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Assisted reproduction technology in multiple sclerosis. 辅助生殖技术在多发性硬化症中的应用。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-19 DOI: 10.1136/pn-2024-004459
Ger Mullan, Stella Hughes, David Rog, Peter Brex, Ruth Dobson
{"title":"Assisted reproduction technology in multiple sclerosis.","authors":"Ger Mullan, Stella Hughes, David Rog, Peter Brex, Ruth Dobson","doi":"10.1136/pn-2024-004459","DOIUrl":"https://doi.org/10.1136/pn-2024-004459","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013590","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
Stiff-person syndrome. 僵人综合征
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2023-003974
Smriti Bose, Saiju Jacob
{"title":"Stiff-person syndrome.","authors":"Smriti Bose, Saiju Jacob","doi":"10.1136/pn-2023-003974","DOIUrl":"10.1136/pn-2023-003974","url":null,"abstract":"<p><p>Stiff-person syndrome (SPS) is an autoimmune disease associated mainly with antibodies to glutamic acid decarboxylase (GAD) or to glycine, characterised by intermittent painful spasms, stiffness and rigidity of the proximal and truncal muscles. Neuro-ophthalmological and gastrointestinal symptoms also occur. The symptoms are caused by neuronal excitability due to impaired inhibitory (gamma amino butyric acid [GABA] and glycine) neurotransmission. SPS is part of a larger spectrum of GAD antibody-spectrum disorders, which overlaps with autoimmune epilepsy, cerebellar ataxia, myoclonus, progressive encephalomyelitis, rigidity and myoclonus (PERM) and limbic encephalitis. PERM is often caused by antibodies against the glycine receptor. Some SPS cases are paraneoplastic. Diagnostic delay is often associated with irreversible disability, and therefore, clinicians need a high degree of clinical suspicion to make an earlier diagnosis. This review updates the various clinical presentations that should raise suspicion of SPS and its related conditions and includes a diagnostic algorithm and various treatment strategies including immunotherapy and GABA-ergic drugs.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"6-17"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120802","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
Stroke as a career option for neurologists. 将脑卒中作为神经科医生的职业选择。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004111
Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring
{"title":"Stroke as a career option for neurologists.","authors":"Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring","doi":"10.1136/pn-2024-004111","DOIUrl":"10.1136/pn-2024-004111","url":null,"abstract":"<p><p>Stroke is one of the most common acute neurological disorders and a leading cause of disability worldwide. Evidence-based treatments over the last two decades have driven a revolution in the clinical management and design of stroke services. We need a highly skilled, multidisciplinary workforce that includes neurologists as core members to deliver modern stroke care. In the UK, the dedicated subspecialty training programme for stroke medicine has recently been integrated into the neurology curriculum. All neurologists will be trained to contribute to each aspect of the stroke care pathway. We discuss how training in stroke medicine is evolving for neurologists and the opportunities and challenges around practising stroke medicine in the UK and beyond.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"45-50"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141440944","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
Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis. 视网膜血管病伴脑白质脑病：中枢神经系统血管炎的罕见模拟病例。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004246
Andrew J Martin
{"title":"Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis.","authors":"Andrew J Martin","doi":"10.1136/pn-2024-004246","DOIUrl":"10.1136/pn-2024-004246","url":null,"abstract":"<p><p>Retinal vasculopathy with cerebral leukoencephalopathy is a rare autosomal dominant genetic disorder due to mutation in the <i>TREX1</i> gene and presents with both central nervous system (CNS) and other organ dysfunction. It is often misdiagnosed as demyelination or vasculitis based on imaging features, often with potentially harmful immunotherapy given unnecessarily. This report describes two sisters with progressive hemiparesis, retinal vasculopathy and hepatic dysfunction, one of whom was initially misdiagnosed and treated for cerebral vasculitis. Imaging showed extensive and asymmetric white matter lesions with persistent diffusion restriction and contrast enhancement. Extensive autoimmune and infectious investigations were unremarkable. Both patients had a novel heterozygous variant in the <i>TREX1</i> gene, giving a diagnosis of retinal vasculopathy with cerebral leukoencephalopathy. Clinicians should consider this condition in atypical presentations of suspected demyelination or CNS vasculitis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"66-69"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861187","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
ABN news. 荷兰银行的消息。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004485
Biba Stanton, Maya McCourt
{"title":"ABN news.","authors":"Biba Stanton, Maya McCourt","doi":"10.1136/pn-2024-004485","DOIUrl":"https://doi.org/10.1136/pn-2024-004485","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"25 1","pages":"98-99"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013592","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
Vestibular schwannoma causing normal pressure hydrocephalus. 前庭分裂瘤导致正常压力脑积水。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004240
Alexander Hayes, Mark Wilson, Anastassia Gontsarova, Christopher Carswell
{"title":"Vestibular schwannoma causing normal pressure hydrocephalus.","authors":"Alexander Hayes, Mark Wilson, Anastassia Gontsarova, Christopher Carswell","doi":"10.1136/pn-2024-004240","DOIUrl":"10.1136/pn-2024-004240","url":null,"abstract":"<p><p>Vestibular schwannoma is a common benign tumour that may cause local complications. However, vestibular schwannoma has a known association with communicating hydrocephalus presenting with symptoms of normal pressure hydrocephalus and requiring treatment by ventricular shunting or tumour resection. We report a 79-year-old woman who presented with subacute gait apraxia, cognitive impairment and urinary incontinence. CT and MR imaging identified a 20 mm vestibular schwannoma and communicating hydrocephalus; her cerebrospinal fluid (CSF) protein was elevated. Her symptoms improved following ventriculoperitoneal shunt insertion. The mechanism by which non-obstructing vestibular schwannoma causes hydrocephalus is unclear, but hyperproteinorrachia is probably important, likely by impeding CSF resorption.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"70-74"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037258","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
Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea. 齿侧苍白球萎缩：癫痫、共济失调和舞蹈症的罕见病因。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004213
Karthik Harisankar, Jagdeep Singh, Sahil Mehta, Vivek Lal
{"title":"Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.","authors":"Karthik Harisankar, Jagdeep Singh, Sahil Mehta, Vivek Lal","doi":"10.1136/pn-2024-004213","DOIUrl":"10.1136/pn-2024-004213","url":null,"abstract":"<p><p>A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"63-65"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564772","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
Reframing the clinical phenotype and management of cryptococcal meningitis. 重塑隐球菌脑膜炎的临床表型和管理。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004133
Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan
{"title":"Reframing the clinical phenotype and management of cryptococcal meningitis.","authors":"Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan","doi":"10.1136/pn-2024-004133","DOIUrl":"10.1136/pn-2024-004133","url":null,"abstract":"<p><p>Cryptococcal meningitis is an important global health problem, resulting from infection with the yeast <i>Cryptococcus</i>, especially <i>Cryptococcus neoformans</i> and <i>Cryptococcus gattii</i>, which cause a spectrum of disease ranging from pulmonary and skin lesions to life-threatening central nervous system involvement. The diagnosis and management of cryptococcal meningitis have substantially changed in recent years. Cryptococcal meningitis often occurs in people living with advanced HIV infection, though in high-income countries with robust HIV detection and treatment programmes, it increasingly occurs in other groups, notably solid-organ transplant recipients, other immunosuppressed patients and even immunocompetent hosts. This review outlines the clinical presentation, management and prognosis of cryptococcal meningitis, including its salient differences in people living with HIV compared with HIV-negative patients. We discuss the importance of managing raised intracranial pressure and highlight the advantages of improved multidisciplinary team working involving neurologists, infectious disease specialists and neurosurgeons.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"25-39"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601951","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
Bright ears on MRI: an imaging clue to relapsing polychondritis-associated encephalopathy. 磁共振成像上的亮耳：复发性多软骨炎相关脑病的影像学线索。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004320
Helen Devine, Priya Bhatnagar, Anne Chambers, David Ledingham, Clare Bolton, Gary Reynolds, Fiona Rayner, Timothy D Griffiths
{"title":"Bright ears on MRI: an imaging clue to relapsing polychondritis-associated encephalopathy.","authors":"Helen Devine, Priya Bhatnagar, Anne Chambers, David Ledingham, Clare Bolton, Gary Reynolds, Fiona Rayner, Timothy D Griffiths","doi":"10.1136/pn-2024-004320","DOIUrl":"10.1136/pn-2024-004320","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"84-86"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509912","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
Using disease-modifying treatments in multiple sclerosis: Association of British Neurologists (ABN) 2024 guidance. 在多发性硬化症中使用改变病情的治疗方法：英国神经病学家协会（ABN）2024指南。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004228
Waqar Rashid, Olga Ciccarelli, Siobhan M Leary, Tarunya Arun, Anisha Doshi, Nikos Evangelou, Helen L Ford, Jeremy Hobart, Saiju Jacob, Paolo Antonio Muraro, Katy Murray, Jacqueline Palace, Ruth Dobson
{"title":"Using disease-modifying treatments in multiple sclerosis: Association of British Neurologists (ABN) 2024 guidance.","authors":"Waqar Rashid, Olga Ciccarelli, Siobhan M Leary, Tarunya Arun, Anisha Doshi, Nikos Evangelou, Helen L Ford, Jeremy Hobart, Saiju Jacob, Paolo Antonio Muraro, Katy Murray, Jacqueline Palace, Ruth Dobson","doi":"10.1136/pn-2024-004228","DOIUrl":"10.1136/pn-2024-004228","url":null,"abstract":"<p><p>The Association of British Neurologists last published guidelines on disease-modifying treatment (DMT) in multiple sclerosis (MS) in 2015. Since then, additional DMTs have been licensed and approved for prescribing within the National Health Service for relapsing-remitting MS, early primary progressive MS and active secondary progressive MS. This updated guidance provides a consensus-based approach to using DMTs. We provide recommendations for eligibility, starting, monitoring, switching and stopping of DMTs; pregnancy; equitable access to DMT; autologous haemopoietic stem-cell transplantation; and use of generics. We highlight best practice where it exists and discuss future priorities.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"18-24"},"PeriodicalIF":2.4,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630151","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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