{"title":"An unusual type of dancing.","authors":"Daniel Gabay Moreira, Paul Esteban Sanmartin","doi":"10.1136/pn-2024-004331","DOIUrl":"https://doi.org/10.1136/pn-2024-004331","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477000","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":"Editors’ commentary","authors":"Philip Smith, Geraint N Fuller","doi":"10.1136/pn-2024-004348","DOIUrl":"https://doi.org/10.1136/pn-2024-004348","url":null,"abstract":"Even experienced neurologists must sometimes step back from a difficult clinical problem, take out the surgical sieve from their metaphorical cupboard, and check they are not missing something. The sieve provides a reminder that alongside the more common explanations we should also consider toxic, environmental and metabolic causes. In this issue, Freddie Vonberg and Peter Blain fill these gaps with a systems-based review of occupational and environmental neurotoxicology (page 357). Neurotoxic syndromes can manifest at all levels of the nervous system, from grey matter encephalopathies and leukodystrophy to myopathies and autonomic neuropathies. They can arise following acute or long-term exposure so may have the full range of clinical time courses. Some have specific treatments, but identifying and removing the exposure is essential for all. Metabolic conditions are rare and an increasing number are treatable. This is illustrated by a patient with arginine:glycine amidinotransferase deficiency (page 413), …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"106 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142204938","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":"Carphology","authors":"A Fo Ben","doi":"10.1136/pn-2024-004357","DOIUrl":"https://doi.org/10.1136/pn-2024-004357","url":null,"abstract":"Toothless crones can go both ways in literature, as either wise or wizened. The Journal of Dental Research published a meta-analysis linking tooth loss to memory decline, sparking fresh interest in the mouth–brain connection. (Several cranial nerves probably explain some of this connection, thinks A Fo Ben). The researchers found that individuals with significant tooth loss had poorer memory and were more likely to experience cognitive decline compared to those with healthy dentition. This raises the fascinating question: could keeping your teeth …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"28 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142204940","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":"ABN news","authors":"Maya McCourt, Biba Stanton","doi":"10.1136/pn-2024-004353","DOIUrl":"https://doi.org/10.1136/pn-2024-004353","url":null,"abstract":"It’s not too late to register for the ABN Autumn Meeting on 7 November in London. We have put together an exciting programme to appeal to both consultants and trainees, whether ‘jobbing neurologists’ or academic specialists. The meeting will feature national experts on topics such as obesity and neurology, sphincter control after spinal cord injury, and neural connectivity in neuropsychiatry. It will also cover clinical advances in Parkinson’s, acute migraine, and motor neurone disease treatments. Adam Zeman will deliver the John Walton lecture titled ‘The Mind’s Library and the Eye’s Mind.’ Please do help us to publicise our free annual student afternoon on …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"44 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142204939","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":"https://doi.org/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":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355952","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}
Marta Del Chicca, Elisabetta Belli, Valentina Nicoletti, Enrico Bergamin, Linda Giampietri, Alessia Pascazio, Michelangelo Maestri Tassoni, Filippo Baldacci, Gabriele Siciliano, Gloria Tognoni
{"title":"Sporadic fatal insomnia.","authors":"Marta Del Chicca, Elisabetta Belli, Valentina Nicoletti, Enrico Bergamin, Linda Giampietri, Alessia Pascazio, Michelangelo Maestri Tassoni, Filippo Baldacci, Gabriele Siciliano, Gloria Tognoni","doi":"10.1136/pn-2024-004301","DOIUrl":"https://doi.org/10.1136/pn-2024-004301","url":null,"abstract":"<p><p>We describe a 63-year-old man diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD), specifically sporadic fatal insomnia, confirmed through real-time quaking-induced conversion (RT-QuIC) analysis of cerebrospinal fluid and polysomnography. He presented with rapid cognitive decline, behavioural changes, sleep disturbances and dysautonomic symptoms. Initial MR imaging, electroencephalogram and cerebrospinal fluid analyses were inconclusive, highlighting the difficulty in diagnosing this rare subtype of CJD. Clinical evaluation is fundamental in defining the diagnosis of sCJD. When clinical suspicion is strong, the diagnostic work-up should be continued. In this case, the combination of comprehensive clinical evaluations and advanced diagnostic tools, including RT-QuIC and polysomnography, proved essential in making a definitive diagnosis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355953","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":"Investigating secondary hypertension in cerebrovascular disease.","authors":"Claudia Zeicu, Marie Fisk, Nicholas Richard Evans","doi":"10.1136/pn-2024-004169","DOIUrl":"https://doi.org/10.1136/pn-2024-004169","url":null,"abstract":"<p><p>Hypertension is the leading cause of stroke in the UK and worldwide. In recent years, stroke incidence has increased by 30%-41.5% in people aged under 64 years, with the prevalence of hypertension increasing by 4%-11%. Given that 5%-10% of people with hypertension in the general population have an underlying cause for their elevated blood pressure, it is important that all clinicians should maintain a high clinical suspicion for secondary hypertension. This review provides a clinical perspective of when to consider the underlying causes of secondary hypertension, with investigation algorithms for patients presenting with stroke and hypertension. Early involvement of hypertension specialist services is important to identify secondary causes of hypertension, as its effective control reduces cardiovascular-associated morbidity.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355951","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":"https://doi.org/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":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-23","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}
{"title":"Brain fog.","authors":"Laura McWhirter","doi":"10.1136/pn-2024-004112","DOIUrl":"https://doi.org/10.1136/pn-2024-004112","url":null,"abstract":"<p><p>'Brain fog' is a term that patients use increasingly frequently in the neurology clinic. We may think that we know what patients are talking about but at least some of the time we are likely to be getting it wrong. Patients use the term 'brain fog' to describe a wide range of subjective phenomena and symptoms. This paper suggests useful lines of questioning, and discusses the clinical correlates of a range of common 'brain fog' experiences.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297606","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":"Neurological Birdsong by Andrew Lees","authors":"Judith Clarke, Phil E Smith","doi":"10.1136/pn-2024-004347","DOIUrl":"https://doi.org/10.1136/pn-2024-004347","url":null,"abstract":"Cardiff Neurology book club recently met during a working lunchtime; the more informal setting than an evening in a consultant’s home attracting a broader range of seniority and specialty than usual. The book choice, a compendium of tweets (up to 280 characters) also proved more manageable. Professor Lees is best known as a clinical neurologist and researcher into Parkinson’s disease, and for years has been a neurology voice on Twitter (now X). Neurological Birdsong is a selection of these, giving insights, personal anecdotes and professional experiences, all alluding to neurology, and invariably anchored in patient care. The seniors in our group already knew well of Professor Lees’ fascination for neurology, evident throughout the book and his commitment to sound clinical method. His clear passion for and knowledge of literature also shines through, drawing insightful correlations from a wide range of authors and poets …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"7 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269885","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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