bluuebunny/crossref_metadata_2025_split huggingface dataset:
188  Structural differences in access to neurological healthcare in Northern Ireland: a neurodisparity index
Authors: McCarron Mark , Burns Paul , Forbes Raeburn , McCarron Luke , Mcverry Ferghal 
Published: May 2022

Disparities in management of neurological patients should be minimal in a universal healthcare system. Northern Ireland has one neuroscience centre but no neurology centres. We have devised an easily- applied neurodisparity index (NDI) to measure population equity of neurological healthcare. NDI=number of patients managed per 105 population per Trust/number of patients managed per 105 population of the tertiary centre Trust. NDIs <0.75 and >1.25 were arbitrarily designated as neurodisparities.NDIs were calculated between 2013–2016 for intravenous thrombolysis (eight centres) or mechanical thrombectomy (one centre) for acute ischaemic stroke (AIS), disease modifying drug use for multiple sclerosis (>10 centres) and admissions to a neuroscience neurology ward (n=1) to determine the source and extent of neurodisparity.Amalgamated NDIs for non-tertiary centre trusts were: 0.36 for mechanical thrombectomy for AIS; 0.79 for intravenous thrombolysis for AIS; 1.1 for disease modifying treatment for multiple sclerosis and 0.48 for patient admissions to the tertiary neurology ward. Individual Trust data demonstrated a geographical gradient for mechanical thrombectomy and regional ward admissions.Neurodisparities in Northern Ireland are most marked for mechanical thrombectomy and regional neurology ward admissions. Commissioners should be aware that geography and time-dependent man- agement can exacerbate neurodisparities. Extra resources are required to address such neurodisparities.markmccarron@doctors.org.uk
192  Transitioning: how hard can it really be?
Authors: Kalam Sabrina , Adan Guleed 
Published: May 2022

Transition can be ‘challenging’, requiring rapid acquisition of new skills. Though transition in medicine has been studied, transition from senior house officer (SHO) to neurology registrar (NR) specifically has not.We studied perceptions of NRs on their transition and how core medical training (CMT) impacted this. This was an exploratory study utilising qualitative research methodology. Face to-face interviews were undertaken, gaining in-depth insight into participant perspectives. Four junior NRs in a tertiary teaching hospital in London were interviewed. The data was analysed using inductive thematic analysis.Three major themes were identified: Transition period, role modelling and clinical training. Overall trainees perceived difficulty in transition and expressed need for a formally acknowledged transition period with teaching on transitioning. Trainees expressed requirement for small-group and bedside teaching. Neurology was also perceived as being an under-taught subject in CMT and thus the expert skill and knowledge required at NR level differed from competencies acquired in CMT.The transition from SHO to NR is an understudied area. This was a pilot study undertaken just prior to the introduction of the current internal medical curriculum and highlights need for further study in this area in order to further improve training and transitioning in neurology.sabrina_k2005@hotmail.co.uk
201  Management of an unusual presentation of spontaneous intracranial hypotension (SIH)
Authors: Mohideen Muhammed , Benger Matthew , Mahmood Amira , Hoffman Jan , Goadsby Peter , Stanton Biba , Carlton-Jones Lalani 
Published: May 2022

A 49-year-old woman presented with 9 months of progressive cognitive decline and somnolence. In the last few weeks she developed right hand tremor, unsteadiness and urinary incontinence, which improved after lying flat. There was no headache. Examination findings included vertical gaze restriction, hypomimia, right-sided rest tremor, rigidity and bradykinesia, globally brisk reflexes and an unsteady gait. She scored 50/100 on the Addenbrooke’s Cognitive Examination.Brain MRI showed features consistent with intracranial hypotension with marked ‘brain sag’ but standard imaging did not identify the site of the leak. Two blind blood patches were followed by only transient symptomatic improvement. Initial Digital Subtraction Myelogram (DSM) was non-diagnostic, but repeat DSM identified a leak at C6–7 with an irregular diverticulum/CSF-venous fistula.A CT-guided fibrin patch injected at C6/7 resulted in transient improvement. Finally, a neurosurgical procedure was performed to coagulate the venous plexus adjacent to the C7 nerve root. This effected a dramatic and sustained improvement in her cognitive and motor symptoms.SIH is a treatable cause of cognitive decline and parkinsonism. DSM is a novel approach to localising CSF leaks. This is the first reported cognitive presentation of SIH where identification of a CSF leak with DSM led to successful surgical treatment.saamir.mohideen@nhs.net
203  Outcomes of patients with discordant CSF bilirubin and oxyhaemoglobin xanthochromia Results a retrospective audit
Authors: Day Jacob , Gower Hannah , Gormley Joe 
Published: May 2022

BackgroundInvestigation of headaches for possible subarachnoid haemorrhage frequently involves examination of cerebrospinal fluid (CSF) for xanthochromia. If both CSF bilirubin and oxyhaemoglobin are raised it is suggestive of subarachnoid haemorrhage and if both are negative this is reassuring. However, when one of the CSF bilirubin or oxyhaemoglobin is raised in isolation it is unclear what the risk of suba- rachnoid haemorrhage is.MethodWe performed a retrospective audit of all CSF analyses for xanthochromia in a single centre over a 2 year period in 2016–2018. Of the 403 results, 10 had raised CSF bilirubin or oxyhaemoglobin in isolation. 6 had raised oxyhaemoglobin that could impair the ability to detect CSF bilirubin; 4 had raised CSF oxyhaemoglobin which could be due to blood or other causes.ResultsOverall, there was only 1 confirmed subarachnoid haemorrhage and this was traumatic. Of the 9 other cases, 5 were a primary headache, 1 viral meningitis, 1 viral encephalitis, 1 bacterial meningitis and 1 autoimmune encephalitis. In the 18 months since the end of the audit period no patient has re- presented with subarachnoid haemorrhage.ConclusionWe found no cases of aneurysmal subarachnoid haemorrhage in patients with isolated raised CSF bilirubin or oxyhaemoglobin.jacobday@doctors.org.uk
228  Testing shortened versions of smell tests to screen for hyposmia in Parkinson’s disease
Authors: Auger Stephen , Kanavou Sofia , Lawton Michael , Ben-Shlomo Yoav , Hu Michele , Schrag Anette , Morris Huw , Grosset Donald , Noyce Alastair 
Published: May 2022

BackgroundHyposmia is an early feature in neurodegenerative diseases, most notably Parkinson’s Disease (PD). Using abbreviated smell tests could provide a cost-effective means for large-scale hyposmia screening. It is unclear whether short smell tests can effectively detect hyposmia in patient populations.ObjectivesTo test the ability of short smell combinations to ‘pre-screen’ for probable hyposmia in people with PD and target administration of more extensive tests, such as the University of Pennsylvania Smell Identification Test (UPSIT).MethodsWe assessed the screening performance of a short 4 smell combination previously derived from use of the 40-item UPSIT in healthy older people and its ability to detect hyposmia in a large cohort of PD patients.ResultsThe novel 4 smell combination included Menthol, Clove, Onion and Orange and had a sensitiv- ity of 87.1% (95% confidence interval: 84.9%-89.2%) and specificity of 69.7% (63.3%-75.5%) for detecting hyposmia in patients with PD. A different (also novel) 4-item combination developed using a data-driven approach in PD patients only achieved 81.3% (78.2%-84.4%) sensitivity for equivalent specificity.ConclusionsA short 4 smell combination derived from a healthy population demonstrated high sensitivity to detect those with hyposmia and PD.s.auger@outlook.com
232  Organisational impact of upcoming Huntington’s disease treatments in Europe: resource gaps, access to care
Authors: Pedrazzoli Marco , Ponomareva Marina , Moro Mattia , Townson Louisa , Mukelabai Kopano , Levine Aaron , Nordström Anna-Lena , Guttman Mark , Burgunder Jean-Marc , Reilmann Ralf 
Published: May 2022

Whilst no disease-modifying-therapies (DMTs) are currently available for Huntington’s disease (HD), the investigational drugs most advanced in clinical development are administered intrathecally, requiring additional resources in HD clinics. We investigated the impact of upcoming DMTs for HD on healthcare systems and the implications of possible resource capacity gaps on access to care.The capacity to perform intrathecal drug administrations was assessed in 35 HD specialist centres from nine countries. Interviews with >170 healthcare professionals were performed and resources available in each HD centre were compared to the predicted amount of future resources that the estimated eligible patient population would need.Only 20% of participating HD teams currently have the required resources to perform intrathecal injec- tions: a skilled ‘proceduralist’, one or more nurses to assist in the procedure, and the appropriate space. When considering all resources available in the hospital, only 17% of HD-specialist clinics are estimated to have enough capacity to serve the eligible population. When simulating the additional referral-in of patients from non-HD-specialised clinics, only 6% of HD clinics have enough capacity.To ensure adequate care, capacity-constrained healthcare systems will need to plan adequately and ensure providers have sufficient training and resources to deliver new intrathecally administered DMTs.kopano.mukelabai@roche.com
238  Cogniton and mood disorder in cervical dystonia
Authors: Monaghan Ruth , McCormack Derval , Ndukwe Ihedinachi , O’Riordan Sean , Burke Tom , Pender Niall , Hutchinson Michael , O’Keeffe Fiadhnait 
Published: May 2022

BackgroundCervical dystonia patients have a high prevalence of anxiety and depression which is the main predictor of quality of life. Reports of abnormal cognition in cervical dystonia may be confounded by concurrent mood disorder.AimTo assess the relationships between measures of cognition, mood disorder, disease severity, and quality of life in cervical dystonia.MethodsIn 45 cervical dystonia partici- pants, we assessed clinical measures of disease severity, mood disorder using the Beck Anxiety Inventory and Beck Depression Inventory, quality of life by the Cervical Dystonia Impact Profile and Utility Values from the EQ-5D-5L and administered an extensive neuropsychological assessment battery. The outcomes of clinical and neuropsychological variables were compared between participants with and without signifi- cant mood disorder.ResultsSignificant anxiety and/or depression were reported in 18 participants (40%); 27 participants (60%) had no prevalent anxiety or depression. Significant deficits in executive function were found in participants with mood disorder in comparison to those without mood disorder; otherwise neuropsychological testing showed no between-group abnormalities. Mood disorder significantly cor- related with measures of executive function and quality of life. Abnormal Social Cognition was found in cervical dystonia, unrelated to prevalent mood disorder.ConclusionMood disorder in cervical dystonia is a significant independent predictor of both measures of executive function and quality of life. Other than in Social Cognition, there was no evidence of any primary cognitive impairment in cervical dystonia.mhutchin2@mac.com
Review of the clinical spectrum of typical and atypical Lyme neuroborreliosis in southwest England
Authors: Russell Amy Ross , Petridou Christina , Saeed Kordo , Jeppessen Catherine , Sheridan Elizabeth , Okyere Sharon , Lee Mihye , Dryden Matthew , Lovett Joanna 
Published: May 2022

BackgroundLyme disease is endemic in the UK with a high incidence in southwest England. Neurological involvement occurs in approximately 5% of infected individuals. Previous reviews in southwest England have shown a consistent phenotype in most cases, however anecdotal review suggests a small number of atypical cases, with diverse presentations, which provide a diagnostic challenge, even to experienced neurologists.MethodsWe performed a retrospective, observational study of all identified cases (positive screening ELISA confirmed by immunoblot and neurological symptoms) of neuroborreliosis from six hospitals between January 2015 and December 2017. In addition, we reviewed atypical cases seen over the last decade in the regional neurosciences centre in depth.Results72 patients were included in the observational study. 83% had characteristics of Bannwarth’s syndrome (cranial neuropathy, radiculopathy and CSF pleocytosis). Unusual cases included mononeu- ritis multiplex.Central nervous system involvement was rare. We saw cases presenting with cerebrovascular events, meningitis and encephalitis. Complete resolution of symptoms was reported in 72% of patients. 28% of patients reported residual symptoms, most commonly fatigue and memory problems.ConclusionsThis is the largest UK review of neuroborreliosis. The presentation is usually typical, but atypical presentations vary and can be challenging. The majority of patients recover fully.amyrossrussell@gmail.com
243  Mood disorder affects age at onset of adult-onset cervical dystonia
Authors: Ndukwe Ihedinachi , O’Riordan Sean , Walsh Cathal B , Hutchinson Michael 
Published: May 2022

IntroductionMood disorder is common in cervical dystonia (CD) and may precede the onset of dystonia. There is controversy as to whether mood disorder is part of the primary process or secondary to the disability.We assessed the characteristics of CD patients in relation to a past history of mood disorder.MethodsWe collected demographic data, medical history of mood disorder, and prospectively measured prevalence of mood disorder using the BAI and BDI.ResultsIn 193 patients (128 women and 65 men) mean age at onset of CD was 43.9 years with mean duration, 17.5 years. Men had earlier age at onset of CD than women(p=0.0037). 53/128 (41%) women with a history of a mood disorder had a significantly earlier median age at onset than 75/128 (59%) women without a history of mood disorder (p=0.005). 33(26%) women with mood disorder prior to CD also had an earlier age at onset than the 75(59%) without such a history (p=0.0154). A history of mood disorder was more common in women(41%) than men(31%). 54/128(42%) women and 21/65(32%) men had current mood disorder symptoms.ConclusionsThe significant differences in the age at onset in women with, and without, a history of mood disorder strongly indicates that anxiety and depression are primary non-motor (and premotor) symptoms of CD.ihedinachindukwe@gmail.com
263  Neurofilament light chain is a predictor of outcome after aneurysmal subarach- noid haemorrhage
Authors: Garland Patrick , Morton Matthew , Toombs Jamie , Heslegrave Amanda , Durnford Andrew , Gaastra Ben , Zolnourian Ardalan , Zetterberg Henrik , Bulters Diederik , Galea Ian 
Published: May 2022

BackgroundThe best predictor of clinical outcome after aneurysmal subarachnoid haemorrhage (aSAH) is the World Federation of Neurological Surgeons (WFNS) score. Yet, this marker of early brain injury only explains 12% of the variance in outcome. Prolonged neurotoxicity via extracellular haemoglobin (Hb) may play a role. Neurofilament light chain (NFL) is released during neuronal damage. We hypothesize that CSF NFL predicts clinical outcome after aSAH and reflects Hb-induced neurotoxicity.MethodsCSF was collected via an external ventricular drain from 44 high-grade aSAH patients over 14 days post-ictus, and via lumbar puncture from 11 non-haemorrhagic, non-inflammatory neurologi- cal control patients. NFL and Hb were measured using enzyme-linked immunosorbent assay and ultra- performance liquid chromatography respectively. Clinical outcome after aSAH was assessed using the modified Rankin Score (mRS).ResultsNFL was higher in aSAH versus control CSF. High CSF NFL and high WFNS independently predicted worse mRS. CSF NFL was a stronger predictor than WFNS. Post-ictus, NFL and Hb CSF concentration gradually increased over two weeks. Maximum CSF NFL was correlated with maximum preceding CSF Hb, but not WFNS.ConclusionThe biomarker NFL is a predictor of clinical outcome after aSAH. NFL concentration likely reflects delayed Hb-induced neurotoxicity rather than early brain injury.pg1p07@soton.ac.uk
White matter hyperintensities and brain microbleeds in ataxia-telangiectasia: the Cambridge cohort
Authors: Tiet May Yung , Nannoni Stefania , Horvath Rita , Markus Hugh S , Hensiek Anke 
Published: May 2022

BackgroundIsolated reports indicate the presence of MRI T2 white matter hyperintensities (WMH) and brain microbleeds (BMB) in ataxia telangiectasia (AT), but this has not previously been assessed in a sys- tematic way. We report the MRI brain findings of a large cohort of adults with variant and classical AT.MethodsTwo investigators independently assessed T2-FLAIR, SWI, GRE sequences of 38 AT patients, for WMH using the Fazekas and modified-Scheltens scales, and for probable BMB using the BOMBs scale.ResultsWMH were observed more frequently in variant AT (81.8% vs 58.3% classic), in the periventricular and deep white matter. Modified-Scheltens score was mean 2.29 (range 0- 11, SD 2.46), without signifi- cant differences between classic and variants (p=0.51); our cohort scored between mean 0.32 (range 0–1, SD 0.47) using Fazekas scale (p=0.25).BMB were seen more frequently in classic AT (57.1% versus 4.6% variant, p<0.01, SD 33.80) in cortical and subcortical regions. Three classic AT patients had extensive (>100) BMBs.ConclusionsMild WMH is a common finding in AT, of which the significance is unknown. The presence of BMBs in a large proportion of patients supports the presence of neurovascular abnormalities in AT, which could contribute to the neurodegenerative process or predispose to cerebral haemorrhage.myt29@cam.ac.uk
L-arginine and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS): a systematic review
Authors: Stefanetti Renae , Ng Yi Shiau , Errington Linda , Dlay Jaspreet , Turnbull Doug , McFarland Robert , Gorman Grainne 
Published: May 2022

BackgroundStroke-like episodes are a neurological emergency associated with MELAS syndrome. Recovery from stroke-like episodes occurs over a variable time period (hours to weeks) and no rigorous natural history studies of the condition have been undertaken. Despite this, L-arginine has been adopted as both acute treatment and prophylaxis. We sought to systematically evaluate the evidence for L-argi- nine use.MethodsWe searched 5 databases published between inception and 15/01/2021. The inclusion criteria were 1) use of L-arginine in acute or chronic management of stroke-like episodes; 2) genetically confirmed mitochondrial disease. GRADE was used to assess the quality of evidence. Prospero registra- tion: CRD42020181230.ResultsOf 3,541 articles identified, 37 were eligible (3 open-label, 1 retrospective cohort, and 33 case reports). All studies were rated as very low-quality evidence. Open-label trials reported clinical response based on the subjective improvement of symptoms within 24 hours of treatment. Thirty-seven patients received L-arginine acutely in other studies. Clinical response was reported over variable time points (27/37); though confounders such as anticonvulsants (19/37) were not considered. Efficacy of chronic L-arginine supplementation cannot be established in most studies.ConclusionEvidence for the use of L-arginine in MELAS syndrome is poor, and is associated with a high risk of bias.yi.ng@ncl.ac.uk19
When the rhythm moves you
Authors: Doshi Anisha , Midgley Laura , Kyaw Kaung Myat , Tsarouchas Nicholas , Redmond Ian , Harikhrishnan Sreedharan , Memon Shafqat 
Published: May 2022

A 47-year-old lady presented with a 6-year history of increasing refractory seizures and scoliosis despite trials of multiple anti-epileptic drugs(AEDs). She described seizures of temporal lobe(TLE) semiology provoked mainly by music which evoked elation. These musicogenic reflex seizures (MRS) were occurring up to twice weekly.CT and MRI brain, paraspinal EMG, and routine EEG were unremarkable. Provoked EEG captured a gen- eralised seizure with focal left mid-anterior temporal focus with rapid bilateral spreading within 2 minutes of playing a piece of music and lasted for 90 seconds, followed by a prolonged post-ictal phase. Auto- antibody screen revealed persistently elevated and rising serum GAD-Ab(glutamic acid decarboxylase antibodies) at 11618 U/mL with GAD positive on CSF testing. CT body, PET and transvaginal ultrasound revealed no significant abnormalities. Plasmapheresis was trialled with some effect.We present a rare case of GAD-Ab mediated MRS. MRS are well described, with 9% mediated by GAD-Ab. This mechanistically accounts for the limbic MRS semiology. We highlight the importance of GAD-Ab screening for refractory new onset TLE in an adult, with high serum GAD-Ab titre (≥2000 U/mL) and evidence of intrathecal synthesis. Unlike other immune-mediated epilepsies, GAD-Ab-mediated epilepsy responds poorly to AEDs and may require immunosuppression with rituximab or cyclophosphamide.References1. Kaplan, 2003; Falip et al., 2018, 2019; Tseng et al., 2018; Dade et al., 2020; Jesus-Ribeiro et al., 2020anishadoshi@doctors.org.uk|ABN Bursary
A localisation issue
Authors: Midgley Laura , Broad Rebecca , Poole Olivia , Flores Lorena , Harikrishnan Sreedharan , Lauckaite Kristina , Moran Nicholas 
Published: May 2022

A 65 year old lady presented with a one week history of chorea, dysarthria, behaviour change and imbalance. Her condition continued to progress with development of a motor axonal polyneuropathy, affecting mainly the distal upper limbs, and encephalopathy, with a Glasgow Coma Score (GCS) of 6.MRI head revealed non-specific white matter changes in the cerebral hemispheres. EEG showed a slow background and bifrontal triphasic waves. CSF testing revealed a lymphocytic pleocytosis (34/mm3) with elevated protein (0.88g/L). Extensive microbiological, genetic and autoimmune screening was negative other than positive IgLON5 antibodies (titre 1:1000).Treatment with intravenous methylprednisolone appeared to be unhelpful, however, plasma exchange was associated with resolution of the encephalopathy and distal upper limb weakness. Intravenous cyclophosphamide was given followed by oral mycophenolate. The patient remains clinically stable at one year after onset.Anti-IgLON5 disease is typically characterised by central nervous system involvement (sleep disturbance, chorea, gait imbalance and bulbar features) and an uncertain response to treatment. We have presented a case of this rare condition, unusual on account of the peripheral involvement (motor axonal polyneu- ropathy), and apparent improvement with immunosuppression.Laura.midgley1@nhs.net