bluuebunny/crossref_metadata_2025 huggingface dataset:
005 Unusual cerebellar stroke mimic with ATP1A3 mutation
Authors: Ahmed Fuhad , James MacDougall Niall John
Published: March 2023

A 44-year-old female with known generalized epilepsy presented having fainted two hours after a mild allergic reaction. Following the syncopal episode she had fixed unilateral cerebellar signs consistent with stroke.

Examination revealed left sided cerebellar ataxia, past pointing and dysdiadochokinesis. MRI showed mild cerebellar atrophy with no focal lesions. EMG was unremarkable. CSF was normal.

Her daughter (age 7) has symptoms of progressive ataxia, morning tremor, and dysarthria. An ataxia 98 gene panel revealed an autosomal dominant mutation of ATP1A3, with a heterozygous variant for c.2267G>A p. (ARG756His). This pathogenic variant allowed a diagnosis of ATP1A3-related condition for the daughter with subsequent identification of the same variant gene mutation in ATP1A3 in our patient.

ATP1A3-related neurologic disorders represent a rare clinical continuum with three distinct phenotypes; rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). Some individuals have intermediate phenotypes or limited features that do not fit a major phenotype.

Here the phenotype varies between mother and daughter as our patient has overlapping symptoms of CAPSOS and RDP. The hyperacute onset of a cerebellar syndrome is notable. The diagnosis was only possible with knowledge of her daughters’ condition.
12.15 Distinguishing neurosarcoidosis from multiple sclerosis based on cerebrospinal fluid analysis: a retrospective cohort study
Authors: Arun Tarunya , Pattison Laura , Palace Jacqueline
Published: March 2023

Introduction

Neurosarcoidosis is a great mimicker and distinction from multiple sclerosis can be troublesome. This study characterises a cohort of neurosarcoidosis patients with focus on CSF analysis and whether this could help distinguish these two conditions.

Methods

We enrolled 80 patients with a diagnosis of neurosarcoidosis based on stringent diagnostic criteria. The CSF and serum oligoclonal IgG patterns after iso-electric focusing were compared.

Results

80 patients had a probable or definitive diagnosis of neurosarcoidosis. MRI findings were leptomeningeal enhancement (35%) and white matter and spinal cord involvement (30% and 23%). PET was positive in (62%) of isolated neurosarcoidosis. CSF analysis showed that oligoclonal bands were rare (3% had CSF alone,11% with mirror pattern). No patient with definite neurosarcoidosis had CSF oligoclonal bands. Only 14% of patients with definite neurosarcoidosis had elevated serum ACE, CSF ACE was absent in all.

Discussion

Large elevations in CSF protein, WCC and ACE occur in neurosarcoidosis, but are rare in MS. However, minimal changes may occur in both conditions. Intrathecal oligoclonal IgG is a powerful discriminator as it is rare in neurosarcoidosis but common in MS (95–98%). We suggest caution in making a diagnosis of neurosarcoidosis when intrathecal oligoclonal IgG synthesis is found.
006 Quality improvement: management of myotonic dystrophy patients in tertiary care centres
Authors: Odunsi Sola , Roberts Mark , Lilleker James , Bentley Andrew , Felton Tim
Published: March 2023

Background

Myotonic Dystrophy type 1 is an inherited multisystem disorder with a European prevalence of 3–15 per 100,000. Cardiorespiratory complications (e.g. arrythmia, respiratory failure) account for around 70% of early deaths. In many cases this could be prevented though periodic screening and timely intervention, including with pacemakers or non-invasive ventilation, where indicated.

Recently, international consensus-based care recommendations have been published with a view to reduce mortality by improving quality and standardising care for patients with Myotonic Dystophy type 1. We hypothesised that nationally, adherence to these recommendations is likely to be poor.

Methods

We audited the care of patients with Myotonic Dystrophy type 1 at the Manchester Centre for Clinical Neuroscience (MCCN) and the University Hospital South Manchester (UHSM) Ventilation Clinic against consensus-based care recommendations. A data collection proforma was created based on the recent care recommendations. Retrospective case note review was performed.

Results and conclusion

Data collection and analysis is ongoing. Full results will be presented at the conference along with a quality improvement action plan. These results will also feed in to a planned redevelopment of tertiary neuromuscular services in the region.
007 Simple steps to prevent CSF sample errors in neurological emergencies
Authors: Jensen Melanie P , Auger Stephen D
Published: March 2023

Objective

To minimise the rates of avoidable error in the collection, processing and documentation of cerebrospinal fluid (CSF) samples acquired to investigate neurological emergencies.

Methods

To identify common and avoidable sources of error, CSF samples sent for suspected subarachnoid haemorrhage or bacterial meningitis were considered retrospectively. A total of 30 CSF samples were sent between May and September 2018 from the Whipps Cross University Hospital Acute Admissions Unit. Based upon the sources of error identified, a series of interventions were devised to minimise future error. Error rates were reassessed between December 2018 and May 2019 after implementation of each intervention, over 2 ‘PDSA’ cycles.

Results

Avoidable sample processing errors (e.g. under-filled bottles, inadequate requests) were reduced by a simple information sheet introduced to lumbar puncture (LP) packs. Deficiencies in documentation of LP procedures were overcome with the introduction of a structured computer template to be filled out after each procedure. Length of admission reduced from an average of 79 hours (pre-implementation) to 43 hours (after cycle 2).

Conclusions

Three straightforward, ‘one-off’ and easily reproducible interventions led to considerably reduced rates of error in the processing and documentation of CSF samples for acute neurological emergencies.
011 An anatomical approach to the immobile tongue
Authors: Rajagopal S , Samra K , Athauda D , Porter MC , Lau M , Stern W , Spillane J , Holmes P , Roy A , Howard R
Published: March 2023

An immobile or fasciculating tongue is an unusual finding in isolation. Its presence generally indicates a problem with the hypoglossal nerve which controls all the intrinsic and extrinsic muscles of the tongue except the palatoglossus and has five segments; the medullary, cisternal, skull base, carotid space and sublingual. This case series discusses five patients who initially presented with isolated hypoglossal nerve palsies. In each patient the lesion localised to a different segment of the nerve with clear imaging confirmation to support their respective causes. The cases (in anatomical order) include hypoglossal nerve damage as a complication of over-shunting in a patient with idiopathic intracranial hypertension, hypoglossal chronic inflammatory demyelinating polyneuropathy, hypoglossal canal fracture, glomus tumour and tongue malignancy. These cases highlight the broad range of differential diagnoses that should come to mind when assessing a patient with poor tongue movement, wasting and or fasciculation. A structured, anatomical approach to lesions of the hypoglossal nerve is fundamental to accurate diagnosis.
015 Beware the spasm: tonic spasms as the sole presenting feature in neuro-inflammatory disorders
Authors: McWilliam Matthew , Sivagnanasundaram Jananee , Harikrishnan Sreedharan
Published: March 2023

Painful tonic spasms are brief recurrent episodes of increased muscle tone and abnormal posturing that can affect one or more limbs at a time. They can be extremely debilitating if not identified early.

We describe two cases with different underlying disease entities, in which this was the only initial presenting symptom.

The first case was a 73-year-old guitarist, whose painful tonic spasms cut short his band’s tour and also caused him to sustain a vertebral fracture. MRI whole spine revealed multiple short segments of T2 high signal. He was diagnosed with an acute myelitis and his spasms responded well to carbamazepine.

The second case is a 66-year-old-lady who had months of severe prolonged tonic spasms. Later that year she developed an area postraema syndrome and months later a right optic neuritis. MRIs of the neuroaxis were normal during the initial few years of presentation. A diagnosis of neuromyelitis optica was established once aquaporin-4 antibody was confirmed as positive and her spasms improved spontaneously.

These cases highlight the diagnostic challenge posed by an isolated presentation of painful tonic spasms. Early recognition can aid timely treatment initiation and investigation with aquarporin-4 antibody and MR imaging, to establish the underlying cause.
016 Bing-neel syndrome presenting with headache and TIA-like symptoms
Authors: Azzopardi Laura , Banerjee Gargi , Chandratheva Arvind
Published: March 2023

Migrainous headaches and transient ischaemic attacks are amongst the commonest acute neurological presentations seen in the UK. Our case highlights a rare complication of a rare disorder presenting as a mimic for these common neurological conditions.

A 68 year-old woman presented with gradual onset severe frontotemporal headache with vomiting, mild photophobia and transient aphasia. Previously, she had experienced episodes of sudden onset left arm weakness and numbness spreading to the face, associated with complete aphasia, lasting for ten minutes. Examination was unrevealing.

Contrast head MRI showed enhancing leptomeningeal disease. An IgM kappa paraprotein was detected in serum, with a lymphoplasmacytic lymphoma diagnosed on bone marrow aspirate/trephine. CSF was highly cellular containing a population of predominantly CD20+ lymphocytes, in keeping with a B-cell lymphoplasmacytic lymphoma infiltrating the leptomeninges. A diagnosis of Waldenstrom’s macroglobulinaemia (WM) presenting with Bing-Neel syndrome was made. She was started on chemoimmunotherapy with MATRix regimen.

Bing-Neel syndrome is a rare complication of WM that results from infiltration of the central nervous system, and rarely peripheral nervous system, by malignant lymphoplasmacytic cells. Neurological manifestations are diverse and protean. The diagnosis should be considered with unexplained neurological symptoms in the presence of macroglobulinaemia.
022 Bilateral tapia’s syndrome following complication from coronary angiography – a case report
Authors: Shi Jiaqi , Cahill Varduhi , Jacob Saiju
Published: March 2023

Background

Tapia’s syndrome is very rare and manifests from concurrent recurrent laryngeal nerve and hypoglossal nerve palsies, often following general anaesthesia. It is commonly characterised as dysphonia, tongue dysmotility with dysarthria and dysphagia. This usually presents after orotracheal intubation and the mechanism of injury is thought to occur from over stretching of both the vagal and hypoglossal nerves at either the transverse process of the first cervical vertebra, or over the wall of the pharynx. Typically the deficit is temporary with anticipated full recovery. Diagnosis is clinical and requires exclusion of central causes with imaging, which includes contrast CT and MRI. A multidisciplinary approach is essential and treatment is supportive. Around one-third of the patients will achieve full resolution.

Case report

A case of a 60 year old man is described, who suffered intraoperative complication and required emergency coronary artery bypass graft surgery after an elective angiogram. He was diagnosed with Tapia’s syndrome 3 weeks post-operatively, when he was found to have left sided tongue atrophy, and bilateral vocal cord palsy after extubation. No other neurological features were noted and further imaging did not reveal any central causes for vocal cord palsy. He was discharged home after a gradual improvement with supportive therapy that included a tracheostomy insertion.
026 The walton centre integrated neurology nurse service
Authors: Fletcher Nicholas , Vallance Lydia , Riley Julie , Nicolson Andrew , Wilson Martin
Published: March 2023

A training program was developed for an integrated neurology nurse service (INNS) dealing with common issues in long term neurological conditions, particularly Parkinson’s disease, MS, epilepsy and MND. After a successful pilot scheme, the INN team was increased from one to seven nurses. From 2017 to 2018, 1452 patients were seen in INN community clinics and 937 at home. Each week, INNs provided 34 clinics at 27 community locations plus 13 telephone clinics and (where necessary) domiciliary and care/nursing home visits. INNs also visit 7 local A&E departments to advise on pathway utilisation, neurological management and offer clinical review of frequent neurological attenders. Training (for example emergency management of seizures) is also provided in the community. INNs liaise with other agencies regarding social care, appliances, physiotherapy, occupational therapy, speech and language therapy, continence services or district nursing. They can also quickly obtain advice from the patient’s WCFT consultant. The INNS was well received; 96% of patients were satisfied or very satisfied with their experience; 67% that the INNS empowered them to make decisions about their health care; 86% that the INNS strengthened shared decision making; 96% reported increased physical and emotional support and 82% that the INNS helped communication between patients and specialist neurology nurses. INNs can work effectively in the community to support patients and reduce demand on primary and secondary care.
029 Importance of face-to-face consultation in complex decision-making
Authors: Nicholas Richard , Solari Alessandra , Wilkie David
Published: March 2023

Recent focus on self-care and telemedicine have challenged the role of face-to-face consultations in medicine. Disease activity, national guidelines, life goals e.g. pregnancy, multiple therapies and varying side effects need to be considered on starting disease modifying treatments in multiple sclerosis (MS). We studied the factors driving decisional conflict (DC), a measure of a decision satisfaction in people with (pw)MS making this decision.

Methods

Antecedents, features and outcomes of the consultation were measured in pwMS attending clinics who were making decisions about treatment. The SURE scale for DC was the primary outcome.

Results

The patient activation measure (PAM) was the only antecedent prior to the consultation associated with DC (n=72, Adjusted R2 0.062, p=0.020). In the consultation shared decision making (SDM) (p=0.000) and PAM (0.043) were both drivers of DC (n=67, Adjusted R2 0.383, p=0.000). In turn the significant factor associated with the SDM score from within the consultation was satisfaction with the health care professional (HCP) (n=68, Adjusted R2 0.220, p=0.000).

Conclusions

Patient engagement impacts DC but the HCP delivering the optimal shared decision-making approach is also significant in reducing DC. In complex decisions there is a clear role for the face-to-face consultation in current practice.
030 Automating clinical audit in neurology
Authors: Middleton R , Lacey A , Pickrell WO , Fonferfko-Shadrach B , Pearson O , Marta M , McDonnell G , Thompson SE , Ford DV , Nicholas R
Published: March 2023

Background

Extracting data from healthcare records is essential for clinical and research purposes but can be labour and time intensive. We developed a natural language processing (NLP) application to automatically extract meaningful data from routinely-generated multiple sclerosis (MS) clinic letters.

Method

We developed the system using the open source platform GATE (General Architecture for Text Engineering) and a training set of 100 manually annotated MS clinic letters. The system extracts information from each clinic letter including: MS diagnosis and type, Extended Disability Status Scale (EDSS) score, current and previous Disease Modifying Therapies (DMT), walking distance, and MRI information.

For initial validation, we used 250 MS clinic letters. We compared the systems performance in extracting MS diagnosis, EDSS score and current and previous DMTs with human annotation. We recorded precision (proportion of extracted items that are accurate), recall (proportion of items that are extracted) and F1-score (harmonic mean of precision and recall).

Results

(see poster)

Conclusion

NLP can be used to automatically extract specific information from MS clinic letters and has the potential to transform clinical practice and research at a large scale.
11.27 Understanding variability in UK acute neurology services: what works, and what doesn’t?
Authors: Best Jonathan , Kamourieh Salwa , Mummery Cath
Published: March 2023

Background

The 2017 ABN Acute Neurology Survey showed acute neurological services in the United Kingdom to vary widely, even between otherwise-similar departments. Focussing on positive outliers, we conducted qualitative research to understand this.

Methods

Through the 2017 survey, we identified DGHs and neurology/neuroscience centres which indicated high overall acute neurology service provision or outstanding performance in a particular area. From 39 hospitals meeting our criteria, we asked 15 clinical leads from throughout the UK to complete a questionnaire on their service model and development. We also analysed free text comments from the 2017 survey.

Results

We received 9 responses, 6 from DGHs. Successful innovations included a neurology take, seven-day consultant-delivered reviews, and an ‘acute neurologist of the week’. Respondents viewed a well-functioning acute clinic as important, and we profiled how this was achieved. In DGHs, acute care was mainly delivered by consultants, who described heavy workloads.

Of 120 comments from the 2017 survey, 37.5% described acute clinic arrangements. Overbooking of urgent patients into routine clinics was common. After this, the most frequent themes were understaffing (13.3%) and excessive workload (10%).

Discussion

Our qualitative data identifies difficulties facing UK acute neurologists, and highlights successful approaches which may inform future service development.
036 mHealth in traumatic brain injury: a systematic review of the app markets and the literature
Authors: Christopher Edward , Alsaffarini Kareem , Jamjoom Aimun
Published: March 2023

Background

Traumatic brain injury (TBI) carries a high morbidity and mortality. It has been suggested that the practice of providing healthcare support via mobile technologies i.e. mobile health (mHealth) can considerably alleviate the global burden of TBI. However, the current landscape of mHealth and the evidence surrounding their use in TBI has not been defined and critically appraised.

Methods

We systematically reviewed the mobile app markets (iOS and Android) and the literature for TBI-focused apps and studies investigating the use of mHealth in TBI. We extracted and analysed data from the apps and studies that met our inclusion criteria. Results are reported as median (interquartile range). Full study methodology is available from PROSPERO (CRD42018107386).

Results

53 apps met our inclusion criteria. The top three functions were TBI screening (34.0%), education (28.3%) and biomechanics monitoring (20.8%). Median number of downloads was 300(75–3000). 8 studies met our inclusion criteria. Most (62.5%) were either case series or case report with only one (12.5%) randomised controlled trial. Median number of TBI patients involved in the study was 7(1–43).

Conclusion

There is a disproportionately small number of TBI-focused apps. Their uptake is limited and the evidence surrounding the use of mHealth in TBI particularly remains low at present.
039 Functional cognitive disorders: prognosis
Authors: Elhadd Kariem , Bharambe Viraj , Larner AJ
Published: March 2023

Objective

To assess 6-month outcomes of patients diagnosed with functional cognitive disorders (FCD) in a dedicated cognitive disorders clinic based in secondary care. A cohort of patients diagnosed with FCD (Neurodegener Dis Manag 2018;8:377–83) were contacted by telephone (maximum three attempts) 6 months after diagnosis, and administered the same subjective memory complaints (SMC) Likert scale assessing metamemory as administered at the initial clinic visit.

Results

Of 51 FCD patients, 44 had baseline SMC Likert and 29 provided follow-up data (57% of whole cohort, 66% of those with baseline data). Of these 29, 16 (55%) gave the same self-rating on SMC Likert, 11 (38%) higher, and 2 (7%) lower than at baseline. Only 5 patients changed category, all from SMC+ (self-rating memory poor or fair) to SMC- (self-rating memory good, very good or excellent). The null hypothesis that the proportion of SMC+ patients did not differ significantly between baseline (27/29=93%) and follow-up (22/29=76%) was not rejected (Z=1.81, 0.1 > p>0.05).

Conclusions

Whilst some patients with FCD may improve spontaneously over six months, perhaps reassured by the finding of no neurodegenerative disorder, the majority remain unchanged as judged by a brief measure of metamemory.
042 Hydrophilic polymer embolisation causing subacute dementia
Authors: Raza Naheed , Fernandez Peter , Moreton Fiona , Chandran Siddharthan
Published: March 2023

A 64-year-old woman presented with a 6-week history of progressive cognitive impairment and social withdrawal. Examination showed right homonymous hemianopia, left-right disorientation, astereognosis and dyspraxia. 3 months previously she had suffered a Grade I subarachnoid haemorrhage secondary to a ruptured anterior communicating artery aneurysm. This was treated with endovascular coiling. She initially recovered well but developed difficulties with activities of daily living and impaired memory over the following weeks. MRI brain revealed a multitude of enhancing foci associated with surrounding white matter hyperintensities and oedema throughout the left hemisphere. The imaging was consistent with hydrophilic polymer embolisation. She was treated with IV methylprednisolone followed by a tapering regime of oral steroids and azathioprine. There was a gradual but incomplete improvement in imaging and clinical findings over 6 months. We believe this is the first case of subacute dementia resulting from polymer coated emboli. Hydrophilic polymer embolisation remains an elusive and potentially under diagnosed phenomenon associated with a range of adverse clinical sequelae which may occur throughout the body. It may be on the rise due to an increasing trend towards minimally invasive and novel drug delivery systems.
047 An unusual cause of psychosis
Authors: Mohamed Ahmed Mubarak , Blackburn Daniel , Iqbal Ahmed , Prasad Suveera
Published: March 2023

A 24 year old woman was referred with a 3/52 history of headaches, memory problems, paranoia and confabulation.

Examination was normal. AMT was 8/10. CT head and CSF were unremarkable. She self-discharged before an MRI. She was felt to have capacity.

Four weeks later the psychiatry team sought advice reporting worsening symptoms. This patient was held under section. She reported significant headache, an unusual feature of a primary mental health problem.

Anti NMDA of the serum and CSF were arranged (negative) an EEG did not show any concerning findings.

During the hospital stay she managed to sneak off twice and was bought back by the police as it was felt that she lacked capacity.

MRI revealed a pituitary microadenoma. She was assessed by Endocrinology. Extensive investigations concluded a diagnosis of ‘Cushing disease’. Metyrpaone was administered for Cortisol suppression. Tansphenoidal surgery took place after.

On subsequent clinic visits, gradual improvement in the symptoms was reported until ultimately she was completely back to her normal self (around 2/12 post-surgery).

Discussion

Psychosis is a rare feature of Cushing disease.1This case demonstrates the diagnostic difficulties in these cases and the need of involvement and collaboration of different specialties for diagnosis and management.

References

McCallum RW, Parameswaran V, Duffield A, Hoffman L, Burgess JR, Greenaway T. Cushing’s disease presenting as a Schizophreniform psychosis.Endocrine Abstracts(2006):11;P117.
049 Characterising behaviour in behavioural variant frontotemporal dementia and semantic dementia
Authors: Heartshorne Rosie , Jones Matthew , Kobylecki Christopher , Snowden Julie S , Thompson Jennifer C
Published: March 2023

Frontotemporal dementia (bvFTD) and semantic dementia (SD) are canonical syndromes associated with frontotemporal lobar degeneration. Change in behaviour is the cardinal symptom in bvFTD but is also observed in SD. We aimed to identify behaviours specific to each of these conditions and explore correlations between behaviours and regional atrophy.

We performed retrospective analysis of clinical data in 84 patients with bvFTD and SD presenting to a tertiary cognitive neurology clinic. Behaviours were rated on an internally developed proforma, and a visual rating scale was used to grade atrophy on MR scan. A chi-squared test was used for comparative analysis of behaviours and Spearman’s Rank Correlation Coefficient for imaging and behaviour.

Blunted affect, poor self-care, and loss-of-empathy were highly specific to bvFTD (P<0.001). Loss-of-empathy correlated with orbitofrontal and dorsolateral frontal cortical atrophy (<0.05). Food fads (P=0.003) and number games (P=0.001) were highly specific for SD. Food fads were associated with left anterior fusiform atrophy (P=0.004), and number games with posterior temporal atrophy (P<0.05).

This study identified certain behavioural features specific for each syndrome, which has implications for accurate diagnosis. Behaviours specific to bvFTD were associated with regional frontal atrophy, whereas those seen in SD correlated more strongly with temporal atrophy.
050 Western blot analysis of KPNA4 and its relevance to nucleocytoplasmic transport dysfunction in ALS/FTD
Authors: Zatorska Anna , Solomon Daniel , Hortobagyi Tibor , Hirth Frank
Published: March 2023

ALS and FTD are progressive neurodegenerative diseases, often characterised by cytoplasmic aggregation of TDP-43. Nuclear import of TDP-43 occurs via the classical pathway in which karyopherin alphas (KPNAs) act as adaptor proteins. KPNA4 has been identified as the strongest interactor of TDP-43, and karyopherins co-localise with the aberrant cytoplasmic aggregates in ALS/FTD.

This study explored how KPNA4 is affected in the spinal cord of sporadic-ALS (n=8), C9ORF72-ALS cases (n=7) as compared to control (n=6) and in the frontal cortex of sporadic-FTD (n=8), C9ORF72-FTD (n=8), and Tau-FTD (n=8) as compared to control (n=8). Quantitative western blotting was used to analyse whether KPNA4 differed between the protein samples from post-mortem tissue.

Soluble levels of KPNA4 were significantly lower in the spinal cord of sporadic-ALS patients compared to control (D=0.4321, CI= 0.124–0.7401, p=0.0086), in the frontal cortex of sporadic-FTD patients compared to control (D=0.258, 95% CI=0.065–0452, p= 0.01) and in the frontal cortex of Tau-FTD patients compared to control (D= 0.22, CI= 0.03–0.42, p= 0.022) but not in C9ORF72 ALS/FTD.

The results show a statistically significant downregulation of KPNA4 in sporadic ALS/FTD and Tau-FTD, suggesting KPNA4 could be forming insoluble aggregates or that the translation of KPNA4 mRNA may be reduced.
051 Novel patient pre-screening model improves patient recruitment and reduces screen-failure rates for AD clinical trials
Authors: Dobson Lucianne , Rosa-Grilo Miguel , Mummery Catherine
Published: March 2023

Rapid recruitment of participants is essential for the execution of clinical trials in Alzheimer’s disease (AD). Our objective was to improve site-led recruitment and screen-failure rates for clinical trials in AD by developing a novel patient pre-screening model. Information relating to sources of patient pre-screening activities was collated from recruitment data sources across two interventional and eight observational clinical trials in AD. The most efficient sources of recruitment were via the Cognitive Disorders Clinics, Join Dementia Research (JDR) website and referrals across research teams within the department. Adaptations to the patient identification and pre-screening processes led to a significant increase in identification of patients and recruitment to studies: 800% increase in patient identification and 430% increase in patient enrolment 2015–2018. Our model has also been consistently shown to decrease screen-failure rate (IONIS MAPTRx trial - local screen-fail rate of 40% compared with 70% rest of the world; ENGAGE - 50% screened were randomised locally compared with 27% globally). We have developed a novel pre-screening model which we have shown to consistently increase patient identification numbers, improve recruitment and decrease screen-failure rates. Implementation on a wider scale could significantly reduce costs and delays incurred by the majority of AD clinical trials.
054 Dementia mortality in wales: a population-based e-cohort
Authors: Wilkinson Tim , Schnier Christian , Akbari Ashley , Orton Chris , Lyons Ronan , Sudlow Cathie
Published: March 2023

Background

The Secure Anonymised Information Linkage Dementia e-Cohort (SAIL-DeC) is composed of anonymised, linked, routinely-collected healthcare datasets for the population of Wales. We used this population-based e-cohort to investigate dementia mortality.

Methods

SAIL-DeC uses a validated algorithm to identify all-cause dementia cases from coded primary care, hospital admissions and mortality datasets. We ascertained death dates and causes from mortality data. For dementia cases, we calculated median survival (stratified by 10-year age categories), identified the underlying causes of death and compared 10-year survival rates to people without dementia.

Results

From 1.2 million participants, 129,650 developed dementia. Of these, 102,388 died during follow-up. Median age at dementia diagnosis was 82 years. Median survival after diagnosis was 12.3 years for ages 50–60, 6.8 years for ages 60–70, 4.2 years for ages 70–80 and 2.4 years for ages 80–90. Ten-year survival rates for dementia cases were lower than those without dementia. The most common recorded underlying causes of death were Dementia/Alzheimer’s disease (34%), stroke (13%), ischaemic heart disease (IHD) (9%), influenza/pneumonia (6%) and chronic respiratory diseases (3%).

Conclusion

Mortality in dementia cases is higher than non-cases across all ages. The leading causes of death amongst people with dementia are stroke, IHD and respiratory diseases.
055 The digital doctor: a fully automated stratification and monitoring system for patients with memory complaints
Authors: O’Malley Ronan , Mirhedari Bahman , Harkness Kirsty , Reuber Markus , Venneri Annalena , Christensen Heidi , Blackburn Daniel
Published: March 2023

Introduction

Referrals to specialist memory clinics have increased out of proportion to the incidence of dementia. Time and financial pressures are consequently exerted on a service striving to deliver high quality care. We have developed a fully automated ‘Digital Doctor’ with the aim of providing pre-clinic risk stratification and ongoing monitoring for patients with memory concerns.

Methods

We recruited 15 participants with Functional Memory Disorder (FMD), Mild Cognitive Impairment (MCI) and Alzheimer’s disease each as well as 15 healthy controls. Participants answered 12 questions posed by the ‘Digital Doctor’. Audio and visual data is analysed using diarization and automatic speech recognition tools and machine learning classifiers.

Results

The ‘Digital Doctor’ can distinguish between neuro-degenerative dementia and FMD with an accuracy of 95%. We will have results of a 4-way classification accuracy (HC, FMD, MCI & AD) at time of conference.

Discussion

We demonstrate the potential value of the ‘Digital Doctor’ as a stratification and triage tool. Accuracy will be improved with greater number of users and inclusion of fluency and picture description data. Patients at low risk could avoid the burden of a clinic appointment, whilst patients with higher risk could benefit from a more streamlined service.
060 Fulminant meningitis as a presenting feature of anti-NMDA receptor encephalitis
Authors: Stavrou Maria , Yeo Jing Ming , Slater Alexander David , Irani Sarosh , Foley Peter
Published: March 2023

Anti-NMDA receptor encephalitis is a well-recognised immunotherapy-responsive condition which often occurs as a paraneoplastic phenomenon. A typical presentation is in a young individual with a viral-like prodrome followed by the development of severe psychiatric symptoms, memory loss, seizures, reduced consciousness and sometimes orofacial dyskinesias, and progression to autonomic and respiratory instability. Fulminant meningitis is a very rare presenting feature of anti-NMDA receptor encephalitis with our literature search only revealing one other reported case.

We present a case of a 33-year old Caucasian woman who initially presented with lymphocytic meningitis but subsequently developed clinical and investigative features consistent with anti-NMDA receptor encephalitis. Through this case, we aim to present and discuss possible mechanisms1–3underlying this atypical presentation and to highlight frank meningitis as an atypical presenting feature of anti-NMDA-receptor encephalitis. Clinicians should consider autoimmune encephalitides in individuals with meningitis, particularly where extensive investigations fail to identify a causative micro-organism and there is rapid development of an encephalitic phenotype. A multidisciplinary approach is required to address the neurological, gynaecological, oncological, and neuropsychiatric aspects of this challenging and incompletely understood disorder.

References

Bektaş Ö, et al.Neuropediatrics2014;45(6):396–401

Irani SR, et al.Brain2010;133(Pt 6):1655–67

Dalmau J, et al.Lancet Neurol2008;7(12):1091–8
061 Management of NMDA-receptor encephalitis on the neurological ICU
Authors: Brown Rachel , Spillane Jennifer , Lunn Michael , Radcliffe Jeremy , Zandi Michael , Kullmann Dimitri , Howard Robin
Published: March 2023

Admission to the intensive care unit (ICU) is frequently required for the safe management of patients with anti-NMDA receptor encephalitis (NMDARE). Here, we present 22 patients (18 female, median age 28, range 17–59) with seropositive NMDARE, admitted to our neurological ICU between 2006- 18. Most commonly, patients were admitted following intubation and sedation for seizures/status epilepticus (7), depressed GCS (5), or agitation (2). Two were not intubated but admitted for monitoring, and four were admitted for plasma exchange (PLEX) only. Most were transferred to our centre for diagnostic work-up and specialist management. ICU-specific interventions included supervision of ventilation and respiratory weaning, and management of seizures. Autonomic dysfunction was frequent, including two patients with asystolic episodes on valsalva manoeuvres. Disease- specific treatments included IVIg, PLEX, steroids, rituximab and bortezomib. A teratoma was found in 9 women, including in two women who were also found to have another malignancy requiring treatment during admission. Length of ICU stay was frequently prolonged (median 66 days, range 4–457) with complex rehabilitation requirements on discharge. However, given sufficient recovery time, many returned to independence, and only three died. These data show the importance of good ICU care with specialised neurological input, to optimise outcomes in NMDARE.
062 Diagnostic investigations in suspected autoimmune and paraneoplastic encephalitis: a six-month retrospective audit
Authors: Gilligan Michael , Wallace Eleanor , Kinsella Justin
Published: March 2023

Autoimmune and paraneoplastic encephalitides are differentials for many neurological syndromes. We aimed to assess which clinical, biochemical and imaging features were associated with positive autoantibodies in suspected cases. Data on patients receiving paraneoplastic/autoimmune encephalitis work-up in St Vincent’s University Hospital over a six-month period were analysed. All patients were tested for one or more of the following antibodies: Anti Hu, Yo, Ri, Ma-1, Ma-2, Tr, Amphiphysin, SOX1, Zic4, CRMP5, NMDAR, VGKC, AMPA-1, AMPA-2, GABA-B, GAD and Glycine. We compared the clinical, radiological and biochemical characteristics of patients with positive versus negative serum antibodies. 215 patients underwent serum autoimmune/paraneoplastic screening between June and December 2018. The most common indications were psychiatric or cognitive disturbance (38.5%) and neuropathies (24.7%). 14 patients (6.5%) had clinically significant positive antibody results. Features most commonly associated with antibody positivity included abnormal basic CSF parameters and visible MRI lesions. 46% of patients received full-body imaging. 34% of these patients required follow-up for non-neurological findings. Our audit revealed low incidence of serum autoantibody detection and the possible important predictive value of CSF analysis. However, despite the investigative burden, appropriate paraneoplastic screening including autoantibody and imaging studies should be performed.
065 CXCL13 levels and autoantibody epitope specificities in LGI1-autoantibody syndromes
Authors: Michael Sophia , Ramberger Melanie , Leite Isabel Maria , Sen Arjune , Waters Patrick , Irani Sarosh
Published: March 2023

CXCL13 triggers B-cell homing to germinal-centres (GCs). Plasma CXCL13 levels are a marker of GC activity, and CSF CXCL13 levels are elevated in MS, NMDA-R-antibody encephalitis, and NMO. Our objectives were to examine CXCL13 concentrations in LGI1-antibody patients, and the concept of GC-reactions in these patients. Additionally, we explored patient serum binding patterns to two LGI1 domains: LRR and EPTP.

End-titrations against full-length LGI1, LRR and EPTP were quantified by live-CBA for 100 sera from 38 LGI1-antibody patients. Serum CXCL13 levels were determined by ELISA in 86 samples from 19 LGI1-antibody patients and HCs (n=20), and evaluated with Mann-Whitney and Spearman’s correlation.

98% sera bound both EPTP and LRR, with tight correlation in end-titres (r 0.9257;p<0.0001****) which did not change over disease course. LGI1- antibody patients showed higher serum levels of CXCL13 compared to HCs (p<0.0001). CXCL13 trends over time showed markedly high levels at onset and sharp rises during relapses.

LGI1-antibody patients showed high CXCL13 levels with dynamic longitudinal fluctuations. Autoantibodies with reactivity to both EPTP- and LRR-LGI1 domains were detected in equal proportions throughout disease, indicating their ongoing production. Overall, these findings suggest that sustained, ongoing GC-reactions may act as a dominant mechanism of autoantibody production in LGI1-antibody syndromes.
067 Bannwarth syndrome presentation of neuroborreliosis, with radiological evidence of CNS demyelination
Authors: Soane Tim , Shaikh Fahad , Mair Grant , Baggott Amy , Pal Suvankar
Published: March 2023

A 59 year old right handed IT professional presented with left shoulder pain, which evolved to whole arm weakness, numbness and pain, before affecting his right arm and then legs to a lesser degree. Over subsequent weeks he developed right facial weakness and circumferential numbness around his torso. Examination revealed a mixed picture of lower motor neurone signs and long tract signs. CSF analysis showed a pleocytosis of 415 white cells, predominantly lymphocytes and elevated protein at 3.49 g/dL. MRI head showed a number of periventricular and brainstem lesions with appearances and locations typical for demyelination. Nerve conduction studies were compatible with a demyelinating polyradiculoneuropathy.

Lyme serology showed elevated IgG positive and borderline elevated IgM. His CSF antibody levels were compatible with neuroborreliosis. He was treated with ceftriaxone 4 g daily for 21 days.

The Bannwarth syndrome is a triad of painful polyradiculopathy and facial nerve palsy and lymphocytic pleocytosis, and is a presentation of neuroborreliosis typically associated with European neuroborreliosis caused by infection with Borrelia afzelii and garinii genospecies.
12.03 Acute neurology: a two week snapshot in a district general hospital
Authors: Kanagaratnam Meneka , Boodhoo Ajay , MacDonald Bridget , Nitkunan Arani
Published: March 2023

Neurological illnesses are a common cause of hospital admissions, yet most patients are not primarily managed by neurologists. Acute neurology services also vary across the UK. During a 2 week period in a district general hospital with a 5 day inreaching neurological service (a consultant delivered service with a neurology nurse coordinator but no inpatient beds), the number of patients admitted with a neurological problem, as well as the proportion of those patients who were seen by the hyperacute neurology team was assessed by reviewing the diagnostic codes. It was established there was a total of 2242 admissions during the study period, and of those, 491 (22%) had neurological codes. Careful analysis of the 491 hospital electronic records revealed that 229 (10%) were truly neurologically relevant. Of those, 14% patients had a neurological opinion – despite a relatively comprehensive service (compared to many other district general hospitals), only a small proportion of acute neurology is being seen by neurologists.
082 Safety of ondansetron in a case series of patients with a predisposition to seizures
Authors: White Laura , Pipe Michelle , Hayton Tom , Barnes Nicholas
Published: March 2023

Background

Patients with temporal lobe epilepsy and hippocampal sclerosis (TLE-HS) have increased hippocampal 5-hydroxytryptamine (5HT)-3 receptors versus controls. 5HT-3 antagonists may therefore be efficacious in TLE-HS. However, rare case reports have described seizures in patients treated with 5HT-3 antagonists. We retrospectively investigated seizure episodes in patients with a seizure predisposition treated with ondansetron.

Methods

Inpatients admitted to the West Midlands regional neurosciences centre from 08/09/2015–31/01/2017 with an epilepsy diagnosis or prescribed ≥1 antiepileptic drug and treated with ondansetron for ≥4 days were included. Patient notes were reviewed to identify seizure episodes during ondansetron treatment.

Results

50 patients were identified; 14 had epilepsy, 36 had other diagnoses predisposing to seizures. During ondansetron treatment, 21.4% epilepsy patients and 11.1% with other diagnoses experienced ≥1 seizure; all seizures were deemed unlikely to be ondansetron related. Patients with seizures had similar treatment duration versus patients without (median 8 vs 6 days) and a lower cumulative dose (median 56 vs 72 mg).

Conclusion

Three patients with epilepsy and four with other diagnoses experienced seizures during ondansetron treatment; none of the seizures were thought to be ondansetron related. A randomised controlled study is needed to assess the efficacy and safety of ondansetron in patients with epilepsy.
084 A rare case of neurosyphilis imitating limbic encephalitis
Authors: Minton Thomas , Giavasi Christina , Gamoudi Donia
Published: March 2023

Neurosyphilis refers to the infection of the central nervous system (CNS) with the Spirochete bacterium Treponema Pallidum (T.Pallidum). Due to the heterogeneity of clinical manifestations of neurosyphilis diagnosis can often be difficult. Here we describe the case of 37 year old heterosexual male, presenting with a 6 month history of recurrent episodes of expressive dysphasia, right upper limb paraesthesia and weakness, photopsia and headaches. Magnetic resonance imaging demonstrated bilateral temporal lobe signal abnormalities consistent with a viral or limbic encephalitis. Serum Treponema screening and CSF VDRL were both positive, consistent with a diagnosis of neurosyphilis. He was successfully treated with antibiotics, but has been left with left hippocampal sclerosis. The transient neurological symptoms were felt to be epileptic phenomena and his symptoms improved significantly with Lamotrigine. This case highlights the importance of early consideration of neurosyphilis in the differential for limbic or viral encephalitis.
088 The walton seizure pathway – experience to date and outcomes
Authors: Fletcher Nicholas , Marson Anthony , Riley Julie , Wilson Martin , Nicolson Andrew
Published: March 2023

We designed a seizure management pathway for A&E and acute medical units of Walton Neuro Network hospitals. This was in response to the results of the National Audit of Seizures in Hospitals (NASH) revealing considerable variation in management and referral of patients after seizures. It was established with a varying degree of success in seven acute trusts. Its aims were: 1. clear admission and discharge criteria; 2. guidance on management of patients requiring admission, status epilepticus and obtaining inpatient advice or consultation if needed; 3. a simple pathway for all seizure patients to be referred quickly to WCFT after discharge from A&E or an acute medical ward; 4. to reduce repeat A&E attendances and re-admissions; 5. clear patient information for all patients discharged from A&E or inpatient care after seizures.

The outcome was reviewed for 2016–2018. More seizure patients were referred (+23%); the proportion of patients seen in a neurology clinic after a seizure related admission increased from 34% to 42% and the proportion of seizure patients admitted to local hospitals who were not under neurology follow up fell from 58% to 48%. However, the referral rate after admission of new (or not under review) seizure patients remains too low at 21%. There has been no effect yet on re-admission or A&E re-attendance rates of patients after seizure admissions.
091 Six years of perampanel: impact on patients with refractory epilepsy
Authors: Dougan Ann
Published: March 2023

Introduction

In 2012 perampanel acquired a UK license for adjunctive therapy in the treatment of epilepsy. It has a mechanism of action distinct from all other anti-epileptic drugs. At Bart’s Health we use it to improve seizure control in patients with refractory (drug-resistant) epilepsy, which affects roughly one third of all patients with epilepsy.

Aim

To evaluate the contribution of perampanel in the treatment of refractory epilepsy.

Methods

Electronic patient records were accessed to obtain information on efficacy, adverse effects, maximum tolerated dosage and concomitant medication.

Results

Permapanel has been used in the treatment of 45 patients. No patients have been rendered seizure-free by the drug. Fifteen patients demonstrated a sustained reduction in seizure frequency and have remained on perampanel therapy. Thirteen patients experienced no, or questionable, benefit and discontinued the drug. Thirteen patients were intolerant and discontinued the drug. There was no clear association with any combination of epilepsy medication.

Conclusion

Perampanel has enabled us to improve seizure control and quality of life in one third of this cohort of patients, which would have not been possible before its introduction. It has proved a useful addition to the armamentarium of drugs available for the treatment of refractory epilepsy.