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Journal of Neurology, Neurosurgery & Psychiatry
Journal Prestige (SJR): 3.186
Citation Impact (citeScore): 5
Number of Followers: 51  
 
  Hybrid Journal Hybrid journal (It can contain Open Access articles)
ISSN (Print) 0022-3050 - ISSN (Online) 1468-330X
Published by BMJ Publishing Group Homepage  [64 journals]
  • Correction: Early symptoms in symptomatic and preclinical genetic
           frontotemporal lobar degeneration

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      Abstract: Tavares TP, Mitchell DGV, Coleman KK, et al. Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration. J Neurol Neurosurg & Psychiatry 2020;91:975–84. doi: 10.1136/jnnp-2020-322987. The Genetic FTD Initiative, (GENFI) should have been listed in the paper. List of GENFI Consortium Members
      Alazne Gabilondo - Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain
      Albert Lladó - Alzheimer’s disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain
      Alessandro Padovani - Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
      Ana Gorostidi - Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain
      Ana Verdelho - Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal
      Andrea Arighi - Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neurodegenerative...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-322987corr1
      Issue No: Vol. 91, No. 12 (2020)
       
  • Correction: Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A

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      Abstract: Fledrich R, Mannil M, Leha A, et al. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry 2017;88:941–52. doi: 10.1136/jnnp-2017-315721.In this article, authors RF, MM, and AL contributed equally.
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2017-315721corr1
      Issue No: Vol. 91, No. 12 (2020)
       
  • Isaacs syndrome: the frontier of neurology, psychiatry, immunology and
           cancer

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      Authors: Park, S. B; Thurbon, R, Kiernan, M. C.
      Pages: 1243 - 1244
      Abstract: A syndrome of continuous muscle-fibre activity
      Authors : Isaacs H Year published: 1961 Number of times cited: 480 Evolution of Isaacs syndrome from case studies that described continuous ectopic activity through to an understanding as a multisystem autoimmune condition Six decades ago, Dr Hyam Isaacs reported a new clinical syndrome in the Journal of Neurology, Neurosurgery and Psychiatry.1 Isaacs used the term ‘syndrome of continuous muscle-fibre activity’ or the more descriptive ‘armadillo disease’ for the condition which now has become known as Isaacs syndrome or acquired autoimmune neuromyotonia. In his landmark series, Isaacs described a phenotype of progressive muscle stiffness, with widespread fasciculation leading to weakness. A key finding was continuous muscle activity on electromyography, occurring at rest and unaffected by local nerve blockade. The original report also detailed a number of unsuccessful treatment approaches, as well as an astonishing improvement produced by sodium diphenyl...
      Keywords: 2020 Vision
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324675
      Issue No: Vol. 91, No. 12 (2020)
       
  • Epilepsy, an orphan disorder within the neurodevelopmental family

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      Authors: Shankar, R; Perera, B, Thomas, R. H.
      Pages: 1245 - 1247
      Abstract: In 1997, the neurologist Rajendra Kale stated in the British Medical Journal ‘The history of epilepsy can be summarised as 4000 years of ignorance, superstition, and stigma followed by 100 years of knowledge, superstition, and stigma’. Epilepsy remains an orphan disorder, in so much that it remains ostracised from the family of neurodevelopmental disorders (NDDs). The NDDs primarily refer to intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), communication disorders, specific learning disorders and motor disorders such as tics/Tourette. The Diagnostic and Statistical Manuel of Mental Disorders fifth edition (DSM V) description emphasises that NDDs typically have a childhood onset, with manifestations in early period as developmental deficits. Epilepsy and epileptic encephalopathy are not listed under NDDs, but epilepsy in particular genetic epilepsy is a remarkably common comorbidity of NDDs. Significantly higher epilepsy prevalence is observed in ID (22.5%), ASD (20%) and ADHD (15%) than...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324660
      Issue No: Vol. 91, No. 12 (2020)
       
  • When hearing loss masquerades as cognitive decline

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      Authors: Füllgrabe C.
      Pages: 1248 - 1248
      Abstract: Audibility and processing effort can bias cognitive-test performance In recent years, dementia research has increasingly focused on age-related hearing loss and its association with accelerated cognitive decline and contribution to dementia risk.1 In this issue, Parker et al2 (pp172–176) investigated whether pure-tone audiometric thresholds (an indicator of peripheral hearing status) predict biomarkers of dementia-associated cerebral pathologies and cognitive performance in the preclinical older population. Hearing thresholds were indeed negatively associated with scores on the Mini-Mental State Examination (MMSE), a widely used screen for cognitive impairment. However, the authors noticed that this relationship was no longer significant when the auditory-based repetition item of the MMSE ("No ifs, ands, or buts.") was excluded from the analysis. From an audiological point of view, this finding is not surprising. Sibilant consonants, such as the plural marker ‘s’ in the English version of the repetition item, are characterised by...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324707
      Issue No: Vol. 91, No. 12 (2020)
       
  • High mortality rate in COVID-19-associated stroke, analysis of risk
           factors

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      Authors: Renieri L.
      Pages: 1249 - 1249
      Abstract: Why is there a disproportionate rate among black patients' In a preliminary analysis of a North American neurovascular consortium comprising 14 comprehensive stroke centres in the USA and Canada, Dmytriw et al on p XXX suggest that rates of mortality with COVID-19–associated stroke are greater than in COVID-19 or stroke in otherwise. Importantly, African American/black patients experience greater rates of mortality when suffering stroke compared with other races in this cohort. While this group had greater rates of diabetes mellitus, higher LDL levels and higher sICH, there were no definite other differences between them. Lower rates of tPA and EVT administration approached significance, but it is unclear whether this will be borne out as the consortium grows. The neurological insults associated with COVID-19 are becoming increasingly recognised.1 An initial report from China showed 4.6% of patients with COVID-19 had acute ischaemic stroke (10/219), and strokes were...
      Keywords: COVID-19
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324781
      Issue No: Vol. 91, No. 12 (2020)
       
  • Metabolomic insights into neurodegene{-}rative disease

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      Authors: Kiernan M. C.
      Pages: 1250 - 1250
      Abstract: Metabolomics provide a further guide to the development of precision therapies in ALS A key facet for the establishment of tailored intervention strategies directed against disease relates to the identification of patient subgroups and phenotypes which may then be utilised to predict individual treatment response and suggest future care approaches. Comprehensive clinical phenotyping is essential to reach an early and accurate diagnosis, and for mapping subsequent patterns of progression.1 It further serves to identify correlation between the variables of clinical presentation and disease burden, potentially enabling biomarker development.2 In turn, comprehensive patient phenotyping may assist in the stratification necessary to identify which patients may benefit most from a specific intervention.3 With these concepts in mind, the study by Goutman and colleagues delineates a role for advanced metabolomic analyses to gain insight into disease mechanisms and potentially new therapeutic opportunities for motor neurodegenerative...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324856
      Issue No: Vol. 91, No. 12 (2020)
       
  • More time, more safety: is this the future optimal way for natalizumab
           treatment in multiple sclerosis'

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      Authors: Annunziata P.
      Pages: 1251 - 1251
      Abstract: Immune therapy of multiple sclerosis with monoclonal antibodies modulating the lymphocyte trafficking could require new treatment options Natalizumab (NTZ) remains the first monoclonal antibody approved for immune therapy of multiple sclerosis (MS) exerting its activity through limitation of lymphocyte trafficking across blood–brain barrier endothelium. However, this underlying mechanism in front of an established clinical efficacy exposes the treatment to serious adverse event such as the occurrence of progressive multifocal leucoencephalopathy (PML). This risk has been linked to either circulating anti-JC virus (JCV) antibody level or to previous immunosuppressive treatments. A recent retrospective analysis of four previous NTZ clinical trials estimates the PML risk less than 0.07 per 1000 patients in anti-JCV antibody-negative patients rising to 1.7% in anti-JCV antibody-positive patients with no immunosuppressive treatment and to 2.7% in those previously receiving immunosuppressants. Moreover, the risk progressively increases with the number of NTZ infusions.1 This scenario has...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324032
      Issue No: Vol. 91, No. 12 (2020)
       
  • Does contact sport lead to despair'

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      Authors: Zafonte R.
      Pages: 1252 - 1253
      Abstract: This commentary reviews an important cohort study and discusses the possible linkage between contact sport and behavioural dysfunction In an important cohort study of former professional soccer players from Scotland, Russell et al examined the comparative mental health outcomes of this group.1 Previous work from this group had demonstrated a higher incidence of mortality from neurodegenerative disease. Among professional European-style football players2 the risk factor for neurodegenerative disease in those with contact sport has been demonstrated, in football/soccer, and in American-style football. Several authors have poised behavioural health concerns to be a critical part of the phenotype linked to sport-related neurodegenerative disease such as traumatic encephalopathy syndrome.3 Indeed, concussions and perhaps multiple concussions, have been linked to behavioural health concerns. In this study, Russell et al did not note a higher level of hospitalisations for mental health outcomes nor did they demonstrate...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323616
      Issue No: Vol. 91, No. 12 (2020)
       
  • Prognostic value of acute CT in stroke thrombolysis

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      Authors: Muir K. W.
      Pages: 1254 - 1254
      Abstract: How do pre-thrombolysis CT scan appearances in acute stroke aid prognosis' Insights from the ENCHANTED trial In acute stroke, CT scanning was the predominant imaging modality in clinical trials of thrombolysis and thrombectomy. While CT reliably excludes intracranial haemorrhage and some structural stroke mimics, the inherently slow decrease in X-ray attenuation over the hours after stroke onset limits the sensitivity of CT to acute ischaemia. Interpretation of subtle early ischaemic changes is confounded by common background abnormalities including atrophy, old infarcts or haemorrhage, and rarefaction of cerebral white matter due to chronic ischaemia (leukoaraiosis). In this issue, the ENCHANTED investigators report associations of both acute ischaemia and background ‘brain frailty’ on pre-thrombolysis CT with clinical outcomes in a large clinical trial.1 ENCHANTED compared standard dose alteplase with a lower dose regime that is widely used in south-east Asian countries. The associations with outcome therefore apply in...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324808
      Issue No: Vol. 91, No. 12 (2020)
       
  • Curious case of FTD-ALS

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      Authors: Josephs K. A.
      Pages: 1255 - 1255
      Abstract: Do behavioural and cognitive deficits support FTD and ALS being on a spectrum or FTD-ALS being a unique entity' The frontotemporal dementias (FTDs) are a group of disorders linked by presentation features combining executive, language and behavioural dysfunction. FTD includes three main clinical syndromes: behavioural variant FTD (bvFTD), semantic dementia and progressive agrammatic/non-fluent aphasia. Over the past two decades there have been significant advancements in our understanding of the biology, genetics and molecular pathology of FTD. One such advancement was the identification of TAR DNA binding protein 43 (TDP-43) in the brains of FTD patients.1 Another was the discovery that FTD can be associated with expansions in the C9ORF72 gene.2 What is intriguing is that both TDP-43 and C9ORF72 mutations are also strongly linked to another neurodegenerative disease, amyotrophic lateral sclerosis (ALS). Patients with ALS typically present with pyramidal tract and lower motor neuron...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324669
      Issue No: Vol. 91, No. 12 (2020)
       
  • Mental health and suicide in former professional soccer players

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      Authors: Russell, E. R; McCabe, T, Mackay, D. F, Stewart, K, MacLean, J. A, Pell, J. P, Stewart, W.
      Pages: 1256 - 1260
      Abstract: IntroductionThere is growing recognition of an association between contact sports participation and increased risk of neurodegenerative disease, including Alzheimer’s disease and chronic traumatic encephalopathy. In addition to cognitive impairment, a range of mental health disorders and suicidality are proposed as diagnostic features of traumatic encephalopathy syndrome, the putative clinical syndrome associated with chronic traumatic encephalopathy. However, to date, epidemiological data on contact sport participation and mental health outcomes are limited.MethodsFor a cohort of former professional soccer players (n=7676) with known high neurodegenerative mortality and their matched general population controls (n=23 028), data on mental health outcomes were obtained by individual-level record linkage to national electronic records of hospital admissions and death certification.ResultsCompared with matched population controls, former professional soccer players showed lower risk of hospital admission for anxiety and stress related disorders, depression, drug use disorders, alcohol use disorders and bipolar and affective mood disorders. Among soccer players, there was no significant difference in risk of hospitalisation for mental health disorders between outfield players and goalkeepers. There was no significant difference in rate of death by suicide between soccer players and controls.ConclusionsAmong a population of former professional soccer players with known high neurodegenerative disease mortality, hospital admissions for common mental health disorders were lower than population controls, with no difference in suicide. Our data provide support for the reappraisal of currently proposed diagnostic clinical criteria for traumatic encephalopathy syndrome, in particular the inclusion of mental health outcomes.
      Keywords: JNNP Patients' choice
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323315
      Issue No: Vol. 91, No. 12 (2020)
       
  • Biomarkers in functional movement disorders: a systematic review

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      Authors: Thomsen, B. L. C; Teodoro, T, Edwards, M. J.
      Pages: 1261 - 1269
      Abstract: Functional movement disorders (FMD) are proposed to reflect a specific problem with voluntary control of movement, despite normal intent to move and an intact neural capacity for movement. In many cases, a positive diagnosis of FMD can be established on clinical grounds. However, the diagnosis remains challenging in certain scenarios, and there is a need for predictors of treatment response and long-term prognosis.In this context, we performed a systematic review of biomarkers in FMD. Eighty-six studies met our predefined criteria and were included.We found fairly reliable electroencephalography and electromyography-based diagnostic biomarkers for functional myoclonus and tremor. Promising biomarkers have also been described for functional paresis, gait and balance disorders. In contrast, there is still a lack of diagnostic biomarkers of functional dystonia and tics, where clinical diagnosis is often also more challenging. Importantly, many promising findings focus on pathophysiology and reflect group-level comparisons, but cannot differentiate on an individual basis. Some biomarkers also require access to time-consuming and resource-consuming techniques such as functional MRI.In conclusion, there are important gaps in diagnostic biomarkers in FMD in the areas of most clinical uncertainty. There is also is a lack of treatment response and prognostic biomarkers to aid in the selection of patients who would benefit from rehabilitation and other forms of treatment.
      Keywords: Editor's choice
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323141
      Issue No: Vol. 91, No. 12 (2020)
       
  • Comparison between deep brain stimulation and magnetic resonance-guided
           focused ultrasound in the treatment of essential tremor: a systematic
           review and pooled analysis of functional outcomes

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      Authors: Giordano, M; Caccavella, V. M, Zaed, I, Foglia Manzillo, L, Montano, N, Olivi, A, Polli, F. M.
      Pages: 1270 - 1278
      Abstract: The current gold standard surgical treatment for medication-resistant essential tremor (ET) is deep brain stimulation (DBS). However, recent advances in technologies have led to the development of incisionless techniques, such as magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy. The authors perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement to compare unilateral MRgFUS thalamotomy to unilateral and bilateral DBS in the treatment of ET in terms of tremor severity and quality of life improvement. PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials and SCOPUS databases were searched. 45 eligible articles, published between 1990 and 2019, were retrieved. 1202 patients were treated with DBS and 477 were treated with MRgFUS thalamotomy. Postoperative tremor improvement was greater following DBS than MRgFUS thalamotomy (p
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323216
      Issue No: Vol. 91, No. 12 (2020)
       
  • Inside minds, beneath diseases: social cognition in amyotrophic lateral
           sclerosis-frontotemporal spectrum disorder

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      Authors: Lillo, P; Caramelli, P, Musa, G, Parrao, T, Hughes, R, Aragon, A, Valenzuela, D, Cea, G, Aranguiz, R, Guimaraes, H. C, Rousseff, L, Gambogi, L. B, Mariano, L. I, Teixeira, A. L, Slachevsky, A, de Souza, L. C.
      Pages: 1279 - 1282
      Abstract: ObjectiveTo compare social cognition performance between patients with amyotrophic lateral sclerosis (ALS) and those patients with behavioural variant frontotemporal dementia (bvFTD).MethodsWe included 21 participants with ALS, 20 with bvFTD and 21 healthy controls who underwent a comprehensive cognitive battery, including the short version of the Social Cognition and Emotional Assessment (Mini-SEA), which comprises the faux pas test and Facial Emotion Recognition Test (FERT); Mini-Mental State Examination; Frontal Assessment Battery; lexical fluency (F-A-S), category fluency (animals/minute), digit span (direct and backwards) tests and the Hayling test. A post hoc analysis was conducted with the patients with ALS divided into two subgroups: patients without cognitive impairment (ALScn; n=13) and patients with cognitive impairment (ALSci; n=8).ResultsNo significant difference was noted between participant groups in terms of the age, sex and education. ALS-total group and patients with bvFTD had similar disease durations. Patients with ALSci performed poorly when compared with controls with regard to the FERT (p
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324302
      Issue No: Vol. 91, No. 12 (2020)
       
  • Carotid web: an occult mechanism of embolic stroke

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      Authors: Mac Grory, B; Emmer, B. J, Roosendaal, S. D, Zagzag, D, Yaghi, S, Nossek, E.
      Pages: 1283 - 1289
      Abstract: The carotid web is a proposed stroke mechanism that may underlie cryptogenic stroke, particularly in younger patients without vascular risk factors. The web appears as a shelf-like projection into the lumen of the proximal cervical internal carotid artery without evidence of calcification. It is pathologically defined as intimal fibromuscular dysplasia. Altered haemodynamics distal to the web cause flow stagnation and remote embolisation of fibrin-based clots. It is best demonstrated and diagnosed on CT angiography (CTA) of the neck because of its ability to resolve calcium and create multiplanar reconstructions. Although they can be readily visualised on CTA, carotid webs may be missed or misinterpreted because they do not typically cause haemodynamically significant stenosis and can mimic arterial dissection, non-calcified atherosclerotic plaque and intraluminal thrombus. Options for management include antiplatelet therapy, carotid endarterectomy and carotid artery stenting. Modern management strategies for cryptogenic stroke include long-term cardiac monitoring, further investigation for structural cardiac disease and a diagnostic workup for arterial hypercoagulability, however, these strategies are not likely to capture the possibility of a carotid web. Carotid webs should be suspected in a young patient presenting with recurrent unihemispheric strokes particularly when conventional vascular risk factors are not present.
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323938
      Issue No: Vol. 91, No. 12 (2020)
       
  • Brain imaging abnormalities and outcome after acute ischaemic stroke: the
           ENCHANTED trial

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      Authors: Delcourt, C; Wang, X, Zhou, Z, Wardlaw, J. M, Mair, G, Robinson, T. G, Chen, X, Yoshimura, S, Torii-Yoshimura, T, Carcel, C, Calic, Z, Tan, W. Y, Malavera, A, Anderson, C. S, Lindley, R. I.
      Pages: 1290 - 1296
      Abstract: ObjectiveTo test the hypothesis that imaging signs of ‘brain frailty’ and acute ischaemia predict clinical outcomes and symptomatic intracranial haemorrhage (sICH) after thrombolysis for acute ischaemic stroke (AIS) in the alteplase dose arm of ENhanced Control of Hypertension ANd Thrombolysis strokE stuDy (ENCHANTED).MethodsBlinded assessors coded baseline images for acute ischaemic signs (presence, extent, swelling and attenuation of acute lesions; and hyperattenuated arteries) and pre-existing changes (atrophy, leucoaraiosis and old ischaemic lesions). Logistic regression models assessed associations between imaging features and death at 7 and 90 days; good recovery (modified Rankin Scale scores 0–2 at 90 days) and sICH. Data are reported with adjusted ORs and 95% CIs.Results2916 patients (67±13 years, National Institutes of Health Stroke Scale 8 (5–14)) were included. Visible ischaemic lesions, severe hypoattenuation, large ischaemic lesion, swelling and hyperattenuated arteries were associated with 7-day death (OR (95% CI): 1.52 (1.06 to 2.18); 1.51 (1.01 to 2.18); 2.67 (1.52 to 4.71); 1.49 (1.03 to 2.14) and 2.17 (1.48 to 3.18)) and inversely with good outcome. Severe atrophy was inversely associated with 7-day death (0.52 (0.29 to 0.96)). Atrophy (1.52 (1.08 to 2.15)) and severe leucoaraiosis (1.74 (1.20 to 2.54)) were associated with 90-day death. Hyperattenuated arteries were associated with sICH (1.71 (1.01 to 2.89)). No imaging features modified the effect of alteplase dose.ConclusionsNon-expert-defined brain imaging signs of brain frailty and acute ischaemia contribute to the prognosis of thrombolysis-treated AIS patients for sICH and mortality. However, these imaging features showed no interaction with alteplase dose.
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323015
      Issue No: Vol. 91, No. 12 (2020)
       
  • Clinical effectiveness of different natalizumab interval dosing schedules
           in a large Italian population of patients with multiple sclerosis

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      Authors: Chisari, C. G; Grimaldi, L. M, Salemi, G, Ragonese, P, Iaffaldano, P, Bonavita, S, Sparaco, M, Rovaris, M, D'Arma, A, Lugaresi, A, Ferro, M. T, Grossi, P, Di Sapio, A, Cocco, E, Granella, F, Curti, E, Lepore, V, Trojano, M, Patti, F, on behalf of the Italian MS Register Study Group
      Pages: 1297 - 1303
      Abstract: IntroductionNatalizumab (NTZ) is one of the most effective treatment options for multiple sclerosis (MS) treatment. Our study aimed to evaluate the effectiveness of NTZ when administered according to the extended dosing strategy compared with standard 4-weekly administration in a large Italian MS population.Materials and methodsThis retrospective multicentre study included patients with relapsing-remitting MS (RR-MS) who received NTZ administrations between the 1 June 2012 and the 15 May 2018 and were followed by the ‘Italian MS Register’. All patients with MS were stratified into two groups based on NTZ administration schedule: standard interval dosing (SID) patients who received infusions on average from 28 to 32 days (median 30) and extended interval dosing (EID) including patients who have been infused with interval between 33 and 49 days (median 43). Clinical data were assessed at baseline (before starting NTZ), after 12 (T1) and 24 months (T2) of treatment.ResultsOut of 5231 patients with RR-MS screened, 2092 (mean age 43.2±12.0, 60.6% women) were enrolled. A total of 1254 (59.9%) received NTZ according to SID, and 838 (40.1%) according to EID. At 12 and 24 months, no differences in terms of annualised relapse rate and disability status were found between the two groups. Progression index and confirmed disability worsening were similar between the two groups.DiscussionThe use of NTZ with an extended interval schedule showed similar effectiveness compared with SID. Unchanged clinical efficacy of EID schedule may raise the question of a possible advantage in terms of tolerability and safety.
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323472
      Issue No: Vol. 91, No. 12 (2020)
       
  • Cognition and behaviour in frontotemporal dementia with and without
           amyotrophic lateral sclerosis

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      Authors: Saxon, J. A; Thompson, J. C, Harris, J. M, Richardson, A. M, Langheinrich, T, Rollinson, S, Pickering-Brown, S, Chaouch, A, Ealing, J, Hamdalla, H, Young, C. A, Blackburn, D, Majeed, T, Gall, C, Jones, M, Snowden, J. S.
      Pages: 1304 - 1311
      Abstract: ObjectiveThe precise relationship between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is incompletely understood. The association has been described as a continuum, yet data suggest that this may be an oversimplification. Direct comparisons between patients who have behavioural variant FTD (bvFTD) with and without ALS are rare. This prospective comparative study aimed to determine whether there are phenotypic differences in cognition and behaviour between patients with FTD-ALS and bvFTD alone.MethodsPatients with bvFTD or FTD-ALS and healthy controls underwent neuropsychological testing, focusing on language, executive functions and social cognition. Behavioural change was measured through caregiver interview. Blood samples were screened for known FTD genes.Results23 bvFTD, 20 FTD-ALS and 30 controls participated. On cognitive tests, highly significant differences were elicited between patients and controls, confirming the tests’ sensitivities to FTD. bvFTD and FTD-ALS groups performed similarly, although with slightly greater difficulty in patients with ALS-FTD on category fluency and a sentence-ordering task that assesses grammar production. Patients with bvFTD demonstrated more widespread behavioural change, with more frequent disinhibition, impulsivity, loss of empathy and repetitive behaviours. Behaviour in FTD-ALS was dominated by apathy. The C9ORF72 repeat expansion was associated with poorer performance on language-related tasks.ConclusionsDifferences were elicited in cognition and behaviour between bvFTD and FTD-ALS, and patients carrying the C9ORF72 repeat expansion. The findings, which raise the possibility of phenotypic variation between bvFTD and FTD-ALS, have clinical implications for early detection of FTD-ALS and theoretical implications for the nature of the relationship between FTD and ALS.
      Keywords: Open access
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323969
      Issue No: Vol. 91, No. 12 (2020)
       
  • Relationship between smoking and ALS: Mendelian randomisation
           interrogation of causality

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      Authors: Opie-Martin, S; Wootton, R. E, Budu-Aggrey, A, Shatunov, A, Jones, A. R, Iacoangeli, A, Al Khleifat, A, Davey-Smith, G, Al-Chalabi, A.
      Pages: 1312 - 1315
      Abstract: ObjectiveSmoking has been widely studied as a susceptibility factor for amyotrophic lateral sclerosis (ALS), but results are conflicting and at risk of confounding bias. We used the results of recently published large genome-wide association studies and Mendelian randomisation methods to reduce confounding to assess the relationship between smoking and ALS.MethodsTwo genome-wide association studies investigating lifetime smoking (n=463 003) and ever smoking (n=1 232 091) were identified and used to define instrumental variables for smoking. A genome-wide association study of ALS (20 806 cases; 59 804 controls) was used as the outcome for inverse variance weighted Mendelian randomisation, and four other Mendelian randomisation methods, to test whether smoking is causal for ALS. Analyses were bidirectional to assess reverse causality.ResultsThere was no strong evidence for a causal or reverse causal relationship between smoking and ALS. The results of Mendelian randomisation using the inverse variance weighted method were: lifetime smoking OR 0.94 (95% CI 0.74 to 1.19), p value 0.59; ever smoking OR 1.10 (95% CI 1 to 1.23), p value 0.05.ConclusionsUsing multiple methods, large sample sizes and sensitivity analyses, we find no evidence with Mendelian randomisation techniques that smoking causes ALS. Other smoking phenotypes, such as current smoking, may be suitable for future Mendelian randomisation studies
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323316
      Issue No: Vol. 91, No. 12 (2020)
       
  • Anti-A{beta} agents for mild to moderate Alzheimer's disease: systematic
           review and meta-analysis

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      Authors: Lu, L; Zheng, X, Wang, S, Tang, C, Zhang, Y, Yao, G, Zeng, J, Ge, S, Wen, H, Xu, M, Guyatt, G, Xu, N.
      Pages: 1316 - 1324
      Abstract: ObjectiveTo assess the efficacy and safety of Aβ-targeting agents for mild to moderate Alzheimer’s disease.MethodsThe MEDLINE, Embase, Cochrane Central Register of Controlled Trials, PsycINFO, ClinicalTrials.gov and the WHO’s International Clinical Trials Registry Platform search portal were searched from their inception to April 2020. We generated pooled estimates using random effects meta-analyses.ResultsNineteen randomised controlled trials, of which 17 had a low risk of bias, included 12 903 participants. The meta-analysis showed no difference in the cognitive subscale of Alzheimer’s Disease Assessment Scale (ADAS-Cog) between anti-Aβ drugs and placebo (mean difference (MD): 0.20, 95% CI –0.40 to 0.81; I 2=99.8%; minimal important difference 3.1–3.8 points, moderate-certainty evidence). For ADAS-Cog, results suggested that one drug that increases Aβ clearance may differ in effect (MD: –0.96, 95% CI –0.99 to –0.92) from drugs that reduce Aβ production (MD: 0.78, 95% CI 0.25 to 1.32) (interaction p
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323497
      Issue No: Vol. 91, No. 12 (2020)
       
  • Abnormal pain perception is associated with thalamo-cortico-striatal
           atrophy in C9orf72 expansion carriers in the GENFI cohort

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      Authors: Convery, R. S; Bocchetta, M, Greaves, C. V, Moore, K. M, Cash, D. M, Van Swieten, J, Moreno, F, Sanchez-Valle, R, Borroni, B, Laforce Jr, R, Masellis, M, Tartaglia, M. C, Graff, C, Galimberti, D, Rowe, J. B, Finger, E, Synofzik, M, Vandenberghe, R, de Mendonca, A, Tagliavini, F, Santana, I, Ducharme, S, Butler, C, Gerhard, A, Levin, J, Danek, A, Otto, M, Warren, J. D, Rohrer, J. D, on behalf of the Genetic FTD Initiative (GENFI), Rossor, Fox, Woollacott, Shafei, Heller, Peakman, Swift, Todd, Guerreiro, Bras, Thomas, Nicholas, Mead, Jiskoot, Meeter, Panman, Papma, van Minkelen, Pijnenburg, Barandiara, Indakoetxea, Gabilondo, Tainta, de Arriba, Gorostidi, Zulaica, Villanua, Diaz, Borrego-Ecija, Olives, Llado, Balasa, Antonell, Bargallo, Premi, Cosseddu, Gazzina, Padovani, Gasparotti, Archetti, Black, Mitchell, Rogaeva, Freedman, Keren, Tang-Wai, Öijerstedt, Andersson, Jelic, Thonberg, Arighi, Fenoglio, Scarpini, Fumagalli, Cope, Timberlake, Rittman, Shoesmith, Bartha, Rademakers, Wilke, Karnarth, Bender, Bruffaerts, Vandamme, Vandenbulcke, Ferreira, Miltenberger, Maruta, Verdelho, Afonso, Taipa, Caroppo, Di Fede, Giaccone, Prioni, Redaelli, Rossi, Tiraboschi, Duro, Almeida, Branco, Leitao, Tabuas-Pereira, Santiago, Gauthier, Rosa-Neto, Veldsman, Flanagan, Prix, Hoegen, Wlasich, Loosli, Schonecker, Semler, Anderl-Straub
      Pages: 1325 - 1328
      Abstract: ObjectiveFrontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI).MethodsAbnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception.ResultsAltered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum.ConclusionChanges in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323279
      Issue No: Vol. 91, No. 12 (2020)
       
  • Untargeted metabolomics yields insight into ALS disease mechanisms

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      Authors: Goutman, S. A; Boss, J, Guo, K, Alakwaa, F. M, Patterson, A, Kim, S, Savelieff, M. G, Hur, J, Feldman, E. L.
      Pages: 1329 - 1338
      Abstract: ObjectiveTo identify dysregulated metabolic pathways in amyotrophic lateral sclerosis (ALS) versus control participants through untargeted metabolomics.MethodsUntargeted metabolomics was performed on plasma from ALS participants (n=125) around 6.8 months after diagnosis and healthy controls (n=71). Individual differential metabolites in ALS cases versus controls were assessed by Wilcoxon rank-sum tests, adjusted logistic regression and partial least squares-discriminant analysis (PLS-DA), while group lasso explored sub-pathway-level differences. Adjustment parameters included sex, age and body mass index (BMI). Metabolomics pathway enrichment analysis was performed on metabolites selected by the above methods. Finally, machine learning classification algorithms applied to group lasso-selected metabolites were evaluated for classifying case status.ResultsThere were no group differences in sex, age and BMI. Significant metabolites selected were 303 by Wilcoxon, 300 by logistic regression, 295 by PLS-DA and 259 by group lasso, corresponding to 11, 13, 12 and 22 enriched sub-pathways, respectively. ‘Benzoate metabolism’, ‘ceramides’, ‘creatine metabolism’, ‘fatty acid metabolism (acyl carnitine, polyunsaturated)’ and ‘hexosylceramides’ sub-pathways were enriched by all methods, and ‘sphingomyelins’ by all but Wilcoxon, indicating these pathways significantly associate with ALS. Finally, machine learning prediction of ALS cases using group lasso-selected metabolites achieved the best performance by regularised logistic regression with elastic net regularisation, with an area under the curve of 0.98 and specificity of 83%.ConclusionIn our analysis, ALS led to significant metabolic pathway alterations, which had correlations to known ALS pathomechanisms in the basic and clinical literature, and may represent important targets for future ALS therapeutics.
      Keywords: Open access
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323611
      Issue No: Vol. 91, No. 12 (2020)
       
  • Serum IgG anti-GD1a antibody and mEGOS predict outcome in Guillain-Barre
           syndrome

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      Authors: Yamagishi, Y; Kuwahara, M, Suzuki, H, Sonoo, M, Kuwabara, S, Yokota, T, Nomura, K, Chiba, A, Kaji, R, Kanda, T, Kaida, K.-i, Mutoh, T, Yamasaki, R, Takashima, H, Matsui, M, Nishiyama, K, Sobue, G, Kusunoki, S.
      Pages: 1339 - 1342
      Abstract: ObjectiveApproximately 15%–20% of patients with Guillain-Barré syndrome (GBS) are unable to walk independently at 6 months from the onset of neurological symptom. The modified Erasmus GBS outcome score (mEGOS) has been reported as a prognostic tool.Herein we investigated the association between a poor outcome, inability to walk independently at 6 months and presence of antiganglioside antibodies.MethodsThe clinical and serological data of 177 patients with GBS were retrospectively collected in Japan to assess the associations between a poor outcome and serum IgG antibodies against each ganglioside (GM1, GD1a, GalNAc-GD1a, GQ1b and GT1a). In addition, we investigated whether the combination of mEGOS and serum IgG antibodies against gangliosides is useful in predicting a poor outcome.ResultsThe patients with IgG anti-GD1a antibodies more frequently showed poor outcomes than those without these antibodies (9 (36%) of 25 vs 8 (6%) of 127 patients, p
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323960
      Issue No: Vol. 91, No. 12 (2020)
       
  • Pallidal deep brain stimulation in primary Meige syndrome: clinical
           outcomes and psychiatric features

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      Authors: Hao, Q; Wang, D, OuYang, J, Ding, H, Wu, G, Liu, Z, Liu, R.
      Pages: 1343 - 1348
      Abstract: ObjectivesTo study the efficacy and safety of bilateral globus pallidus internus deep brain stimulation (GPi-DBS) in refractory Meige syndrome (MS) and evaluate the psychiatric disorders before and after surgery.MethodsTwenty-two patients with MS treated with bilateral GPi-DBS were retrospectively analysed before surgery and after continuous neurostimulation. Before surgery, patients were assessed by the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), Self-Rating Depression Scale, Medical Outcomes Study 36-Item Short-Form General Health Survey (SF-36) and Pittsburgh Sleep Quality Index (PQSI), which corresponded to motor symptoms, depressive state, quality of life and sleep quality, respectively. The implantable pulse generator of each patient was activated at 1 month after surgery. At 1 month, 3 months, 6 months and 12 months after continuous neurostimulation, all patients were evaluated by the same scales above.ResultsThe BFMDRS movement scores decreased from 15.0±5.3 before surgery to 3.5±4.5 at 12 months after neurostimulation, with a mean improvement of 78% (p
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323701
      Issue No: Vol. 91, No. 12 (2020)
       
  • Deep brain stimulation of the subthalamic nucleus in obsessive-compulsives
           disorders: long-term follow-up of an open, prospective, observational
           cohort

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      Authors: Chabardes, S; Krack, P, Piallat, B, Bougerol, T, Seigneuret, E, Yelnik, J, Fernandez Vidal, S, David, O, Mallet, L, Benabid, A.-L, Polosan, M.
      Pages: 1349 - 1356
      Abstract: BackgroundObsessive–compulsive disorder (OCD) is a major cause of disability in western country and responsible for severe impairment of quality of life. About 10% of patients present with severe OCD symptoms and require innovative treatment such as deep brain stimulation (DBS). Among possible targets, the non-motor subthalamic nucleus (STN) is a key node of the basal ganglia circuitry, strongly connected to limbic cortical areas known to be involved in OCD.MethodWe analysed, in a prospective, observational, monocentric, open label cohort, the effect of chronic non-motor STN-DBS in 19 patients with treatment-resistant OCD consecutively operated in a single centre. Severity of OCD was evaluated using the Yale and Brown Obsessive–Compulsive Scale (YBOCS). YBOCS scores at 6, 12 and 24 months postoperatively were compared with baseline. Responders were defined by>35% improvement of YBOCS scores. Global Assessment Functioning (GAF) scale was used to evaluate the impact of improvement.ResultsAt a 24-month follow-up, the mean YBOCS score improved by 53.4% from 33.3±3.5 to 15.8±9.1 (95% CI 11.2–20.4; p
      Keywords: Open access
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323421
      Issue No: Vol. 91, No. 12 (2020)
       
  • Recognising hemihypomimia as a mimic of 'facial weakness

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      Authors: Phillips, O; D'Abreu, A, Friedman, J. H, Akbar, U.
      Pages: 1357 - 1358
      Abstract: Case descriptions Patient A is a 69-year-old man with a 5-year history of progressive right hand then leg tremor, stiffness and slowness with recent diagnosis of Parkinson’s disease (PD) 3 months prior to this encounter. Examination demonstrated unilateral right-sided facial droop at rest largely sparing the upper face and with accompanying decreased right lower facial muscle activation. Unified Parkinson’s Disease Rating Scale motor examination score (UPDRS-III) was 26. UPDRS-III facial expression subscore had decreased from 2 to 1 since starting carbidopa/levodopa 50–200 three times daily 3 months prior. Similarly, patient B is a 77-year-old woman with a 3-year history of tremor starting in her left hand and a diagnosis of PD since 2017. Examination demonstrated resting unilateral left-sided facial droop involving both the upper and lower face with associated upper-worse-than-lower facial asymmetry. UPDRS-III score was 24 including a UPDRS facial expression score of 1. She has been treated with ropinirole...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323201
      Issue No: Vol. 91, No. 12 (2020)
       
  • Incidence and prevalence of Huntington disease (HD) in the Sultanate of
           Oman: the first Middle East post-HTT service-based study

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      Authors: Squitieri, F; Maffi, S, Al Harasi, S, Al Salmi, Q, D'Alessio, B, Capelli, G, Mazza, T.
      Pages: 1359 - 1360
      Abstract: Introduction Huntington disease (HD) is a neurodegenerative, dominantly inherited disorder, which may result in a debilitating movements disorder and cognitive decline with progressive loss of independence. HD frequency in the Middle East has never been defined after the HTT gene discovery and cases of HD have been reported only sporadically.1 In July 2013, Italian League for Research on Huntington Disease Foundation was contacted by a family from Oman, who reported to be affected by HD since many generations. Indeed, that family may represent the largest HD cluster ever described in the Middle East, owing to a high number of intermarriages and subsequent increase in mutation heritability risk. Given the gaps in our knowledge about HD in the Middle East, we took the opportunity to study and determine the incidence and prevalence of HD in this region. Subjects and methods We performed an observational, service...
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-323241
      Issue No: Vol. 91, No. 12 (2020)
       
  • Antiganglioside antibodies in Guillain-Barre syndrome associated with
           SARS-CoV-2 infection

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      Authors: Civardi, C; Collini, A, Geda, D. J, Geda, C.
      Pages: 1361 - 1362
      Abstract: The pandemic SARS-CoV-2 is dramatically spreading around the world. Patients with COVID-19 typically present with viral pneumonia and resultant life-threatening respiratory complications. Although little information is available regarding the neurological manifestations of COVID-19, there are a few reports that describe Guillain-Barré syndrome (GBS) as an acute presentation of SARS-CoV-2.1 2 Here, we report a new case of COVID-19 initially presenting with acute GBS. On 24 March 2020, a 72-year-old woman arrived at the emergency department of our hospital presenting with lumbar pain, lower limb weakness and paresthesia, which started abruptly and progressed within 2 days (table 1). In the previous 10 days she had fever (Tmax 38.5°C, 101.3°F), anosmia, hypogeusia, dry cough and sore throat lasting for 3 days. Neurological examination disclosed symmetric weakness Medical Research Council (MRC) grade 3/5 in both legs and feet and MRC grade 4/5 in both arms and hands,...
      Keywords: COVID-19
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324279
      Issue No: Vol. 91, No. 12 (2020)
       
  • Ischaemic stroke associated with COVID-19 and racial outcome disparity in
           North America

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      Authors: Dmytriw, A. A; Phan, K, Schirmer, C, Settecase, F, Heran, M. K. S, Efendizade, A, Kühn, A. L, Puri, A. S, Menon, B. K, Dibas, M, Sivakumar, S, Mowla, A, Leung, L. Y, Malek, A. M, Voetsch, B, Sehgal, S, Wakhloo, A. K, Wu, H, Xavier, A, Tiwari, A.
      Pages: 1362 - 1364
      Abstract: A retrospective study from the COVID-19 outbreak in Wuhan, China demonstrated an incidence of acute ischaemic stroke of approximately 5% in hospitalised patients with severe disease.1 However, there has been limited evidence on the influence of racial background in stroke outcomes in this pandemic. We report 69 cases of acute stroke in patients positive for SARS-CoV-2, including 27 of African–American background and 42 of other racial backgrounds, including Caucasian, Hispanic and Asian. All patients presented to 14 major hospitals in the USA and Canada, from 14 March 2020 to 14 April 2020. The study was maintained under IRB #s20-00765. All patients had nasopharyngeal swab samples that were positive for SARS-CoV-2 on qualitative reverse-transcriptase-PCR assays. In the following, we present a dichotomised analysis of ischaemic stroke outcomes between patients of African–American background as reported on hospital intake questionnaire versus patients of all other backgrounds. All variables stratified to...
      Keywords: COVID-19
      PubDate: 2020-11-16T03:13:07-08:00
      DOI: 10.1136/jnnp-2020-324653
      Issue No: Vol. 91, No. 12 (2020)
       
 
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