{"title":"Cerebrospinal fluid HIV RNA escape syndrome.","authors":"Sian Nasse, Jonathan Underwood, Tom A T Hughes","doi":"10.1136/pn-2024-004117","DOIUrl":"https://doi.org/10.1136/pn-2024-004117","url":null,"abstract":"<p><p>A 54-year-old man with treated HIV developed a subacute deterioration of speech, mobility and cognition. Cerebrospinal fluid (CSF) analysis showed a raised protein and a discordant CSF HIV RNA paired with plasma HIV RNA, confirming the diagnosis of CSF HIV RNA escape syndrome. It is important to consider this diagnosis in people with treated HIV who develop new neurological symptoms.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621156","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}
Rawan Matar, Danielle Tang, Samuel McCall, Rajith de Silva
{"title":"Glucose transporter type 1 deficiency syndrome and paroxysmal exercise-induced dyskinesia.","authors":"Rawan Matar, Danielle Tang, Samuel McCall, Rajith de Silva","doi":"10.1136/pn-2024-004118","DOIUrl":"https://doi.org/10.1136/pn-2024-004118","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601950","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":"Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.","authors":"Karthik Harisankar, Jagdeep Singh, Sahil Mehta, Vivek Lal","doi":"10.1136/pn-2024-004213","DOIUrl":"https://doi.org/10.1136/pn-2024-004213","url":null,"abstract":"<p><p>A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564772","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}
Sara García-Bellido Ruiz, Carlos Santos Martín, Alejandro Herrero San Martín, Carlos Pablo de Fuenmayor Fernández de la Hoz
{"title":"Spinal puncture through a large lumbar tattoo.","authors":"Sara García-Bellido Ruiz, Carlos Santos Martín, Alejandro Herrero San Martín, Carlos Pablo de Fuenmayor Fernández de la Hoz","doi":"10.1136/pn-2024-004194","DOIUrl":"https://doi.org/10.1136/pn-2024-004194","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499193","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":"67-year-old woman with episodic vertigo.","authors":"Roberto Luis Mendes Franco, Diego Kaski","doi":"10.1136/pn-2024-004214","DOIUrl":"10.1136/pn-2024-004214","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421360","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}
Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring
{"title":"Stroke as a career option for neurologists.","authors":"Anthony C Pereira, Vafa Alakbarzade, Samuel Shribman, Ginette Crossingham, Tom Moullaali, David Werring","doi":"10.1136/pn-2024-004111","DOIUrl":"https://doi.org/10.1136/pn-2024-004111","url":null,"abstract":"<p><p>Stroke is one of the most common acute neurological disorders and a leading cause of disability worldwide. Evidence-based treatments over the last two decades have driven a revolution in the clinical management and design of stroke services. We need a highly skilled, multidisciplinary workforce that includes neurologists as core members to deliver modern stroke care. In the UK, the dedicated subspecialty training programme for stroke medicine has recently been integrated into the neurology curriculum. All neurologists will be trained to contribute to each aspect of the stroke care pathway. We discuss how training in stroke medicine is evolving for neurologists and the opportunities and challenges around practising stroke medicine in the UK and beyond.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141440944","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":"Stroke is not optional for neurologists.","authors":"Matthew C Kiernan, Stephen M Davis","doi":"10.1136/pn-2024-004230","DOIUrl":"https://doi.org/10.1136/pn-2024-004230","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141440945","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}
Gavin L Reynolds, Gordon Plant, Simon Epps, Rani Sebastian, Luke Bennetto
{"title":"Glaucoma: what the neurologist needs to know.","authors":"Gavin L Reynolds, Gordon Plant, Simon Epps, Rani Sebastian, Luke Bennetto","doi":"10.1136/pn-2023-003905","DOIUrl":"https://doi.org/10.1136/pn-2023-003905","url":null,"abstract":"<p><p>Glaucoma is a progressive optic neuropathy resulting from pathological changes at the optic disc due to elevated intraocular pressure. Its diagnosis, treatment and follow-up are almost entirely conducted in ophthalmology clinics, with screening conducted by community optometrists. Despite this, neurologists may encounter glaucoma in both its acute presentation (as angle closure, presenting as acute headache) and its chronic forms (often as optic neuropathy of unknown cause). An awareness of the underlying pathological process, and the key distinguishing signs and symptoms, will allow neurologists to identify the glaucomatous process rapidly. Timely referral is essential as glaucoma invariably results in progressive visual loss without treatment. This review therefore condenses the wide field of glaucoma into a practical summary, aimed at practitioners with limited clinical experience of this ophthalmic condition.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141437661","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}
Claire Allen, Kirsty Armstrong, David Game, Lucy Kinton
{"title":"Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.","authors":"Claire Allen, Kirsty Armstrong, David Game, Lucy Kinton","doi":"10.1136/pn-2024-004172","DOIUrl":"https://doi.org/10.1136/pn-2024-004172","url":null,"abstract":"<p><p>Cystinosis is a lysosomal storage disorder usually presenting with renal disease in infancy. As soon as the diagnosis is made, cysteamine (a cystine-depleting medication), is started, significantly improving life expectancy. We describe a young woman taking lifelong cysteamine for nephropathic cystinosis, who became acutely encephalopathic with a spastic tetraparesis secondary to cysteamine toxicity, which was potentially worsened by copper deficiency. On replacing copper and reducing the dose of cysteamine, she made a full neurological recovery. We discuss the case, and review cystinosis and what is known about cysteamine toxicity.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421361","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}