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Adult-onset Rasmussen's encephalitis with anti-AMPA receptor antibodies. 成人发病的拉斯穆森脑炎伴抗ampa受体抗体。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-01 DOI: 10.1136/pn-2025-004520
Joshua Chin Ern Ooi, Lip Sheng Tan, Yun Xiu Yong, Maizatul Idazarina Mahadi, Yi Lin Tang, Jack Son Wee, Sheila Ai Mei Ong, Shirley Lee, Presaad Pillai, Yuen Kang Chia
{"title":"Adult-onset Rasmussen's encephalitis with anti-AMPA receptor antibodies.","authors":"Joshua Chin Ern Ooi, Lip Sheng Tan, Yun Xiu Yong, Maizatul Idazarina Mahadi, Yi Lin Tang, Jack Son Wee, Sheila Ai Mei Ong, Shirley Lee, Presaad Pillai, Yuen Kang Chia","doi":"10.1136/pn-2025-004520","DOIUrl":"https://doi.org/10.1136/pn-2025-004520","url":null,"abstract":"<p><p>A woman aged 49 years developed focal seizures, with right hemispheric focal slowing on electroencephalograph and right hemisphere focal cortical hyperintensities with subtle atrophy on MR brain scan. Cerebrospinal fluid identified anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor auto-antibodies, but her condition did not respond to immunotherapy for AMPA receptor encephalitis. Subsequent MR brain scan showed striking progressive unihemispheric atrophy, consistent with Rasmussen's encephalitis; she made a good functional recovery with cyclophosphamide. This case highlights the diagnostic and treatment challenges surrounding adult-onset Rasmussen's encephalitis. The unusual co-occurrence of anti-AMPA receptor autoantibody positivity emphasises the need for careful interpretation of such associations. It is important to think of Rasmussen's encephalitis as a spectrum of diseases with shared T-cell-mediated neuronal loss pathways but varying humoral components to understand this complex disease better.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765363","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
Neurological letter from Bhutan: Land of the Thunder Dragon. 来自不丹的神经学信函：雷龙之地。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-01 DOI: 10.1136/pn-2025-004561
Charles Coughlan, Guru Prasad Dhakal, Yangchen Yangchen
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引用次数: 0
Basal ganglia calcification: 'Fahr's disease'. 基底神经节钙化：Fahr病。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-01 DOI: 10.1136/pn-2024-004258
Francesca Magrinelli, Aaron Jesuthasan, Kailash P Bhatia, Amit Batla
{"title":"Basal ganglia calcification: 'Fahr's disease'.","authors":"Francesca Magrinelli, Aaron Jesuthasan, Kailash P Bhatia, Amit Batla","doi":"10.1136/pn-2024-004258","DOIUrl":"https://doi.org/10.1136/pn-2024-004258","url":null,"abstract":"<p><p>Brain calcification is often detected incidentally, but basal ganglia calcification has a wide differential diagnosis, including genetic and acquired causes. Primary familial brain calcification (PFBC) (formerly 'Fahr's disease') refers to neurological disorders characterised by bilateral, symmetrical deposition of calcium-hydroxyapatite crystals in the basal ganglia and other encephalic regions, with a presumed genetic basis. Its clinical picture encompasses motor, cognitive and psychiatric manifestations in various combinations. Seven genes have been linked to PFBC since 2012, with either autosomal dominant (<i>SLC20A2</i>, <i>PDGFRB</i>, <i>PDGFB</i> and <i>XPR1</i>) or recessive (<i>MYORG</i>, <i>JAM2</i> and <i>NAA60</i>) mode of inheritance. Mendelian gene discovery has provided critical insights into the pathogenesis of PFBC. Dyshomeostasis of inorganic phosphate, impaired endothelial functions and disrupted blood-brain barrier integrity has been identified as converging pathomechanisms, which could highlight the targets of potential disease-modifying treatments. We provide a state-of-the-art overview on phenotypic features, diagnosis, aetiopathogenesis and management of PFBC.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765365","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
Headaches, blackouts and unsteadiness in a 53-year-old man. 一名 53 岁的男子出现头痛、昏厥和站立不稳。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-28 DOI: 10.1136/pn-2024-004395
Bryan Ceronie, Movin Abeywickrema, Hans R Jäger, Peter L Chiodini, Gauri Godbole, Laura Nabarro, Geraldine O'Hara, Hadi Manji
{"title":"Headaches, blackouts and unsteadiness in a 53-year-old man.","authors":"Bryan Ceronie, Movin Abeywickrema, Hans R Jäger, Peter L Chiodini, Gauri Godbole, Laura Nabarro, Geraldine O'Hara, Hadi Manji","doi":"10.1136/pn-2024-004395","DOIUrl":"https://doi.org/10.1136/pn-2024-004395","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743980","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
Neurological marginalia: purposes and practicalities. 神经边缘：目的和实用性。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-26 DOI: 10.1136/pn-2025-004583
Andrew J Larner
{"title":"Neurological marginalia: purposes and practicalities.","authors":"Andrew J Larner","doi":"10.1136/pn-2025-004583","DOIUrl":"https://doi.org/10.1136/pn-2025-004583","url":null,"abstract":"<p><p>Marginalia, or apostils, are defined as notes, comments or other markings made in the margins of a book or document. As a reader who has habitually added markings and comments to such documents over many years, I offer some thoughts on the purposes of marginalia added to neurological texts. I also include some practical recommendations on how readers might construct marginalia. Rather than merely personalising a text, marginalia may have the capacity to foster systematic reading and critical thinking and may facilitate the process of writing.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732352","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
Tuberculous optochiasmatic arachnoiditis. 结核性视交叉蛛网膜炎。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-26 DOI: 10.1136/pn-2024-004452
Paba Atapattu, Thashi Chang
{"title":"Tuberculous optochiasmatic arachnoiditis.","authors":"Paba Atapattu, Thashi Chang","doi":"10.1136/pn-2024-004452","DOIUrl":"https://doi.org/10.1136/pn-2024-004452","url":null,"abstract":"<p><p>A 24-year-old woman developed multiple cerebral tuberculomas during treatment for central nervous system tuberculosis, requiring a protracted course of antituberculous therapy. Four years later, while on a second course of antituberculous therapy for relapsed disease, she developed deteriorating vision and further cerebral tuberculomas with inflammation; this was attributed to optochiasmatic arachnoiditis. She was treated at different stage with intravenous corticosteroids, second-line antituberculous therapy, infliximab and thalidomide. Her visual deficits initially improved but subsequently deteriorated despite escalating the anti-inflammatory medication. She died following severe sepsis. Optochiasmatic arachnoiditis threatens to cause irreversible complete blindness, but its best treatment is uncertain with no controlled trial data. We discuss the challenges of treating paradoxical reactions to antituberculous therapy and of treating optochiasmatic arachnoiditis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732357","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
Minor head trauma precipitating acute syndromes in neurogenetic disease. 神经遗传疾病中轻微头部创伤引发急性综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-22 DOI: 10.1136/pn-2024-004457
Rhys Davies
{"title":"Minor head trauma precipitating acute syndromes in neurogenetic disease.","authors":"Rhys Davies","doi":"10.1136/pn-2024-004457","DOIUrl":"https://doi.org/10.1136/pn-2024-004457","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693779","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
Catastrophic antiphospholipid antibody syndrome provoked by eltrombopag. 电曲巴格引起的灾难性抗磷脂抗体综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-22 DOI: 10.1136/pn-2025-004512
Bhargav Chandan Sumanth T, Aditya Vijayakrishnan Nair, Angel Miraclin T, George Abraham Ninan, Brunda K, Leena Rv, Harshad Arvind Vanjare, Joshi Nutan Damodar, Yamuna Naik, Appaswamy Thirumal Prabhakar, Ajith Sivadasan, Vivek Mathew, Sanjith Aaron
{"title":"Catastrophic antiphospholipid antibody syndrome provoked by eltrombopag.","authors":"Bhargav Chandan Sumanth T, Aditya Vijayakrishnan Nair, Angel Miraclin T, George Abraham Ninan, Brunda K, Leena Rv, Harshad Arvind Vanjare, Joshi Nutan Damodar, Yamuna Naik, Appaswamy Thirumal Prabhakar, Ajith Sivadasan, Vivek Mathew, Sanjith Aaron","doi":"10.1136/pn-2025-004512","DOIUrl":"https://doi.org/10.1136/pn-2025-004512","url":null,"abstract":"<p><p>Antiphospholipid antibody syndrome (APS) may rarely present with isolated thrombocytopenia that may be diagnosed and treated as immune thrombocytopenic purpura. A 32-year-old woman was given eltrombopag (a thrombopoietin receptor agonist) to treat presumed immune thrombocytopenic purpura. She developed catastrophic APS, with multiple ischaemic infarcts, microvascular coronary thrombosis and digital gangrene. She improved after stopping eltrombopag and starting immunotherapy (corticosteroids, intravenous immunoglobulin and rituximab) but was left with significant neurological morbidity.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693776","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
Visual allesthesia as manifestation of migraine aura. 视觉过敏是偏头痛先兆的表现。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-14 DOI: 10.1136/pn-2024-004381
Márcio Pinheiro Lima, José Luiz Pedroso, Orlando G P Barsottini, Flavio Moura Rezende Filho
{"title":"Visual allesthesia as manifestation of migraine aura.","authors":"Márcio Pinheiro Lima, José Luiz Pedroso, Orlando G P Barsottini, Flavio Moura Rezende Filho","doi":"10.1136/pn-2024-004381","DOIUrl":"10.1136/pn-2024-004381","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"174-175"},"PeriodicalIF":2.4,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773231","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
Cavernous sinus thrombosis: then and now. 海绵窦血栓形成：过去和现在。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-14 DOI: 10.1136/pn-2024-004396
Christopher Y Itoh, Eelco F M Wijdicks
{"title":"Cavernous sinus thrombosis: then and now.","authors":"Christopher Y Itoh, Eelco F M Wijdicks","doi":"10.1136/pn-2024-004396","DOIUrl":"10.1136/pn-2024-004396","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"176-177"},"PeriodicalIF":2.4,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883174","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
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