while adjusting for other stroke risk factors.</div></div><div><h3>Results</h3><div>A total of 7104 subjects (3553 stroke cases and 3551 stroke-free controls participated in this study. The mean age was 60.9 ± 0.78 among cases and 59.8 ± 11.44 years among controls (<em>p</em> &lt; 0.029). History of sedative use was more common in cases (7.7 %) compared to controls (4.3 %; <em>p</em> &lt; 0.001)<strong>.</strong> After adjusting for age, income &gt;$100, history of hypertension, diabetes, dyslipidaemia, tobacco &amp; alcohol use, physical inactivity, green leafy vegetable and meat consumption, sedative use was independently associated with stroke risk (aOR: 1.41; 95 %CI: 1.01–1.96; <em>p</em> &lt; 0.041). Sedative use was associated with higher odds of stroke among adults aged ≥50 years (aOR: 1.53; 95 %CI: 1.28–2.04; <em>p</em> &lt; 0.019).</div></div><div><h3>Conclusion</h3><div>Sedative use was independently associated with stroke risk among adults in West Africa. Its use requires further exploration and prospective study to address the emerging association with stroke occurrence.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100573"},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144291475","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}

{"title":"Experience with surgical evacuation of neonatal brain abscess: A patient series and review of literature","authors":"Sunil Kumar ,&nbsp;Pradeep Kumar ,&nbsp;Vivek Sanker ,&nbsp;Savvy Aujla ,&nbsp;Kanika Handu ,&nbsp;Riya Mary Richard ,&nbsp;S. Gayathri ,&nbsp;Tirth Dave","doi":"10.1016/j.ensci.2025.100572","DOIUrl":"10.1016/j.ensci.2025.100572","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal brain abscess is a focal intracerebral infection that, although rare in neonates, is associated with high mortality rates and long-term complications. In neonates, it mainly occurs as a complication of neonatal sepsis and meningitis. This case series reports three cases of neonatal brain abscesses involving infants who presented with fever and other symptoms and were treated with antibiotics, surgical evacuation, and prophylactic anti-epileptic treatment. Following treatment, all infants showed marked radiological improvement and reduced abscess size. In addition, pus culture, blood culture, and CSF analysis reports were typical. Despite the severe nature of the condition, all three infants recovered well and achieved appropriate developmental milestones.</div></div><div><h3>Observations</h3><div>Neonatal brain abscess should be suspected in neonates with sepsis or meningitis developing fever, poor feeding, seizures, or general deterioration of health despite treatment. It is most commonly caused by gram-negative bacteria. However, in many instances, like in our 3 cases, sterile fluid may be aspirated from a brain abscess, which is considered a good prognostic factor.</div></div><div><h3>Lessons</h3><div>Early diagnosis of neonatal brain abscess with high clinical suspicion use of neuroradiological imaging and prompt treatment with sensitive antibiotics and neurosurgical interventions can improve the prognosis and reduce its complications.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100572"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212372","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}

{"title":"A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions","authors":"Kunihiko Ishizawa ,&nbsp;Kentaro Hashimoto ,&nbsp;Hironori Oka ,&nbsp;Takashi Sugawara ,&nbsp;Masakuni Amari ,&nbsp;Takeshi Kawarabayashi ,&nbsp;Koichi Okamoto ,&nbsp;Chisato Tamai ,&nbsp;Jun Sone ,&nbsp;Yoshio Ikeda ,&nbsp;Masamitsu Takatama ,&nbsp;Mikio Shoji","doi":"10.1016/j.ensci.2025.100571","DOIUrl":"10.1016/j.ensci.2025.100571","url":null,"abstract":"<div><div>Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the <em>FMR1</em> gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome caused by a premutation of the <em>FMR1</em> gene with approximately 80–110 CGG repeats. He demonstrated progressive cognitive decline, dysarthria, truncal ataxia, and incoordination. Magnetic resonance imaging revealed prominent middle cerebellar peduncle and corpus callosum splenium signs, while skin biopsy showed p62-positive nuclear inclusion bodies. Genetic analysis showed no expansion of the <em>NOTCH2NLC</em> gene. The diagnosis of fragile X-associated tremor/ataxia syndrome was confirmed by the CGG repeats in the <em>FMR1</em> gene. We discovered new superior cerebellar peduncle and superior cerebellar peduncle decussation lesions in our case, suggesting the possibility of prominent and early magnetic resonance imaging lesions in fragile X-associated tremor/ataxia syndrome.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100571"},"PeriodicalIF":0.0,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144138453","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}

{"title":"Anna GALSTYAN the first Armenian female neurosurgeon","authors":"Keyvan Mostofi","doi":"10.1016/j.ensci.2025.100569","DOIUrl":"10.1016/j.ensci.2025.100569","url":null,"abstract":"<div><div>The number of women in the field of neurosurgery has been steadily increasing over the past 20 years. However, there still exists a significant gender disparity worldwide, with men predominantly occupying this profession. Recognizing and highlighting the contributions of female pioneers in neurosurgery is crucial to prevent these talented women from being overlooked. One notable figure in this regard is Anna Galstyan, the first female Armenian neurosurgeon. Born in Abovyan, Armenia in 1976, she graduated from Yerevan's medical school in 1998 and further specialized in oncological, pediatric, and endoscopic neurosurgery at the Burdenko Neurosurgery Institute in Moscow. Galstyan has honed her skills through various workshops, scientific projects, and research studies conducted in both the United States and Europe. She currently lives and works in Armenia.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100569"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144115135","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}

{"title":"Phosphorylated TDP-43 and tau deposition around the tip of deep brain stimulation leads","authors":"Goichi Beck ,&nbsp;Yuki Yonenobu ,&nbsp;Kenichiro Maeda ,&nbsp;Satoru Oshino ,&nbsp;Haruhiko Kishima ,&nbsp;Masanori P. Takahashi ,&nbsp;Hideki Mochizuki ,&nbsp;Shigeo Murayama","doi":"10.1016/j.ensci.2025.100568","DOIUrl":"10.1016/j.ensci.2025.100568","url":null,"abstract":"<div><div>Deep brain stimulation (DBS) is an established and effective surgical treatment for movement disorders, including Parkinson's disease (PD). However, postmortem studies of patients with PD have revealed the presence of gliosis and inflammatory responses around the tracts of DBS electrodes. The objective of this study was to investigate the deposition of abnormal proteins, including phosphorylated tau (p-tau) and transactivation response DNA-binding protein 43 kDa (p-TDP-43), around the tips of DBS electrodes. Neuropathological examination was performed in two Japanese patients with PD: Case 1 describes a patient who underwent DBS lead placement into the left ventral intermediate nucleus of the thalamus at 79 years of age, and died at 88 years of age; Case 2 describes a patient who underwent DBS lead placement into the bilateral subthalamic nuclei at 70 years of age, and died 14 years after surgery. Postmortem neuropathological examination revealed fibrous gliosis, mild infiltration of lymphocytes, and hemosiderin deposition around the DBS lead tip-associated defects. Moreover, p-TDP-43 and p-tau deposits were visible around the electrode termination sites in both cases. These findings suggest that p-TDP-43 and p-tau accumulated around the DBS lead tip in response to chronic DBS. This is the first study to report the deposition of p-TDP-43 around the tip of a DBS electrode.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"39 ","pages":"Article 100568"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069683","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}

{"title":"Effects of immunotherapy on isolated optic neuritis associated with ozoralizumab, a novel anti-tumor necrosis factor α NANOBODY® compound: A case report","authors":"Masato Okitsu ,&nbsp;Keizo Sugaya ,&nbsp;Yuya Shiotani ,&nbsp;Kazushi Takahashi","doi":"10.1016/j.ensci.2025.100567","DOIUrl":"10.1016/j.ensci.2025.100567","url":null,"abstract":"<div><div>Tumor necrosis factor (TNF)-α inhibitors rarely cause optic neuritis as a side effect although the disease associated with ozoralizumab, a novel anti-TNF-α NANOBODY® compound, has not been reported. A 76-year-old female with rheumatoid arthritis, medicated with ozoralizumab, was hospitalized with a two-day history of extending partial visual field loss in the left eye. Campimetry revealed top horizontal hemianopia in the left eye. Swelling and abnormally high intensity of the left optic nerve were observed in magnetic resonance imaging. Visual evoked potential tests revealed delayed latency and reduced amplitude on the left side. She was diagnosed with ozoralizumab-associated isolated optic neuritis and cured with two courses of high-dose intravenous methylprednisolone, followed by oral prednisolone. Ozoralizumab may be associated with optic neuritis although early diagnosis and immunotherapy possibly achieve a good outcome.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"39 ","pages":"Article 100567"},"PeriodicalIF":0.0,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143941645","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}