{"title":"Precision terminology to reduce cognitive bias in neuro-ophthalmology.","authors":"Susan P Mollan","doi":"10.1136/pn-2025-004560","DOIUrl":"https://doi.org/10.1136/pn-2025-004560","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812640","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}
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}
Charles Coughlan, Guru Prasad Dhakal, Yangchen Yangchen
{"title":"Neurological letter from Bhutan: Land of the Thunder Dragon.","authors":"Charles Coughlan, Guru Prasad Dhakal, Yangchen Yangchen","doi":"10.1136/pn-2025-004561","DOIUrl":"https://doi.org/10.1136/pn-2025-004561","url":null,"abstract":"","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":"143765367","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}
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}
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}
James Groves, Demot H Mallon, Anouk Borg, Nathalie Zaidman, Thomas Foltynie, Patricia Limousin, Arpan R Mehta, L V Prasad Korlipara
{"title":"Myelopathic motor symptoms overlaying Parkinson's disease.","authors":"James Groves, Demot H Mallon, Anouk Borg, Nathalie Zaidman, Thomas Foltynie, Patricia Limousin, Arpan R Mehta, L V Prasad Korlipara","doi":"10.1136/pn-2025-004546","DOIUrl":"https://doi.org/10.1136/pn-2025-004546","url":null,"abstract":"<p><p>Parkinson's disease (PD) may increase the risk of degenerative cervical myelopathy, causing overlaying myelopathic motor symptoms that can be challenging to identify. However, this diagnosis must not be missed, given the risk of profound and lasting disability and the benefit of surgical intervention. We describe a fortnight in which three patients with PD were admitted to our inpatient movement disorders service with degenerative cervical myelopathy; each highlighting a distinct learning point regarding diagnosis or management. First, that careful examination is crucial, and clinicians should always consider degenerative cervical myelopathy in a patient with PD whose mobility has dramatically reduced. Second, patients may need pharmacological suppression of cervical dyskinesias after surgery to prevent ongoing injury and to promote healing. Third, medical factors, such as B12 deficiency, with the potential to exacerbate myelopathic effects, should be corrected.</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":"143732344","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":"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}
{"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}
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