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
Bilateral facial palsy due to Melkersson-Rosenthal syndrome. Melkersson-Rosenthal综合征引起的双侧面瘫。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-09-20 DOI: 10.1136/pn-2025-004952
Paul Robert Campbell, Christopher Kobylecki, Nazar Sharaf
{"title":"Bilateral facial palsy due to Melkersson-Rosenthal syndrome.","authors":"Paul Robert Campbell, Christopher Kobylecki, Nazar Sharaf","doi":"10.1136/pn-2025-004952","DOIUrl":"10.1136/pn-2025-004952","url":null,"abstract":"<p><p>A 29-year-old woman developed bilateral facial nerve palsy for which no cause could be identified despite neuroimaging, lumbar puncture, viral serology and blood testing. Neuroinflammatory and dermatology input was sought. The patient later presented with a new manifestation of upper lip swelling, leading to a clinical diagnosis of Melkersson-Rosenthal syndrome. The diagnosis of this neuromucocutaneous disorder is challenging, with the classical triad of signs-facial nerve palsy, orofacial oedema, lingua plicata-often not presenting together. Suspecting the condition in oligosymptomatic presentations could reduce the delay in diagnosis, thereby facilitating earlier consideration for corticosteroid or immunosuppressive treatment and involvement of dermatology as appropriate.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"472-474"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145655730","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
Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function. 关节挛缩作为一种神经肌肉表型：来自PIEZO2功能丧失的教训。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-09-20 DOI: 10.1136/pn-2025-004946
Daniel Delgado Seneor, Patrícia Marques Mendes, Fernando Augustus De Paula Barreto Garcia, Eduardo Mendonça Werneck da Silva, Igor Braga Farias, João Paulo Barile, Renan Brandão Rambaldi Cavalheiro, Paulo de Lima Serrano, Wladimir B V R Pinto, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza
{"title":"Arthrogryposis as a neuromuscular phenotype: lessons from <i>PIEZO2</i> loss-of-function.","authors":"Daniel Delgado Seneor, Patrícia Marques Mendes, Fernando Augustus De Paula Barreto Garcia, Eduardo Mendonça Werneck da Silva, Igor Braga Farias, João Paulo Barile, Renan Brandão Rambaldi Cavalheiro, Paulo de Lima Serrano, Wladimir B V R Pinto, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza","doi":"10.1136/pn-2025-004946","DOIUrl":"10.1136/pn-2025-004946","url":null,"abstract":"<p><p>Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterised by multiple joint contractures resulting from impaired fetal movement. A 43-year-old woman presented with a long-standing congenital clubfoot, progressive scoliosis since childhood and distal joint contractures. She had pure sensory findings, with global areflexia, severe sensory ataxia and a positive Romberg sign, significantly affecting her balance and gait. Genetic analysis identified two likely pathogenic variants in the <i>PIEZO2</i> gene, consistent with an autosomal recessive inheritance pattern. We discuss the differential diagnosis of arthrogryposis multiplex congenita, emphasising the importance of considering neuromuscular causes. This case highlights the role of comprehensive neurological assessment in patients with distal joint contractures and scoliosis, showing that detailed peripheral neurological findings can guide genetic testing and lead to an accurate diagnosis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"491-494"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913158","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
Crocodile tear syndrome: to eat and cry for more. 鳄鱼泪综合征：吃了又哭。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-09-20 DOI: 10.1136/pn-2025-005038
Inês Carmo E Pinto, Bárbara Alves Rodrigues, Bruna Meira
{"title":"Crocodile tear syndrome: to eat and cry for more.","authors":"Inês Carmo E Pinto, Bárbara Alves Rodrigues, Bruna Meira","doi":"10.1136/pn-2025-005038","DOIUrl":"10.1136/pn-2025-005038","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"497-498"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146012911","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
The 2024 McDonald criteria for the diagnosis of multiple sclerosis: implications for clinical practice. 2024年多发性硬化症麦克唐纳诊断标准：对临床实践的影响
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-09-20 DOI: 10.1136/pn-2025-004938
Tarunya Arun, Kate Petheram, Tasanee Braithwaite, Wallace J Brownlee, Helen L Ford, Paul Gallagher, Stella Hughes, Jacqueline Palace, Claire M Rice, S Anand Trip, Nikos Evangelou
{"title":"The 2024 McDonald criteria for the diagnosis of multiple sclerosis: implications for clinical practice.","authors":"Tarunya Arun, Kate Petheram, Tasanee Braithwaite, Wallace J Brownlee, Helen L Ford, Paul Gallagher, Stella Hughes, Jacqueline Palace, Claire M Rice, S Anand Trip, Nikos Evangelou","doi":"10.1136/pn-2025-004938","DOIUrl":"10.1136/pn-2025-004938","url":null,"abstract":"<p><p>The 2024 revisions to the McDonald criteria mark a major shift in the diagnosis of multiple sclerosis (MS), reflecting advances in imaging and biomarker science. The updated framework adopts a more biologically anchored approach, integrating radiological and cerebrospinal fluid evidence to enable earlier and more accurate diagnosis. Key changes include recognition of the optic nerve as a fifth anatomical site for dissemination in space, incorporation of advanced MR imaging markers such as the central vein sign and paramagnetic rim lesions to improve specificity, and acceptance of the kappa free light chain index as a quantitative alternative to oligoclonal bands. In selected patients with highly characteristic clinical and imaging features, MS may now be diagnosed without demonstration of dissemination in time, reducing diagnostic delay. A unified pathway across relapsing and progressive phenotypes, including children, promotes consistency, while defined pathways also allow diagnosis in certain asymptomatic individuals, including those with radiologically isolated syndrome, when supported by biomarkers. Implementation will require access to advanced imaging, standardised laboratory testing, multidisciplinary expertise and careful clinical judgement to minimise misdiagnosis and ensure equitable access.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"440-448"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148017851","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
Spinal dural arteriovenous fistula missed on 1.5 T MRI: the value of dedicated spinal vascular imaging. 1.5 T MRI未见硬脊膜动静脉瘘：脊髓血管专用显像的价值。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-31 DOI: 10.1136/pn-2026-005338
Toni Saad, Amna Farooq, Sam Nightingale, Tarig Abkur
{"title":"Spinal dural arteriovenous fistula missed on 1.5 T MRI: the value of dedicated spinal vascular imaging.","authors":"Toni Saad, Amna Farooq, Sam Nightingale, Tarig Abkur","doi":"10.1136/pn-2026-005338","DOIUrl":"https://doi.org/10.1136/pn-2026-005338","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148867274","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
Generalised tetanus: the San Lazaro Hospital experience. 全身性破伤风：圣拉扎罗医院的经验。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-31 DOI: 10.1136/pn-2026-005390
Charles Coughlan, Su Myat Han, Johann Christine Santos, Arpan R Mehta, Christopher Smith, Ana Ria Sayo
{"title":"Generalised tetanus: the San Lazaro Hospital experience.","authors":"Charles Coughlan, Su Myat Han, Johann Christine Santos, Arpan R Mehta, Christopher Smith, Ana Ria Sayo","doi":"10.1136/pn-2026-005390","DOIUrl":"https://doi.org/10.1136/pn-2026-005390","url":null,"abstract":"<p><p>Tetanus is a devastating toxin-mediated neurological disease that continues to exact high mortality in resource-constrained settings despite an effective and inexpensive vaccine. With just 10 cases diagnosed in the UK each year, few neurologists will encounter the condition over the course of their career. Nonetheless, a working knowledge of its clinical features, staging and management remains important, given the positive clinical outcomes that can be achieved through prompt recognition and aggressive treatment, even in older, comorbid patients. Here, we describe two cases of generalised tetanus in adults presenting to the apex hospital for infectious diseases in Metro Manila, the Philippines, and outline practical steps for clinical management.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148867280","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
Memory and the Brain by John P. Aggleton. 约翰·阿格尔顿的《记忆与大脑》。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-28 DOI: 10.1136/pn-2026-005449
Katie Smith, Phil Smith
{"title":"<i>Memory and the Brain</i> by John P. Aggleton.","authors":"Katie Smith, Phil Smith","doi":"10.1136/pn-2026-005449","DOIUrl":"https://doi.org/10.1136/pn-2026-005449","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851548","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
Primary diffuse leptomeningeal melanomatosis presenting as chronic meningitis and dense spinal plaques. 原发性弥漫性小脑膜黑色素瘤病，表现为慢性脑膜炎和密集的脊髓斑块。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-18 DOI: 10.1136/pn-2026-005238
Lauren Baldwin, Hadleigh Cuthbert, Satheesh Ramalingham, Lalit Pallan, Stephen Metcalfe, Tom Hayton
{"title":"Primary diffuse leptomeningeal melanomatosis presenting as chronic meningitis and dense spinal plaques.","authors":"Lauren Baldwin, Hadleigh Cuthbert, Satheesh Ramalingham, Lalit Pallan, Stephen Metcalfe, Tom Hayton","doi":"10.1136/pn-2026-005238","DOIUrl":"https://doi.org/10.1136/pn-2026-005238","url":null,"abstract":"<p><p>Primary diffuse leptomeningeal melanomatosis (PDLM) is an exceptionally rare and aggressive central nervous system melanocytic tumour, often masquerading as inflammatory or infective leptomeningeal disease. A woman in her early 60s presented with hydrocephalus and diffuse leptomeningeal enhancement, initially treated as neurosarcoidosis. This progressed, despite immunosuppression, and repeated lumbar punctures yielded no cerebrospinal fluid (CSF) ('dry taps'). Intradural biopsy identified a melanocytic neoplasm with a <i>GNA11</i> mutation. Fewer than 25 cases of isolated PDLM have been reported, and misdiagnosis is common. MRI typically shows T1-hyperintense leptomeningeal lesions but CSF is often non-diagnostic. Repeated failure to obtain CSF is a potential clinical clue to extensive leptomeningeal tumour infiltration. PDLM should be considered in atypical, treatment-refractory leptomeningeal disease. Recognising its characteristic imaging features and obtaining early biopsy are important to avoiding diagnostic delay.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799145","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
MRI diagnosis of an isolated encephalopathy. 孤立性脑病的MRI诊断。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-13 DOI: 10.1136/pn-2026-005335
Nilshan Fernando, Daniel Ong, Yogesh Sharma
{"title":"MRI diagnosis of an isolated encephalopathy.","authors":"Nilshan Fernando, Daniel Ong, Yogesh Sharma","doi":"10.1136/pn-2026-005335","DOIUrl":"https://doi.org/10.1136/pn-2026-005335","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760756","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
Personality disorders: what the neurologist should know. 人格障碍：神经科医生应该知道的。
IF 2.5
PRACTICAL NEUROLOGY Pub Date : 2026-08-13 DOI: 10.1136/pn-2026-005213
Lily Farakish, Alfia Arun, Carmen Browne, Tashi Thornley, Dan W Joyce, Gashirai K Mbizvo
{"title":"Personality disorders: what the neurologist should know.","authors":"Lily Farakish, Alfia Arun, Carmen Browne, Tashi Thornley, Dan W Joyce, Gashirai K Mbizvo","doi":"10.1136/pn-2026-005213","DOIUrl":"https://doi.org/10.1136/pn-2026-005213","url":null,"abstract":"<p><p>Personality traits and disorders are frequently encountered in outpatient neurology. This can significantly influence the clinical consultation and the patient's neurological presentation and management. We offer practical guidance for neurologists to understand personality-related presentations better, along with clinical pointers to distinguish lifelong traits from changes secondary to neurological disease and advice on managing structured consultations with empathy. Recognising this interplay between personality and neurological care will support neurologists to deliver targeted, compassionate and higher quality care, improving patient engagement, safety and overall therapeutic experience.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762100","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：604180095
Book学术官方微信
小红书