Neil Graham, Martina Del Giovane, Jessica Hain, Erin Rooney, Karl Zimmerman, Ying Lee, Daniel Friedland, Thomas D Parker, Simon Fleminger, Maneesh C Patel, Richard Sylvester, David Sharp
{"title":"Retired contact sports athletes with cognitive concerns: promoting lifelong brain health.","authors":"Neil Graham, Martina Del Giovane, Jessica Hain, Erin Rooney, Karl Zimmerman, Ying Lee, Daniel Friedland, Thomas D Parker, Simon Fleminger, Maneesh C Patel, Richard Sylvester, David Sharp","doi":"10.1136/pn-2025-004786","DOIUrl":"https://doi.org/10.1136/pn-2025-004786","url":null,"abstract":"<p><p>There is widespread concern among former athletes about the link between head injury and dementia. Neurologists are increasingly assessing ex-contact sports athletes with cognitive and behavioural issues following repetitive head impacts and traumatic brain injury. Their assessment and management can be challenging due to the broad differential diagnosis, including psychiatric issues, trauma-related impairment and, in some cases, neurodegeneration. There may be a range of pathologies present after trauma exposure, including Alzheimer's disease and chronic traumatic encephalopathy. Currently, we have only limited understanding of specific clinical phenotypes for distinct types of post-traumatic dementia, nor are there in vivo tests for many of the pathologies. Informed by our experience running a midlife brain health clinic for retired elite contact sport athletes, we describe a practical framework for the workup of athletes with cognitive concerns, highlighting key clinical features, an approach to investigation including neuroimaging and advanced fluid biomarkers, symptomatic management strategies and research directions.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253023","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}
Sofia Lopes, Eduardo Freitas, José Manuel Araújo, Bruno Cunha, Sofia Rocha
{"title":"Unspoken art: progressive non-fluent aphasia in a painter.","authors":"Sofia Lopes, Eduardo Freitas, José Manuel Araújo, Bruno Cunha, Sofia Rocha","doi":"10.1136/pn-2025-004752","DOIUrl":"https://doi.org/10.1136/pn-2025-004752","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253042","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}
Sarah Fullam, Judith R Harrison, Kirstie N Anderson, Conor Fearon, Antoinette O'Connor, John-Paul Taylor, Sean O'Dowd
{"title":"Dementia with Lewy bodies: a practical guide to clinical diagnosis and management.","authors":"Sarah Fullam, Judith R Harrison, Kirstie N Anderson, Conor Fearon, Antoinette O'Connor, John-Paul Taylor, Sean O'Dowd","doi":"10.1136/pn-2025-004745","DOIUrl":"https://doi.org/10.1136/pn-2025-004745","url":null,"abstract":"<p><p>Dementia with Lewy bodies (DLB) is a leading cause of late-life dementia which remains underdiagnosed and misdiagnosed, and is associated with significant diagnostic delay compared with non-DLB dementias. There is a pressing need for timely and accurate diagnosis of neurodegenerative disease with the emergence of pathologically targeted disease-modifying therapies. This review aims to provide neurologists with practical advice on the recognition of classical, prodromal and variant forms of DLB. We discuss the appropriate use of diagnostic modalities, along with advice on focused and practical management in the clinical setting.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233492","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}
Angela Yan, Frederick Schon, Patrick Yu-Wai-Man, Arani Nitkunan
{"title":"Diabetes and optic atrophy in a young adult: consider Wolfram syndrome.","authors":"Angela Yan, Frederick Schon, Patrick Yu-Wai-Man, Arani Nitkunan","doi":"10.1136/pn-2025-004764","DOIUrl":"10.1136/pn-2025-004764","url":null,"abstract":"<p><p>A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic disc pallor. Her HbA1c was 94 mmol/mol (20-42). Visual evoked potentials were bilaterally symmetrically prolonged with P100 140 ms. Optical coherence tomography showed significant thinning of the peripapillary retinal nerve fibre layer. MR scan of brain and orbits showed small optic nerves and chiasm. Genetic testing confirmed a diagnosis of autosomal recessive Wolfram syndrome-1. She is currently registered blind. We review the clinical and genetic features of Wolfram syndrome.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034435","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}
Thomas C Booth, David Summers, Jagrit Shah, Helen Bulbeck, Robin Grant
{"title":"Earlier diagnosis of patients with brain tumour.","authors":"Thomas C Booth, David Summers, Jagrit Shah, Helen Bulbeck, Robin Grant","doi":"10.1136/pn-2025-004768","DOIUrl":"https://doi.org/10.1136/pn-2025-004768","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145087641","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}
Sofia Mônaco Gama, Guilherme Antonio Silva Ribeiro, Adilson Monteiro Dos Santos Filho, Sandro Luiz de Andrade Matas, Carolina Candeias da Silva, Enedina Maria Lobato De Oliveira, Henrique Ballalai Ferraz
{"title":"Spinal myxopapillary ependymoma presenting with intracranial hypertension.","authors":"Sofia Mônaco Gama, Guilherme Antonio Silva Ribeiro, Adilson Monteiro Dos Santos Filho, Sandro Luiz de Andrade Matas, Carolina Candeias da Silva, Enedina Maria Lobato De Oliveira, Henrique Ballalai Ferraz","doi":"10.1136/pn-2025-004549","DOIUrl":"10.1136/pn-2025-004549","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"487-489"},"PeriodicalIF":2.3,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626308","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":"VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.","authors":"Chethana Ramakrishna, Deepti Kapur, Jagdish Ramachandran Nair","doi":"10.1136/pn-2025-004530","DOIUrl":"10.1136/pn-2025-004530","url":null,"abstract":"<p><p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset autoinflammatory disorder caused by somatic mutations in the ubiquitin-attaching protein 1 (<i>UBA1</i>) gene. It primarily affects men aged over 50. We report a middle-aged man presenting with bilateral orbital inflammation, sixth nerve palsy, relapsing polychondritis, sensorineural hearing loss, possible vestibulopathy and a papulovesicular rash. He had macrocytic anaemia and elevated inflammatory markers, but normal autoimmune and infective screens. Imaging identified features of orbital pseudotumour. Genetic testing confirmed a <i>UBA1</i> p.Met41Thr mutation, confirming VEXAS syndrome. We gave intravenous methylprednisolone, then oral prednisolone and subsequently tocilizumab. This case highlights the multisystem presentation and rare neurological manifestations of VEXAS syndrome and emphasises the importance of genetic testing in its diagnosis. Current treatment options include corticosteroids, interleukin-6 inhibitors and Janus kinase inhibitors, with haematopoietic stem cell transplantation offering curative potential.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"458-461"},"PeriodicalIF":2.3,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028991","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}
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":"10.1136/pn-2025-004514","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"483-484"},"PeriodicalIF":2.3,"publicationDate":"2025-09-12","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}