{"title":"Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement.","authors":"Sarah Bernsen, Patrick Weydt","doi":"10.1136/pn-2025-004950","DOIUrl":"10.1136/pn-2025-004950","url":null,"abstract":"<p><p>A 76-year-old man developed progressive motor weakness, bulbar symptoms and hand muscle atrophy, initially suspected to be due to motor neurone disease. Unexpected findings on cardiological evaluation identified amyloidosis, and genetic testing confirmed the <i>TTR</i> p.Val50Met mutation, indicating late-onset hereditary transthyretin amyloidosis with a mixed neuropathic and cardiac phenotype. The diagnosis was delayed and complicated by minimal sensory symptoms and the atypical presentation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"506-509"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145893271","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":"Non-motor symptoms in Parkinson's disease: a practical approach.","authors":"Ann Subota, Veronica Bruno","doi":"10.1136/pn-2025-004696","DOIUrl":"10.1136/pn-2025-004696","url":null,"abstract":"<p><p>Non-motor symptoms of Parkinson's disease (PD) drive disability, reduce quality of life and increase healthcare resource use. Yet, they are often under-recognised in time-limited clinics. We outline an evidence-informed approach for everyday neurology. We propose brief previsit process followed by in-visit prioritisation of one or two high-impact symptoms and simple education/resources for the rest. Psychosis requires clinicians to address triggers, simplify dopaminergic therapy and use PD-safe antipsychotics when required. Mood and anxiety benefit from optimised dopaminergic regimens, selective serotonin reuptake inhibitors/serotonin-norepinephrine reuptake inhibitors, counselling, exercise and online cognitive-behavioural programmes. Cognitive impairment warrants regular screening and medication review; cholinesterase inhibitors are indicated for dementia. Sleep management includes treating contributing factors, hygiene measures and cautious hypnotic use. Pain and autonomic dysfunction require pragmatic, stepwise strategies tailored to real-world practice. We include special considerations for atypical Parkinsonism and caregiver needs. Integrating these steps into routine visits improves safety, function and patient-carer well-being.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"456-463"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145745044","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":"Scalp necrosis and visual loss in giant cell arteritis: the importance of recognising atypical cutaneous clues.","authors":"Samira Jafari, Niv Levi, Edward Margolin","doi":"10.1136/pn-2025-004940","DOIUrl":"10.1136/pn-2025-004940","url":null,"abstract":"<p><p>A 70-year-old woman had presented with electric shock-like left hemifacial pain, with bilateral forehead skin plaques, diagnosed as shingles. 2 weeks later, she suddenly lost vision in the left eye. She had left optic disc oedema and bilateral necrotic-looking scalp lesions. Temporal artery biopsy was consistent with active temporal arteritis. Giant cell arteritis (GCA) may rarely present with scalp necrosis due to vasculitis of the facial arteries; the resulting hemifacial pain and atypical scalp rash may be misinterpreted as varicella zoster infection, delaying urgent intervention for GCA.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"484-486"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913291","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":"Oxygen desaturation in patients with functional seizures: pitfalls for the unwary.","authors":"Takamichi Kanbayashi, Kirsteen Brown, Jon Stone","doi":"10.1136/pn-2025-004868","DOIUrl":"10.1136/pn-2025-004868","url":null,"abstract":"<p><p>Functional seizures are one of the most common presentations of functional neurological disorder and frequently generate diagnostic uncertainty in emergency settings. We are experiencing increasing reports of oxygen desaturation during functional seizures, particularly with widespread use of consumer oximeters and wearable devices. We describe a case of recurrent functional seizures with documented desaturation that prompted cardiopulmonary investigations and repeat video-electroencephalogram evaluation. In a controlled setting, apparent desaturations were attributable to artefact and brief breath-holding, with saturations remaining within the expected physiological range. We review common artefactual causes of low oxyhaemoglobin saturation in functional seizures, including motion, excessive pressure due to clenched fingers, excessive ambient light, poor probe placement and low perfusion, as well as the potential role of posthyperventilation apnoea. Recognising these pitfalls is essential to avoid misinterpretation, unnecessary investigations and anxiety for patients and clinicians. Understanding oximetry waveform quality and artefact sources is key to distinguishing true hypoxia from misleading readings.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"464-467"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146066764","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}
Abdusshakur Muhammad Auwal, Rachael Matthews, Callum Cook, Brendan Sargent, Ava Easton, Stephen T J Ray, Mark Alexander Ellul, Benedict D Michael
{"title":"Suspected encephalitis in adults.","authors":"Abdusshakur Muhammad Auwal, Rachael Matthews, Callum Cook, Brendan Sargent, Ava Easton, Stephen T J Ray, Mark Alexander Ellul, Benedict D Michael","doi":"10.1136/pn-2024-004299","DOIUrl":"10.1136/pn-2024-004299","url":null,"abstract":"<p><p>'Query encephalitis' is one of the most common reasons for inpatient neurology referral in the context of an acutely confused patient. Growing evidence suggests that time to treatment is a key determinant of outcome in both infectious and autoimmune encephalitis; hence, these two causes should be considered simultaneously at presentation. However, under-recognition and the existence of several mimics make a rapid diagnosis of encephalitis challenging. Appreciation of clinical syndromes can guide aetiological investigation and consequent treatment. In this article, we discuss clinical phenotypes associated with both infectious and autoimmune encephalitis, as well as a systematic approach to their investigation and up-to-date treatment strategies. We also highlight ongoing areas of research, such as metagenomics and therapeutic trials.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"426-439"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13638281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784435","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}
Amin Yakubu, Joseph D Burns, Jonathan Pace, Neil V Patel, Timo Krings, Emanuele Orru'
{"title":"Coma from severe spontaneous intracranial hypotension due to a CSF-venous fistula.","authors":"Amin Yakubu, Joseph D Burns, Jonathan Pace, Neil V Patel, Timo Krings, Emanuele Orru'","doi":"10.1136/pn-2025-004726","DOIUrl":"10.1136/pn-2025-004726","url":null,"abstract":"<p><p>Spontaneous intracranial hypotension (SIH) is a debilitating condition characterised by orthostatic symptoms resulting from cerebrospinal fluid (CSF) depletion. It is caused by leakage at the spinal level, causing gravitationally dependent downward displacement of intracranial structures. Rarely, severe brain sagging due to SIH can compromise brainstem function to the point of coma and even death. Effective management of such patients requires awareness about SIH as a possible cause of coma and multidisciplinary collaboration between neurocritical care, neurosurgical and neurointerventional services. The management aims to optimise supportive medical management, with early implementation of emergency treatment by placing the patient in a head-down position, and rapid detection and treatment of the CSF leak. We present a rare case of severe SIH resulting in coma from a spinal CSF-venous fistula and review the status of knowledge on this clinical scenario, emphasising current diagnostic techniques, multidisciplinary management and curative interventions.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"468-471"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145482826","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}
Frederick W Vonberg, Benjamin E Schroeder, Amy Edwards, Bo Sun, Ryan Y Keh, Mohammad Reza Ashraghi, Dorothy Joe, Nikos Gorgoraptis, Jeremy Rees, Nicholas W S Davies, Gerald Finnerty, Mark Willis, Maria Isabel Leite, Ralf Gold, Jeremias Motte, Aisling S Carr, Stephen Keddie
{"title":"CAR-T cells in the treatment of neurological autoimmune diseases.","authors":"Frederick W Vonberg, Benjamin E Schroeder, Amy Edwards, Bo Sun, Ryan Y Keh, Mohammad Reza Ashraghi, Dorothy Joe, Nikos Gorgoraptis, Jeremy Rees, Nicholas W S Davies, Gerald Finnerty, Mark Willis, Maria Isabel Leite, Ralf Gold, Jeremias Motte, Aisling S Carr, Stephen Keddie","doi":"10.1136/pn-2025-004890","DOIUrl":"10.1136/pn-2025-004890","url":null,"abstract":"<p><p>Chimeric antigen receptor T cells (CAR-T cells) have revolutionised cancer treatment by offering personalised therapy of unprecedented efficacy to patients with relapsed B-cell malignancies and myeloma. CAR-T cells are designed selectively to target CD19 or other B-cell antigens with high affinity, leading to a potent immune response and effective killing of malignant B cells. More recently, CAR-T treatment has been shown to be safe and effective in a very limited number of patients with severe, refractory autoimmune conditions such as systemic lupus erythematosus, systemic sclerosis and myositis. This paper describes the early use and feasibility of CAR-T therapies in the treatment of refractory autoimmune neurological diseases.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"414-425"},"PeriodicalIF":2.5,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913167","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}