eNeurologicalSci最新文献

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions 脆性x相关震颤/共济失调综合征伴小脑上足部病变1例

eNeurologicalSci Pub Date : 2025-05-25 DOI: 10.1016/j.ensci.2025.100571

Kunihiko Ishizawa , Kentaro Hashimoto , Hironori Oka , Takashi Sugawara , Masakuni Amari , Takeshi Kawarabayashi , Koichi Okamoto , Chisato Tamai , Jun Sone , Yoshio Ikeda , Masamitsu Takatama , Mikio Shoji

{"title":"A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions","authors":"Kunihiko Ishizawa , Kentaro Hashimoto , Hironori Oka , Takashi Sugawara , Masakuni Amari , Takeshi Kawarabayashi , Koichi Okamoto , Chisato Tamai , Jun Sone , Yoshio Ikeda , Masamitsu Takatama , 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}

引用次数: 0

Anna GALSTYAN the first Armenian female neurosurgeon Anna GALSTYAN亚美尼亚第一位女性神经外科医生

eNeurologicalSci Pub Date : 2025-05-20 DOI: 10.1016/j.ensci.2025.100569

Keyvan Mostofi

引用次数: 0

Phosphorylated TDP-43 and tau deposition around the tip of deep brain stimulation leads TDP-43磷酸化和脑深部刺激导联尖端周围的tau沉积

eNeurologicalSci Pub Date : 2025-05-13 DOI: 10.1016/j.ensci.2025.100568

Goichi Beck , Yuki Yonenobu , Kenichiro Maeda , Satoru Oshino , Haruhiko Kishima , Masanori P. Takahashi , Hideki Mochizuki , Shigeo Murayama

{"title":"Phosphorylated TDP-43 and tau deposition around the tip of deep brain stimulation leads","authors":"Goichi Beck , Yuki Yonenobu , Kenichiro Maeda , Satoru Oshino , Haruhiko Kishima , Masanori P. Takahashi , Hideki Mochizuki , 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}

引用次数: 0

Effects of immunotherapy on isolated optic neuritis associated with ozoralizumab, a novel anti-tumor necrosis factor α NANOBODY® compound: A case report

eNeurologicalSci Pub Date : 2025-05-11 DOI: 10.1016/j.ensci.2025.100567

Masato Okitsu , Keizo Sugaya , Yuya Shiotani , Kazushi Takahashi

引用次数: 0

An invisible enemy. Echoacousis and aphasia as a rare presentation of a non convulsive status epilepticus. Clinical case 看不见的敌人。回声和失语是罕见的非惊厥性癫痫持续状态的表现。临床病例

eNeurologicalSci Pub Date : 2025-04-15 DOI: 10.1016/j.ensci.2025.100565

Yuliia Solodovnikova , Anatoliy Son , Tetiana Marusich , Asel Jusupova

{"title":"An invisible enemy. Echoacousis and aphasia as a rare presentation of a non convulsive status epilepticus. Clinical case","authors":"Yuliia Solodovnikova , Anatoliy Son , Tetiana Marusich , Asel Jusupova","doi":"10.1016/j.ensci.2025.100565","DOIUrl":"10.1016/j.ensci.2025.100565","url":null,"abstract":"<div><div>Status epilepticus is not always an easily recognised condition, which can become a cause of serious consequences, and even death. It can present in two clinical forms: convulsive and nonconvulsive. The clinical symptoms representing nonconvulsive status epilepticus (NCSE) can vary a lot and sometimes be very misleading. We present here a case of a woman, who is a carrier of 6 platinum spirals as a result of endovascular aneurysm embolisation and has undergone a surgery for the removal of the left temporal lobe meningioma. The patient showed the signs of sensorimotor aphasia and echoacusis in the early postoperative period. Taking into account the past history of a tonic-clonic seizure and inability to perform EEG during the clinical manifestations, the diagnosis of NCSE was done clinically, and the treatment started immediately with the IV diazepam and valproic acid administration, leading to complete resolution of aphasia and echoacusis.</div><div>Negative neurological clinical symptoms are rare in the presentation of epilepsy, and echolalia is not yet described as a symptom of a NCSE. In our case the patient presents with the combination of these two symptoms, which can make the diagnosing even more challenging. This case report aims to highlight the variety of clinical symptoms which can represent NCSE and prompt early diagnosis and treatment, avoiding life threatening consequences.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"39 ","pages":"Article 100565"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838428","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}

引用次数: 0

Neurophobia among students and interns at the Abidjan Faculty of Medicine (Côte d'Ivoire) 阿比让医学院学生和实习生的神经恐惧症（Côte科特迪瓦）

eNeurologicalSci Pub Date : 2025-04-15 DOI: 10.1016/j.ensci.2025.100566

Kadjo Claude Valery Cedric Aka , Essoin-de Souza Tamia Nancy , Amon-tanoh Muriel , Agbo-Panzo Cedric , Offoumou Fiacre Delors , Aka Arlette Desirée , Baugnan Davide , Toa Bi Axel , Yapo-Ehounoud Constance , Tanoh Christian , Aka-Diarra Evelyne , Assi Berthe

{"title":"Neurophobia among students and interns at the Abidjan Faculty of Medicine (Côte d'Ivoire)","authors":"Kadjo Claude Valery Cedric Aka , Essoin-de Souza Tamia Nancy , Amon-tanoh Muriel , Agbo-Panzo Cedric , Offoumou Fiacre Delors , Aka Arlette Desirée , Baugnan Davide , Toa Bi Axel , Yapo-Ehounoud Constance , Tanoh Christian , Aka-Diarra Evelyne , Assi Berthe","doi":"10.1016/j.ensci.2025.100566","DOIUrl":"10.1016/j.ensci.2025.100566","url":null,"abstract":"<div><h3>Introduction</h3><div>As defined by Jozefowicz in 1994, neurophobia is the fear of neuroscience and clinical neurology. We carried out this study, the first on neurophobia in the Ivory Coast, in order to assess its prevalence among medical students and interns in the Ivorian environment, to identify the factors involved and to propose solutions.</div></div><div><h3>Methodology</h3><div>This was a prospective cross-sectional study carried out during the 2022–2023 academic year at the Abidjan UFR of Medical Sciences. The study population consisted of all students in years 3<sup>ème</sup> to 6<sup>ème</sup> and hospital interns. The Schon questionnaire, transcribed using google form software, was sent to students using the “wathsapp” social network.</div></div><div><h3>Result</h3><div>We obtained 284 responses, i.e. 23 % of all respondents (<em>n</em> = 1228). The sex ratio was 1.65 in favour of men. The subjects considered that they had a level of competence in neurology higher than 6 of the nine specialities selected. These were nephrology, cardiology, rheumatology, endocrinology, psychiatry and geriatrics. Neurology was considered more difficult than cardiology, endocrinology, psychiatry and geriatrics. Subjects' level of knowledge in neurology was rated higher than in nephrology, cardiology, rheumatology, endocrinology, psychiatry and geriatrics. The subjects' level of interest in neurology was higher than in the other specialities. 27.46 % of subjects surveyed were neurophobic.</div></div><div><h3>Conclusion</h3><div>The impact of neurophobia remains harmful to public health, as it is a factor in the sub-optimal management of patients with neurological disorders.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"39 ","pages":"Article 100566"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143850439","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}

引用次数: 0

Erratum to “Cerebral syphilitic gumma mimicking a brain tumor that enlarged temporarily after commencing antibiotic treatment” [eNeurologicalSci 29 (2022) 100436] “开始抗生素治疗后暂时增大的模拟脑瘤的脑梅毒牙龈”的勘误[神经科学29 (2022)100436]

eNeurologicalSci Pub Date : 2025-04-08 DOI: 10.1016/j.ensci.2025.100564

Yoshiaki Takahashi , Nobutoshi Morimoto , Mizuki Morimoto , Shunsuke Mori , Yu Takahashi , Tomotsugu Ichikawa , Kyoko Yokota , Toru Yamashita

引用次数: 0

Area postrema syndrome as the only sign of medullary infarction adjacent to area postrema 残区综合征是残区附近髓质梗死的唯一征象

eNeurologicalSci Pub Date : 2025-03-14 DOI: 10.1016/j.ensci.2025.100563

Patrick Stancu , Nicolae Sanda , Karl-Olof Lovblad , Nils Guinand , Andreas Kleinschmidt , José Bernardo Escribano Paredes

{"title":"Area postrema syndrome as the only sign of medullary infarction adjacent to area postrema","authors":"Patrick Stancu , Nicolae Sanda , Karl-Olof Lovblad , Nils Guinand , Andreas Kleinschmidt , José Bernardo Escribano Paredes","doi":"10.1016/j.ensci.2025.100563","DOIUrl":"10.1016/j.ensci.2025.100563","url":null,"abstract":"<div><div>Area postrema syndrome (APS) is characterized by acute or subacute intractable nausea, vomiting, and/or hiccups lasting for at least 48 h. These symptoms can occur individually or in combination and are typically linked to periventricular brainstem lesions, particularly involving the area postrema (AP). The AP, a highly vascularized circumventricular organ located in the dorsal medulla oblongata, is supplied by the anterior spinal artery and perforating branches of the posterior inferior cerebellar artery (PICA), making it susceptible to pathological processes that can lead to APS. APS rarely occurs in stroke patients, but has been seen with ischemic lesions in the medial brachium pontis. The underlying pathophysiology of APS remains unclear, but remote lesions from the AP suggest involvement of an autonomic network of neuronal structures. This article reports a rare case of APS caused by ischemic stroke near the area postrema, without accompanying neurological impairments. The case highlights the importance of vascular investigation in intractable APS cases, even without focal neurological symptoms, and supports the role of neuronal structures connected to the AP in APS development.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"39 ","pages":"Article 100563"},"PeriodicalIF":0.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Corrigendum to “Oral minocycline therapy as first-line treatment in patients with Myalgic encephalomyelitis and long COVID: A pilot study” [eNeurologicalSci 38 (2025) 100537]. “口服二甲胺四环素作为肌痛性脑脊髓炎和长COVID患者的一线治疗：一项试点研究”[enneurologicalsci 38(2025) 100537]。

eNeurologicalSci Pub Date : 2025-03-01 DOI: 10.1016/j.ensci.2025.100557

Kunihisa Miwa

引用次数: 0

Erratum regarding missing consent statements in previously published articles 关于先前发表的文章中缺少同意声明的勘误

eNeurologicalSci Pub Date : 2025-03-01 DOI: 10.1016/j.ensci.2025.100556

引用次数: 0