bluuebunny/crossref_metadata_2025_split huggingface dataset:
117  The role of the cerebellum in cortical myoclonus: a neurophysiological study
Authors: Latorre Anna , Rocchi Lorenzo , Rothwell John , Bhatia Kailash 
Published: May 2022

ObjectiveTo investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology.BackgroundPWT is probably the most common form of task-specific tremor. Its pathophysiology is still debated and there is controversy about it being a type of focal dystonia, a variant of essential tremor or a separate entity.MethodsWe recruited 7 patients with PWT, who underwent the following neurophysiological tests: blink recovery cycle (BRC), eye-blink classical conditioning (EBCC), short and long-intracortical inhibition (SICI-LICI). Moreover, motor-evoked potentials (MEP), SICI and LICI were measured pre and post paired associative stimulation (PAS) plasticity paradigm. Data were compared with those obtained in 7 dystonic patients (DYT).ResultsData analysis for BRC showed a similar inhibition between DYT and PWT. There was no difference between DYT and PWT in the number of conditioned response (CR) during. Baseline SICI and LICI were similar in the two patients’ group, but whereas they were unchanged in PWT after PAS, they were reduced in DYT.ConclusionsThe present results suggest that PWT and DYT have similar brainstem excitability and associative learning. Cortical plasticity induced by PAS had a different effect on SICI and LICI in the two groups. Overall this data suggests that PWT and DYT share some pathophysiological mechanisms.a.latorre@ucl.ac.uk
119  NeuroToolkit CSF biomarkers track the progression of Alzheimer’s disease at very early stages
Authors: Molinuevo JL , Salvadó G , Kollmorgen G , Milà-Alomà M , Blennow K , Zetterberg H , Farrar G , Suarez-Calvet M , Gispert JD 
Published: May 2022

IntroductionNeuroToolkit is a set of cerebrospinal fluid (CSF) biomarkers developed to identify Alzheimer’s disease co-pathologies, identify and characterize disease progression and treatment response. We assess the association between NeuroToolkit biomarkers and cerebral amyloid deposition in the ALFA+ cohort [1].Methods326 cognitively unimpaired individuals from the ALFA+ cohort [1] underwent a lumbar puncture and amyloid [18F]flutemetamol PET imaging. Biomarkers in NeuroToolkit (Figure 1) were determined using prototype Roche Elecsys® assays. CSF pTau levels were measured using the Elecsys® CSF assay. We cal- culated cross-correlation values between NeuroToolkit biomarkers and Centiloids. Voxel-wise associations between NeuroToolkit biomarkers and [18F]flutemetamol images were sought, accounting for the effect of various demographics. Additional analyses were performed after correcting also for the Aα42/40 ratio or Centiloid values.ResultsFigure 1. Shows associations between NeuroToolkit biomarkers and Centiloids. NeuroToolkit bio- markers were significantly associated with cerebral amyloid deposition measured by [18F]flutemetamol PET (Figure 2). Correcting for global amyloid deposition, higher levels CSF YKL-40, an astroglial activity marker, were associated to increased cerebral amyloid deposition in the inferior and lateral temporal lobe, in parietal and orbitofrontal areas, and the caudate heads (Figure 3).ConclusionsResults of NeuroToolkit biomarkers support early involvement of the astroglial response to cerebral amyloid deposition.DisclosureThis study was conducted through a collaboration with Roche Diagnostics International. These data will be presented at Advances in Alzheimer’s and Parkinson’s Therapies. Ref: Molinuevo. TRCI 2 (2016) 82–92gwendlyn.kollmorgen@roche.com
125  Complex cortical visual impairments following bilateral occipital infarcts after traumatic brain injury
Authors: Lichtblau Nicole , Rich Philip , Griffin Colette 
Published: May 2022

BackgroundSecondary brain damage following acute traumatic brain injury (TBI) contributes to increased morbidity and disability. Intracranial vasospasm is a less common cause for secondary brain damage. We report a case of a 73 year old man in whom post-traumatic vasospasm lead to bilateral occipital infarction.Case summaryThe patient was admitted with a severe TBI following a fall from height causing bilateral fronto-temporal haemorrhagic contusions. Ten days after admission he developed a fluctuating level of consciousness. Repeat cranial CT and angiography showed new bilateral occipital hypodensities and bilaterally multi-level vessel narrowing in the posterior circulation.The patient suffered from cortical blindness but regained gradually visual perceptual function over the next months. During this time a combination of Balint syndrome (simultanagnosia, oculomotor apraxia and optic ataxia), visual hallucinations and confabulation were observed. Neurorehabilitation was com- plicated by the complex nature of extensive cognitive deficit in combination with the visual impairments but enabled the patient to gain some insight and coping strategies.ConclusionsThis case highlights the complexities of neurorehabilitation following TBI and describes an unusual case of partially reversible cortical blindness. It further highlights the importance of recognising the impact of secondary brain damage after TBI.nicole.lichtblau@nhs.net
128  White matter fibre loss in Parkinson’s disease hallucinations
Authors: Zarkali Angeliki , McColgan Peter , Leyland Louise-Ann , Rees Geraint , Weil Rimona S 
Published: May 2022

Visual hallucinations are common in Parkinson’s (PD) and associated with worse outcomes.1Neuroim- aging shows widespread but non-specific grey matter atrophy in PD-hallucinations1; white matter (WM) loss may be an earlier, more sensitive marker. To detect WM changes in PD-hallucinations we performed diffusion-weighted imaging in 105 patients with PD (n=86 without hallucinations [PD-non-VH], n=19 with hallucinations [PD-VH]), and 35 controls. We performed whole-brain fixel-based analysis,2a novel method that can identify micro- and macro-structural changes at fibre level and examined three measures:apparent fibre density (FD), sensitive to micro-structural changes,fibre bundle cross-section (FC), representing macro-structural changes,combined fibre density and cross-section (FDC).Groups did not differ in age or gender. PD-VH had higher total UPDRS score [63.5±35.6 vs 43.2±20.6 in PD-non-VH, (p=0.003)]; motor scores did not differ. We found macrostructural changes (FC reduction) within the splenium of the corpus callosum and left posterior thalamic radiation in PD/VH. Whilst there were no significant changes in FD, when using the combined FDC metric, we found large reductions within the splenium in PD-VH (>50% reduction compared to PD-non-VH).We demonstrate specific WM tract degeneration affecting posterior thalamic tracts in PD-hallucinations, providing direct mechanistic support for attentional models of visual hallucinations.ReferencesWeil,et al. Visual dysfunction in Parkinson’s disease.Brain2016 Jul 13.Raffelt,et al. Investigating white matter fibre density and morphology using fixel-based analysis.Neu- roimage2017;144:58–73.a.zarkali@ucl.ac.uk
Plasma neurofilament light levels as a novel biomarker for neurological involve- ment in Wilson’s disease
Authors: Shribman Samuel , Heller Carolin , Bocchetta Martina , Burrows Maggie , Gillett Godfrey T , Tsochatzis Emmanouil , Zetterberg Henrik , Bandmann Oliver , Rohrer Jonathan D , Warner Thomas T 
Published: May 2022

BackgroundSerum and urine copper levels are used to monitor chelation therapy for Wilson’s disease (WD) but do not reflect neurological involvement. Biomarkers of end-organ damage are needed to optimise chelation therapy and prepare for clinical trials for gene therapy.MethodsWe measured neurofilament light (NfL) levels in plasma samples, Unified WD Rating Scale (UWDRS) scores and brain volumes on T1-weighted MRI at baseline visits for a longitudinal, observational study. Participants were divided into neurological (n=25) and hepatic (n=15) groups according to UWDRS neurological examination (UWDRS-N) scores. Those with new diagnoses (n=2) or recent neurological dete- rioration associated with non-adherence (n=3) were subcategorised as having active disease. Plasma NfL levels were measured in age-matched healthy controls (n=38) for comparison.ResultsPlasma NfL levels were higher in neurological compared with hepatic and healthy control groups (8.6 vs 7.6 vs 7.6 ng/L, p=0.046) and higher in neurological cases with active disease (22.2 vs 8.3 ng/L, p=0.004). In cases without active disease, they correlated with UWDRS-N scores (p=0.003) and cortical grey matter (p<0.001) but not subcortical grey matter (p=0.071) or white matter volumes (p=0.895).ConclusionsPlasma NfL is a promising biomarker for neurological involvement that, in a small cohort, appears to be associated with neurological disease activity and clinical severity and reflects neuroaxonal injury in cortical grey matter.s.shribman@ucl.ac.uk
143  Catastrophising cognitions in patients with psychogenic non-epileptic seizures compared to patients with epilepsy
Authors: Whitfield Andrew , Walsh Sean , Levita Liat , Reuber Markus 
Published: May 2022

A growing body of evidence suggests more catastrophising cognitions are present in patients with psychogenic non-epileptic seizures (pwPNES) compared to patients with epilepsy (PWE). However, the perseverative aspect of catastrophic thinking including repetitive negative thinking (RNT) has had little attention. In this study pwPNES (n=26) and PWE (n=29) completed self-reported questionnaires including Perseverative Thinking Questionnaire to assess levels of RNT and a modified version of the Safety Behaviors and Catastrophizing Scale to assess catastrophising of seizures. Participants also completed the PHQ-9 and GAD-7 to provide measures of anxiety and depression. Patients with PNES reported significantly higher levels of RNT, catastrophising of seizures, and depression and anxiety than patients with epilepsy. Additionally, the effect of RNT was independent to effects of all other factors in its contribution to PNES suggesting it would serve as a good target for psychological therapy.ajwhitfield1878@gmail.com
146  Epilepsy, deprivation and mortality in Wales 2005–2017
Authors: Daniels H , Lacey AS , Akbari A , Fonferko-Shadrach B , Hollinghurst J , Rees MI , Sawhney IMS , Powell HR , Kerr MP , Owen Pickrell W 
Published: May 2022

BackgroundPublic Health England have recently reported that deaths associated with epilepsy are increasing and are associated with increased deprivation. We investigated comparable Welsh mortality trends and associations between epilepsy mortality and deprivation.MethodWe used routinely-collected health data within the Secure Anonymised Information Linkage (SAIL) Databank. We recorded deaths associated with epilepsy (DAE), epilepsy recorded on death certificates, and deaths in people with epilepsy (DPWE), people with diagnoses of epilepsy and epilepsy prescriptions before death. We compared death rates in different deprivation deciles adjusting for epilepsy prevalence.ResultsDuring 2005–2017 (41million patient-years) there were 2116 DAE and 7821 DPWE. DAE and DPWE increased from 4.3/100,000/yr and 17.2/100,000/yr in 2005–2007 to 5.7/100,000/yr and 20.9/100,000/yr in 2015–2017. The age-standardised mortality rates (ASMR) in 2006–2008 for DAE and DPWE were 5.3/100,000/yr and 20/100,000/yr respectively, in 2015–2017 they were 5.8/100,000/yr and 20/100,000/yr. DAE were not significantly associated with deprivation when adjusted for epilepsy prevalence.ConclusionWhen adjusting for age, deaths associated wtih epilepsy and deaths in people with epilepsy did not increase significantly in Wales between 2005–2007 and 2015–2017. The association between dep- rivation and deaths associated with epilepsy appears to be explained by higher epilepsy prevalence in areas of higher deprivation.w.o.pickrell@swansea.ac.uk
154  Crossed cerebellar diaschisis in refractory epilepsy
Authors: Englezou Christina , Hayton Tom , Chelvarajah R , Hughes S , Sawlani Vijay , Shirley Colin , McCorry Dougal 
Published: May 2022

BackgroundCrossed cerebellar diaschisis is the unilateral depression in functional activity of the cerebel- lar hemisphere, caused by a controlateral supratentorial lesion. The phenomenon arises from disruption of neuronal connections between the cerebrum and the cerebellum.Case reportWe present the case of a 42 year old woman with refractory epilepsy since early childhood. Her epilepsy is characterised by focal seizures with no impairment of awareness, and bilateral tonic- clonic seizures. She is currently on triple therapy with topiramate, gabapentin, and lacosamide. Seizure frequency varies with events occurring at least twice a week. MRI brain showed left mesial sclerosis, and PET CT demonstrated marked reduction in glucose uptake in the left temporal lobe, as well as reduction in uptake in the right cerebellar hemisphere. Scalp videotelemetry captured her events and demonstrated onset from the left fronto-temporal region.DiscussionThe epileptogenic focus was localised to the left fronto-temporal region. The PET CT demon- strated the phenomenon of crossed cerebellar diaschisis. It has been said that the phenomenon shows reversibility, but it is a poor prognostic factor, and it could result in cerebellar atrophy.englezou.chr@gmail.com
158  Non-epilpetic attack disorder admission in the Royal Preston Hospital
Authors: Nwe May , Gall Clarie 
Published: May 2022

BackgroundThere is a high number of non-epileptic attack disorder admission rate in the Lancashire teaching hospital which place a high demand on the service. To reduce the number of admission rate, treatment pathway is needed. If effective interventions are implemented there is a potential for the massive cost savings. It has been mentioned that an effective neurology assessment during the consulta- tion and referring to the physiotherapy and psychological services are ways to treat functional neurology disorders. One study highlighted the potential for psychological interventions as a favourable alternative to the current lack of treatment options offered to people with PNES.MethodsWe collated the data from 27 patients who are coded as NEAD for admission in Royal Preston Hospital in 2018.Result23–52% had an underlying history of psychological problems such as depression, anxiety and per- sonality disorders.57% had re-admission rate elsewhere. Maximum of 90 times admission as an inpatient in the Royal Preston Hospital.maythaenwe@gmail.com
166  A not-to-be-missed mimic of TB meningitis
Authors: Dey Kallol , Das Shyamal 
Published: May 2022

We present a revelatory case of a TBM mimic highlighting the importance of having a wider differential diagnosis of a familiar clinical scenario.A 19-year-old lady presented with high grade fever, vomiting and headache for two weeks. Subsequently she developed blurring as well as double vision. She was transferred from a district clinical facility. On examination, she was emaciated, febrile and delirious. There was divergent squint on the left side. On fundoscopic examination, there was papilloedema. There was generalised muscle wasting and tone was normal.There was no neck stiffness and Kernig’s was negative.The DTRs were 1+, plantars flexor. There was mild hepatomegaly. In view of the clinical profile, empirical anti-TB treatment (ATT) with corticosteroid was started, pending CEMRI brain and CSF study. Her labs showed-Hb 10.3, TLC 11,300, Platelets 160,000, malaria parasite- not found, Dengue IgM-unreactive. Her LFTs showed SGOT 110, SGPT 125, ALP 432, Bili 0.63, Gamma GT- 249. She had a CEMRI brain which showed normal brain parenchyma with mucosal thickening in ethmoid sinus. CSF showed 10 cells (all lymphocytes), glucose 58, protein 100.3, normal ADA, RNA TB PCR negative. IgM Scrub typhus was sent because of prolonged fever and it was reactive. Her ATT was stopped but the steroid was continued. She was started on doxycycline 100 mg twice daily. Her fever resolved and the headaches along with sixth nerve palsy resolved swiftly in 48 hours.drkkdey@gmail.com
Onasemnogene abeparvovec gene therapy for spinal muscular atrophy type 1: phase 3 study update (str1ve-eu)
Authors: Mercuri Eugenio , Baranello Giovanni , Masson Riccardo , Boespflug-Tanguy Odile , Bruno Claudio , Scoto Mariacristina , Servais Laurent , Kauser Imran , Loukes Jonathan , Muntoni Francesco ,   et al
Published: May 2022

Onasemnogene abeparvovec (formerly AVXS-101), a one-time intravenous AAV9-based gene therapy, addresses the genetic root cause of spinal muscular atrophy type 1 (SMA1). We report preliminary data from the phase 3 STR1VE-EU (2017-000266-29/NCT03461289) study evaluating efficacy and safety of onasemnogene abeparvovec infusion. STR1VE-EU is an ongoing, multicenter, open-label, single-arm, single-dose study in SMA1 patients aged <6 months (biallelicSMN1mutations, 1–2xSMN2). Outcomes: independent sitting ≥10 seconds throughout 18 months; survival (no death/permanent ventilation) at 14 months. Enrollment is complete (31 May 2019; N=33, all 2xSMN2). Mean age at dosing: 4.1 (1.4–6) months. Mean baseline CHOP INTEND score: 28 (14–55). Mean time in study: 4.8 (0.4–9.2) months. At baseline, 9/33 (27%) patients required nutritional support and 7/33 (17%) required ventilatory support. Relative to baseline, mean CHOP INTEND score increased 6.4,10.6, and 12.3 points at 1, 3, and 5 months post-dosing, respectively. Overall, 32 patients were surviving without permanent ventilation, including 9/10 patients who reached 10.5 months of age or experienced an event. One patient died (age 6.8 months, hypoxic- ischemic brain injury secondary to respiratory tract infection due to SMA1). Interim data from the ongoing STR1VE-EU study shows that onasemnogene abeparvovec has therapeutic benefit in patients with SMA1.1ik4ausar078@avexis.com
175  Quality improvement: re-structuring the neurology ‘In-hours’ on-call service at North Bristol Trust
Authors: Hodnett Rebecca , Sarkar Pamela , Tan Melissa 
Published: May 2022

IntroductionThe joint ABN and RCP 2011 report advocated for changes in planning of local services to improve access to specialist reviews.1At North Bristol Trust (NBT), we restructured our ‘in-hours’ on-call service to enable early neurology review; as Ali et al.2showed, this alters diagnosis and management in up to 79% of cases referred. These changes include an increase in HOT clinic appointments (rapid access service) and pro-active review of Acute Medical Unit (AMU) patients.MethodFrom 8th August 2019, two registrars have been placed on-call during ‘in-hours’. One is dedicated to referrals and the other runs the HOT clinics and picks up referrals in AMU. Data was collected from an on-call database and processed on Excel.Results>60% reduction in time to review from referralNBT average of time to review at HOT clinic was 3.44 daysNo. of appointments doubled in September compared to June 64% (n=37) of cases were discharged on the day of reviewConclusionsService improvement shown by significant reduction in delay from referral to review in HOT clinicsProactively picking up referrals increase discharges!Reducing length of stay and investigations reduce costs incurredReferenceRCP London and the ABN. Local adult neurology services for the next decade. London: RCP, 2011.Ali E et al. The ‘hidden work’ of a hospital neurologist: 1000 consults later.European Journal of neurology2010 Apr;17(4):e28–32.melissatan095@gmail.com
180  Outcomes of new referrals to neurology clinics with unexplained symptoms: observational study of 208 patients
Authors: Nikfekr Esmaeil , Ball Nicola 
Published: May 2022

IntroductionNHS services are under unprecedented pressure to accommodate more patients. Thirty to 62% of new referrals are patients with non-specific symptoms with estimated cost of approximately 10% of total NHS expenditure in England. This study was conducted to determine prevalence and degree of organocity as well as to characterise neurologically unexplained symptoms in order to explore the feasibility of devising a safe triage system.Method556 new referrals was made in on month to Nottingham neurology services, of which 208 eligible patients were retro respectively evaluated for their first encounter and their outcome was prospectively monitored for 12 months. Based on initial assessment they were divided into three categories of 99 patients with Neurologically Unexplained Symptoms, 79 patients as Somewhat Explained and 30 patients with Neurologically Explained Symptoms.ResultsOut of 99 neurologically unexplained patients 53 were investigated of which only one test was positive revealing an organic cause.Out of 79 patients in the somewhat explained group, 41 patients had tests which led to a diagnosis in 7 patients.Out of 30 neurologically explained patients, 13 required investigations that revealed a diagnosis in 8 patients.There were no cases where unexpected neurological condition was diagnosed during the follow up period in any patient.Conclusion52% of newly referred patients with neurologically unexplained symptoms had normal inves- tigations without contribution to a diagnosis.e.nikfekr@yahoo.co.uk
Parkinson’s disease determinants, prediction and gene-environment interac- tions: a UK Biobank study
Authors: Belete Daniel , Jacobs Benjamin Meir , Bestwick Jonathan P , Dobson Ruth , Hardy John , Giovannoni Gavin , Lees Andrew , Schrag Anette , Noyce Alastair J 
Published: May 2022

IntroductionEarly identification of individuals at high-risk of Parkinson’s disease (PD) may allow for the use of disease modifying treatments. We aimed to define those at risk of incident PD through environmental and genetic risk factors, comorbidities and prodromal symptoms of PD.MethodsWe identified incident cases of PD (n=1276) in the UK Biobank and unmatched controls without a PD diagnosis (n=500,406). Odds ratios for a range of determinants were calculated. A non-genetic model and polygenic risk score (PRS) were constructed. Basic gene-environment interactions were explored.ResultsStrong evidence of association (FDR < 0.05) was found between PD and family history of PD or dementia, not smoking, low alcohol consumption, depression, daytime somnolence, epilepsy and earlier menarche. Individuals in the top PRS decile had an increased risk of PD compared to those in the lowest decline and high scores were associated with an earlier age of diagnosis. There was evidence for a strong interaction between diabetes and PRS.DiscussionWe report the novel finding of a strong association between earlier menarche and increased PD. Analysis of gene-environment interactions found strong evidence that the effect of diabetes is modified by genetic risk. Replication and understanding the mechanism of this observation is an important next step.d.belete@nhs.net
184  Right data, right care
Authors: Biggin Fran , Knight Jo , Emsley Hedley 
Published: May 2022

There is considerable current interest in neurology ‘intelligence’. For example, NHS RightCare uses nation- ally collected data to identify and address variations in care, and the clinically led NHS improvement programme Getting It Right First Time seeks to improve quality of care by reducing variation. Despite this, current neurology ‘intelligence’ strategies lack data on clinic activity because outpatient coding is not routinely done.In order to determine what insights can be gained from routine data, we have analysed data collected at a neurology outpatient clinic (5902 appointments for 3100 patients) offered by one neurologist (HE) over three years.We found clear patterns in variables such as age distributions, interval from referral to appointment by conditions, and geographical source of referral. The data can be presented in a format useful for clini- cians and service managers, allowing identification of opportunities for change such as optimal utilisation of alternative pathways for management of primary headache disorders.In order to be most useful, this type of analysis should be available across all Neurology outpatient services. However various barriers including workforce, non-standardised approaches to outpatient coding, and variation in IT systems hamper implementation. Our ongoing collaborative project seeks to meet these challenges.f.biggin@lancaster.ac.uk