发布求助
文献互助 智能选刊 最新文献

PRACTICAL NEUROLOGY最新文献

筛选
英文 中文
Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1136/pn-2024-004506
Moiz Mikail, Matthew Gladman
{"title":"Late-onset Pompe disease mimicking oculopharyngeal muscular dystrophy.","authors":"Moiz Mikail, Matthew Gladman","doi":"10.1136/pn-2024-004506","DOIUrl":"https://doi.org/10.1136/pn-2024-004506","url":null,"abstract":"<p><p>Pompe disease is a genetic condition that results in glycogen accumulation in tissues, presenting from early infancy to late adulthood with various neurological and non-neurological features. We describe a woman in her late 70s with a slowly progressive onset (over years) of ptosis, oropharyngeal dysphagia and dysarthria, who was found to have late-onset Pompe disease. This case illustrates an atypical phenotype of late-onset Pompe disease that closely mimicked oculopharyngeal muscular dystrophy. Pompe disease is relatively easily identified using dried blood spot testing as a screening test. Enzyme replacement therapy for Pompe disease has increased the importance of its timely diagnosis, and recognising the variability in its presentation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543835","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
Classification of the epilepsies: evolving with time, science and knowledge.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-23 DOI: 10.1136/pn-2024-004486
Arjune Sen, Sameer M Zuberi
{"title":"Classification of the epilepsies: evolving with time, science and knowledge.","authors":"Arjune Sen, Sameer M Zuberi","doi":"10.1136/pn-2024-004486","DOIUrl":"https://doi.org/10.1136/pn-2024-004486","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484314","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
Health anxiety in a neurological setting.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-20 DOI: 10.1136/pn-2024-004293
Huw Green, Jon Stone
{"title":"Health anxiety in a neurological setting.","authors":"Huw Green, Jon Stone","doi":"10.1136/pn-2024-004293","DOIUrl":"https://doi.org/10.1136/pn-2024-004293","url":null,"abstract":"<p><p>Health anxiety is a common issue in neurology clinics. However, it needs to be separated from normal health concerns as well as from the category of functional symptoms and disorders. Reassurance in health anxiety, which the patient often seeks, is ineffective and can worsen the problem. There are effective and brief psychological treatments; however, for patients to engage with treatment, they need to receive accurate early diagnosis and education. This article explains the nature of health anxiety and introduces the rationale of its treatment. We make several practical suggestions to help neurologists to maximise the chances of successfully referring their patients for psychological therapy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469527","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
Paraneoplastic KLHL11 encephalitis presenting with progressive tinnitus, hearing loss and ataxia. 伴有进行性耳鸣、听力损失和共济失调的副肿瘤性KLHL11脑炎。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-20 DOI: 10.1136/pn-2024-004498
Azza Mahmoud, Divyanshu Dubey, Ajith Goonetilleke, Gina Lee, Suzi Elhabet, Iftikhar Ahmad, Mohammad Dogar, Anu Jacob
{"title":"Paraneoplastic KLHL11 encephalitis presenting with progressive tinnitus, hearing loss and ataxia.","authors":"Azza Mahmoud, Divyanshu Dubey, Ajith Goonetilleke, Gina Lee, Suzi Elhabet, Iftikhar Ahmad, Mohammad Dogar, Anu Jacob","doi":"10.1136/pn-2024-004498","DOIUrl":"https://doi.org/10.1136/pn-2024-004498","url":null,"abstract":"<p><p>Limbic encephalitis is associated with various tumours and antibodies. We describe a 33-year-old man with progressive cochleovestibular symptoms, cerebellar ataxia, myoclonus and antibodies against Kelch-like protein 11 (KLHL11). MR scan of the brain showed hippocampal T2 hyperintensities. FDG PET scan was normal. Biopsy of his enlarged left testes showed fibrosis without neoplasia. Immunotherapy so far has not helped significantly.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469531","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
Clarithromycin-induced myoclonic status epilepticus.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-20 DOI: 10.1136/pn-2024-004464
Mahmut Sami Biçimveren
{"title":"Clarithromycin-induced myoclonic status epilepticus.","authors":"Mahmut Sami Biçimveren","doi":"10.1136/pn-2024-004464","DOIUrl":"https://doi.org/10.1136/pn-2024-004464","url":null,"abstract":"<p><p>Myoclonus is a sudden brief involuntary activity and is either epileptic or non-epileptic. Myoclonic seizures are common in juvenile myoclonic epilepsy and in the much rarer childhood epilepsies, such as Dravet syndrome and Doose syndrome. However, they also occur at any age in adults. Myoclonic seizures may occur in cortical stroke, Alzheimer's disease, Lance-Adams syndrome, autoimmune limbic encephalitis and toxic-metabolic disorders. Clarithromycin may also cause myoclonic status epilepticus. We report a patient with myoclonic status epilepticus induced by clarithromycin.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469461","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
Para-infective opsoclonus-myoclonus syndrome due to malaria in a returning traveller.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-18 DOI: 10.1136/pn-2025-004514
Hmmtb Herath, Tsneem H S Mbydeen, Kask Karunanayaka, Sunil Wimalaratna
{"title":"Para-infective opsoclonus-myoclonus syndrome due to malaria in a returning traveller.","authors":"Hmmtb Herath, Tsneem H S Mbydeen, Kask Karunanayaka, Sunil Wimalaratna","doi":"10.1136/pn-2025-004514","DOIUrl":"https://doi.org/10.1136/pn-2025-004514","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450594","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
Multiple autoimmunity: neuromyelitis optica spectrum disorder with Lambert-Eaton myasthenic syndrome.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-18 DOI: 10.1136/pn-2024-004446
Isobel Sarah Platt, Albert Joseph, Vasiliki Tsirka, Nazia Raja, Maria Garcia, Jacqueline Palace, Ruth Dobson
{"title":"Multiple autoimmunity: neuromyelitis optica spectrum disorder with Lambert-Eaton myasthenic syndrome.","authors":"Isobel Sarah Platt, Albert Joseph, Vasiliki Tsirka, Nazia Raja, Maria Garcia, Jacqueline Palace, Ruth Dobson","doi":"10.1136/pn-2024-004446","DOIUrl":"https://doi.org/10.1136/pn-2024-004446","url":null,"abstract":"<p><p>A 56-year-old woman with a background of neuromyelitis optica spectrum disorder associated with aquaporin-4 antibodies (AQ4-NMOSD) treated with azathioprine, presented with a 2-month history of declining mobility, weight loss and hoarse voice. She had a history of autoimmune thyrotoxicosis and treated hypertension. Given her smoking history, the initial clinical concern was of malignancy. Neurophysiological examination identified severely attenuated responses from the upper and lower limb motor units, with significant neurophysiological incrementation postexercise, indicating a presynaptic neuromuscular junction disorder. Antibody testing showed markedly raised antibodies to the p/q subtype voltage-gated calcium channels, and she was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS). She was treated with 3,4-diaminopyridine and rituximab to maintain remission. Follow-up serial fluorodeoxyglucose positron emission tomography (FDG-PET) CT scans have yet to identify an underlying malignancy. LEMS is associated with additional autoimmune diseases in about half of cases. This case illustrates the importance of recognising other treatable autoimmune conditions in the context of NMOSD.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450591","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
Personal health records: a practical guide for neurologists.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-17 DOI: 10.1136/pn-2024-004443
Elena Purcaru, Jude Kings, Mavis Ayer, Christopher Kipps, Ashwin Arnold Pinto
{"title":"Personal health records: a practical guide for neurologists.","authors":"Elena Purcaru, Jude Kings, Mavis Ayer, Christopher Kipps, Ashwin Arnold Pinto","doi":"10.1136/pn-2024-004443","DOIUrl":"https://doi.org/10.1136/pn-2024-004443","url":null,"abstract":"<p><p>Digital tools like smartphone applications and wearable health devices support people to play a greater role in their own care and that of others. Personal health records (PHRs) allow users to store information about their health online, to view records held by healthcare services and to add their own information. PHRs have the potential to help people manage their well-being, improve patient care and provide new ways to offer care. This article describes the benefits that PHRs bring to healthcare, their challenges and the practical steps for establishing a PHR platform to connect neurologists with their patients, based on 4 years of PHR experience in our neurology unit.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442436","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
Serum creatine kinase: requesting and interpreting results.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-17 DOI: 10.1136/pn-2024-004422
Jon Walters, Gaafar Gailani
{"title":"Serum creatine kinase: requesting and interpreting results.","authors":"Jon Walters, Gaafar Gailani","doi":"10.1136/pn-2024-004422","DOIUrl":"https://doi.org/10.1136/pn-2024-004422","url":null,"abstract":"<p><p>Creatine kinase is an intracellular enzyme found abundantly in skeletal muscle, myocardium and brain. It is well known as a biomarker that increases following skeletal muscle damage and doctors instinctively associate it with myopathies. Serum creatine kinase is undoubtedly often raised in many myopathies and the extent of increase may provide a clue to the myopathic culprit. However, in other myopathies, it may be normal or only marginally raised, and rarely it is normal when the underlying pathology suggests that it should be very raised. Creatine kinase can also be raised in neurogenic disorders, and it can help in the investigation of some neurological disorders that are unrelated to neuromuscular disease. Finally, it may be discovered to be mysteriously elevated without a clear clinical correlate. Here, we examine each of these conundrums, beginning with the clinical problem at hand.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442437","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
Convexity subarachnoid haemorrhage from a cerebral dural arteriovenous fistula presenting with low back pain.
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-02-17 DOI: 10.1136/pn-2024-004339
Jasmin Chau Minh Le, Jeng Swen Ng, Stephen Bacchi, Michael J Waters, Thomas Kimber
{"title":"Convexity subarachnoid haemorrhage from a cerebral dural arteriovenous fistula presenting with low back pain.","authors":"Jasmin Chau Minh Le, Jeng Swen Ng, Stephen Bacchi, Michael J Waters, Thomas Kimber","doi":"10.1136/pn-2024-004339","DOIUrl":"https://doi.org/10.1136/pn-2024-004339","url":null,"abstract":"<p><p>Convexity subarachnoid haemorrhage (SAH) has many possible causes. A 76-year-old man presented with back pain, left leg weakness, and hypertension. His brain imaging showed convexity SAH, with additional intraventricular blood and extensive spinal SAH from T3-S2. Following deterioration from a probable further haemorrhage, with development of left foot myoclonus, a spinal digital subtraction angiogram was normal but cerebral angiogram identified a cerebral dural arteriovenous fistula, which was successfully embolised. Convexity SAH has a heterogeneous clinical presentation and dural arteriovenous fistula is a potential cause.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442435","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
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信