{"title":"Neurological letter from Lithuania.","authors":"Kristijonas Puteikis, Rūta Mameniškienė","doi":"10.1136/pn-2024-004282","DOIUrl":"https://doi.org/10.1136/pn-2024-004282","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548156","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}
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":"https://doi.org/10.1136/pn-2024-004320","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-10-26","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}
{"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}
Maria Eduarda Slhsessarenko Fraife Barreto, João Victor Cabral Correia, Marianna P M de Moraes, Nathália Lopes da Silva, José Luiz Pedroso, Orlando G P Barsottini
{"title":"Acute spinal cord compression due to extramedullary haematopoiesis.","authors":"Maria Eduarda Slhsessarenko Fraife Barreto, João Victor Cabral Correia, Marianna P M de Moraes, Nathália Lopes da Silva, José Luiz Pedroso, Orlando G P Barsottini","doi":"10.1136/pn-2024-004270","DOIUrl":"https://doi.org/10.1136/pn-2024-004270","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366843","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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}
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