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67-year-old man with involuntary movements and episodes of transient unresponsiveness. 67岁男性，有不自主运动和短暂无反应性发作。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-13 DOI: 10.1136/pn-2024-004483
Naqa'a Abbas Alzubaidi, Essam Al-Sibahee
{"title":"67-year-old man with involuntary movements and episodes of transient unresponsiveness.","authors":"Naqa'a Abbas Alzubaidi, Essam Al-Sibahee","doi":"10.1136/pn-2024-004483","DOIUrl":"https://doi.org/10.1136/pn-2024-004483","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004924","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
Uveitis.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-13 DOI: 10.1136/pn-2024-004451
Anamika Patel, Ruth Dobson, Harry Petrushkin
{"title":"Uveitis.","authors":"Anamika Patel, Ruth Dobson, Harry Petrushkin","doi":"10.1136/pn-2024-004451","DOIUrl":"https://doi.org/10.1136/pn-2024-004451","url":null,"abstract":"<p><p>This review offers comprehensive insights into the presenting features, terminology, imaging techniques and management strategies associated with uveitis, specifically designed to help neurologists understand this complex condition. We have created a glossary of terms used in uveitis care and ocular imaging to help clarify terminology. We have ordered uveitis subtypes in an intuitive manner, focusing on those that neurologists are more likely to encounter. We have written the article from the perspective of uveitis specialists practising in the UK, while emphasising the global variability in clinical presentations and causes. By offering practical guidance on recognising uveitis features as well as treatment options, we aim for this to be a neurologists' <i>aide mémoire</i> to help manage intraocular inflammation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028986","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
Diagnosing Alexander disease in adults. 成人亚历山大病的诊断。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-11 DOI: 10.1136/pn-2024-004490
David S Lynch, Charles Wade, Alise K Carlson, Frederik Barkhof, Tomokatsu Yoshida, Abigail Collins, Michael R Edwards, Amy T Waldman
{"title":"Diagnosing Alexander disease in adults.","authors":"David S Lynch, Charles Wade, Alise K Carlson, Frederik Barkhof, Tomokatsu Yoshida, Abigail Collins, Michael R Edwards, Amy T Waldman","doi":"10.1136/pn-2024-004490","DOIUrl":"https://doi.org/10.1136/pn-2024-004490","url":null,"abstract":"<p><p>Alexander disease is a rare, genetic and ultimately fatal neurological disorder that arises from pathogenic variants in the glial fibrillary acidic protein (<i>GFAP</i>) gene. Its presenting symptoms often differ according to age at onset. Although Alexander disease typically presents in young children with seizures and developmental delays, its presentation in adults may include bulbar signs, ataxia and autonomic dysfunction. Because of the heterogeneous and non-specific symptoms associated with adult-onset Alexander disease, the diagnosis typically requires comprehensive clinical and neuroimaging evaluation as well as confirmatory genetic testing. Here, we present detailed case descriptions of patients who first presented with symptoms of Alexander disease as adults, with guidance on recognising distinctive clinical and radiological characteristics associated with the later-onset form. Timely recognition and referral of patients with Alexander disease will enable earlier interventions that may mitigate disease severity or slow disease progression if such interventions become available.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020250","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
Improvement of functional paralysis following unexpected comatose states. 意外昏迷状态后功能性麻痹的改善。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-07 DOI: 10.1136/pn-2024-004510
Philomene Margit Klok, Marinus Vermeulen, Jon Stone, Bastiaan R Bloem
{"title":"Improvement of functional paralysis following unexpected comatose states.","authors":"Philomene Margit Klok, Marinus Vermeulen, Jon Stone, Bastiaan R Bloem","doi":"10.1136/pn-2024-004510","DOIUrl":"https://doi.org/10.1136/pn-2024-004510","url":null,"abstract":"<p><p>Instances of recovery from a functional neurological disorder (FND) can shine a light on the nature of the condition and its potential treatment. Unexpected recovery of FND symptoms can occur after a comatose state or an anaesthetic, or after various other scenarios. Two illustrative cases exemplify the phenomenon. A 59-year-old man had an 8-year history of functional paraparesis that had developed subacutely following a car crash. The paralysis recovered dramatically after an episode of medically induced coma, administered because of SARS-CoV-2 acute respiratory distress. A 40-year-old woman had complete recovery of FND-related arm paralysis and associated chronic pain after a deliberate overdose that led to a comatose state necessitating a brief period of ventilation. We compare these with similar recoveries in other scenarios, such as following hypnosis or extreme external stress. We discuss the potential mechanisms for recovery and the implications for FND treatment.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032958","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
Delayed diagnosis of congenital fibrosis of extraocular muscles type 1. 先天性1型眼外肌纤维化的延迟诊断。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-07 DOI: 10.1136/pn-2025-004582
Anca Loredana Alungulese, Irene Catalina Alvarez, Julia Suarez Gonzalez, Pascual Elvira Ruiz
{"title":"Delayed diagnosis of congenital fibrosis of extraocular muscles type 1.","authors":"Anca Loredana Alungulese, Irene Catalina Alvarez, Julia Suarez Gonzalez, Pascual Elvira Ruiz","doi":"10.1136/pn-2025-004582","DOIUrl":"https://doi.org/10.1136/pn-2025-004582","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052655","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
Myelopathic motor symptoms overlaying Parkinson's disease. 脊髓性运动症状覆盖帕金森病
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-05-02 DOI: 10.1136/pn-2025-004546
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":"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":"2025-05-02","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}
引用次数: 0
Hereditary geniospasm (chin tremor). 遗传性膝痉挛（下巴震颤）。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-24 DOI: 10.1136/pn-2025-004551
Saneeya Nasim, Sarah Davies, Benjamin R Wakerley
{"title":"Hereditary geniospasm (chin tremor).","authors":"Saneeya Nasim, Sarah Davies, Benjamin R Wakerley","doi":"10.1136/pn-2025-004551","DOIUrl":"https://doi.org/10.1136/pn-2025-004551","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037382","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
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. VEXAS（空泡，E1酶，x连锁，自身炎症，躯体）综合征。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-22 DOI: 10.1136/pn-2025-004530
Chethana Ramakrishna, Deepti Kapur, Jagdish Ramachandran Nair
{"title":"VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.","authors":"Chethana Ramakrishna, Deepti Kapur, Jagdish Ramachandran Nair","doi":"10.1136/pn-2025-004530","DOIUrl":"https://doi.org/10.1136/pn-2025-004530","url":null,"abstract":"<p><p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset autoinflammatory disorder caused by somatic mutations in the ubiquitin-attaching protein 1 (<i>UBA1</i>) gene. It primarily affects men aged over 50. We report a middle-aged man presenting with bilateral orbital inflammation, sixth nerve palsy, relapsing polychondritis, sensorineural hearing loss, possible vestibulopathy and a papulovesicular rash. He had macrocytic anaemia and elevated inflammatory markers, but normal autoimmune and infective screens. Imaging identified features of orbital pseudotumour. Genetic testing confirmed a <i>UBA1</i> p.Met41Thr mutation, confirming VEXAS syndrome. We gave intravenous methylprednisolone, then oral prednisolone and subsequently tocilizumab. This case highlights the multisystem presentation and rare neurological manifestations of VEXAS syndrome and emphasises the importance of genetic testing in its diagnosis. Current treatment options include corticosteroids, interleukin-6 inhibitors and Janus kinase inhibitors, with haematopoietic stem cell transplantation offering curative potential.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028991","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
Headache and progressive visual loss. 头痛和进行性视力丧失。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-22 DOI: 10.1136/pn-2025-004579
Neil Watson, Tom Moullaali, Ana Casado, Sean McAuley, James McDonald, Colin Smith, Ruth Dobson, Richard Davenport
{"title":"Headache and progressive visual loss.","authors":"Neil Watson, Tom Moullaali, Ana Casado, Sean McAuley, James McDonald, Colin Smith, Ruth Dobson, Richard Davenport","doi":"10.1136/pn-2025-004579","DOIUrl":"https://doi.org/10.1136/pn-2025-004579","url":null,"abstract":"<p><p>An 88-year-old woman developed persistent unilateral headache followed by bilateral sequential visual loss. She suffered progressive neurological deterioration before her death. This report documents the clinicopathological conference at the Association of British Neurologists Annual Meeting 2024.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990070","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
Precision terminology to reduce cognitive bias in neuro-ophthalmology. 精确术语以减少神经眼科学中的认知偏差。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-04-08 DOI: 10.1136/pn-2025-004560
Susan P Mollan
{"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}
引用次数: 0
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