Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins
{"title":"Infratentorial superficial siderosis due to a spinal dural tear.","authors":"Sarah Katherine Morgan, Kuhilan Gounder, Constantine Phatouros, Tom Jenkins","doi":"10.1136/pn-2024-004382","DOIUrl":"10.1136/pn-2024-004382","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"278-280"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923596","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}
Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr
{"title":"Immunoglobulin use in neurology: a practical approach.","authors":"Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr","doi":"10.1136/pn-2022-003655","DOIUrl":"10.1136/pn-2022-003655","url":null,"abstract":"<p><p>Human immunoglobulin, delivered either intravenously (IVIg) or subcutaneously, is used to treat a range of immune-mediated neurological disorders. It has a role in acute or subacute inflammatory disease control and as a maintenance therapy in chronic disease management. This review considers mechanisms of IVIg action and the evidence for IVIg in neurological conditions. We use Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as frameworks to demonstrate an approach to IVIg use in acute and chronic dysimmune neurological conditions across two different healthcare systems: the UK and Australia. We highlight the benefits and limitations of IVIg and focus on practical considerations such as informed consent, managing risks and adverse effects, optimal dosing and monitoring response. We use these basic clinical practice principles to discuss the judicious use of an expensive and scarce blood product with international relevance.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"228-240"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890344","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}
Bernard Liem, Xin You Tai, Faye Begeti, Farheen Fazal Fathima, Monika Hofer, Lucy Matthews, Simon Rinaldi, David L H Bennett, Martin R Turner
{"title":"Beriberi following sleeve gastrectomy.","authors":"Bernard Liem, Xin You Tai, Faye Begeti, Farheen Fazal Fathima, Monika Hofer, Lucy Matthews, Simon Rinaldi, David L H Bennett, Martin R Turner","doi":"10.1136/pn-2024-004219","DOIUrl":"10.1136/pn-2024-004219","url":null,"abstract":"<p><p>Bariatric surgery is being undertaken more frequently in response to rising levels of obesity but is increasingly also requested as a cosmetic choice. Nutritional deficiencies are a recognised consequence of gastrectomy, with potentially severe and permanent neurological sequelae. We present two cases of acute, severe polyneuropathy following sleeve gastrectomy. Severe thiamine deficiency was considered in both cases but with delayed proof and a significant initial differential diagnosis. Neurologists must have a high index of suspicion for the peripheral as well as central presentations of thiamine deficiency to avoid permanent disability. We also call for explicit information resources warning of the risk and signs of thiamine deficiency to be provided routinely to patients after gastrectomy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"268-272"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767617","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}
Ruben Jauregui, Julia Greenberg, Philip Kuball, Dillan J Newbold, Riddhi Patel, Robert Staudinger
{"title":"Alexia without agraphia: from infarctions to malignancies.","authors":"Ruben Jauregui, Julia Greenberg, Philip Kuball, Dillan J Newbold, Riddhi Patel, Robert Staudinger","doi":"10.1136/pn-2024-004235","DOIUrl":"10.1136/pn-2024-004235","url":null,"abstract":"<p><p>Alexia without agraphia is a neurological syndrome characterised by an acquired inability to read with a preserved ability to write. It is caused by the combined effect of two lesions: in the splenium of the corpus callosum and in the occipital lobe of the dominant hemisphere. Splenial lesions disconnect the language areas in the temporal and parietal lobes of the dominant hemisphere from the visual areas in the occipital cortex of the contralateral side, while lesions in the dominant occipital lobe cause homonymous hemianopia. We describe two patients with lesions affecting the splenium and dominant occipital lobe, with different causes. Together, these cases highlight the importance of performing a thorough language evaluation in patients presenting with homonymous visual field deficits, as otherwise, clinicians may overlook impairments in writing (agraphia) or reading (alexia).</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"246-249"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308699","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}
Andrea Barp, Paola Tonin, Salvatore Stano, Gaetano Nicola Vattemi, Marta Cheli, Giulia Marchetto, Matteo De Iorio, Riccardo Zuccarino
{"title":"Neurogenic disease with high CK: think muscle.","authors":"Andrea Barp, Paola Tonin, Salvatore Stano, Gaetano Nicola Vattemi, Marta Cheli, Giulia Marchetto, Matteo De Iorio, Riccardo Zuccarino","doi":"10.1136/pn-2024-004401","DOIUrl":"10.1136/pn-2024-004401","url":null,"abstract":"<p><p>HyperCKaemia is common in several myopathies but can accompany other disorders, including neuropathies. However, distinguishing neurogenic from myopathic hyperCKaemia is not always straightforward. A 58-year-old man had experienced muscle cramps and fatiguability since aged 3 years, with persistently high serum creatine kinase (CK). A positive family history prompted genetic testing for Charcot-Marie-Tooth disease type 1A, which was positive. However, his serum CK remained persistently high and neurological examination 17 years later identified diffuse muscle atrophy and weakness. Genetic testing for dystrophinopathy identified a novel missense variant on the <i>DMD</i> gene. Patients whose serum CK is in 'myopathic range', even those with definite neurogenic disease, should be investigated for additional myopathy, since this may require additional monitoring for pulmonary and cardiac complications.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"264-267"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787371","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}
Zhongbo Chen, Huw R Morris, James Polke, Nicholas W Wood, Sonia Gandhi, Mina Ryten, Henry Houlden, Arianna Tucci
{"title":"Repeat expansion disorders.","authors":"Zhongbo Chen, Huw R Morris, James Polke, Nicholas W Wood, Sonia Gandhi, Mina Ryten, Henry Houlden, Arianna Tucci","doi":"10.1136/pn-2023-003938","DOIUrl":"10.1136/pn-2023-003938","url":null,"abstract":"<p><p>An increasing number of repeat expansion disorders have been found to cause both rare and common neurological disease. This is exemplified in recent discoveries of novel repeat expansions underlying a significant proportion of several late-onset neurodegenerative disorders, such as CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia syndrome) and spinocerebellar ataxia type 27B. Most of the 60 described repeat expansion disorders to date are associated with neurological disease, providing substantial challenges for diagnosis, but also opportunities for management in a clinical neurology setting. Commonalities in clinical presentation, overarching diagnostic features and similarities in the approach to genetic testing justify considering these disorders collectively based on their unifying causative mechanism. In this review, we discuss the characteristics and diagnostic challenges of repeat expansion disorders for the neurologist and provide examples to highlight their clinical heterogeneity. With the ready availability of clinical-grade whole-genome sequencing for molecular diagnosis, we discuss the current approaches to testing for repeat expansion disorders and application in clinical practice.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"204-216"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Editor's commentary.","authors":"Phil E M Smith, Geraint N Fuller","doi":"10.1136/pn-2025-004632","DOIUrl":"https://doi.org/10.1136/pn-2025-004632","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"25 3","pages":"199"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080027","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":"Hoover's sign is a sign of functional weakness: or is it more?","authors":"Jan Coebergh","doi":"10.1136/pn-2024-004385","DOIUrl":"10.1136/pn-2024-004385","url":null,"abstract":"<p><p>Hoover's sign has long been used to support a clinical diagnosis of functional weakness. However, it also occurs in people with pain, other functional disorders and functional neurological disorder without weakness. Some of its clinical characteristics, such as being more prominent with visual attention, suggest it might be reframed as a sign of agency. The experience, reflections and awareness of people with an abnormal Hoover's sign can be seen in this context. Reframing Hoover's sign by linking it to agency, and extending it to other clinical scenarios, could help clinicians and, most importantly, patients.A recently discovered clinical technique of inducing it briefly in healthy people with pressure on the patella or tonic vibration is discussed. This illustrates the importance of sensory processing (especially sensory attenuation and proprioception) and learning/habituation to stimuli, which is known to be altered in functional neurological disorder and other functional disorders.Reframing Hoover's sign by linking it to agency and extending it to other clinical scenarios could help clinicians, neuroscience and, most importantly, patients.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"260-261"},"PeriodicalIF":2.4,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411005","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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