bluuebunny/crossref_metadata_2025 huggingface dataset:
073  Posterior reversible encephalopathy syndrome (PRES) complicating anti-NMDA receptor encephalitis (NMDARE) with ovarian teratoma
Authors: Vinayan Changaradil D , Abdulla N , Kyaw K , Kumar G , Sreedharan H , Moran N , Flores Caimanque L
Published: May 2022

Introduction

Anti-N-methyl-D-aspartate receptor antibody-associated encephalitis (NMDARE) is a form of autoimmune encephalitis typically affecting young women, often associated with an ovarian teratoma. Clinical features include psychiatric disturbances, seizures, dyskinesia, dysautonomia, and cardiac dys- rhythmias. Here we present a case of NMDARE complicated by posterior reversible encephalopathy syndrome (PRES). This complication has not been reported previously.

Case

A 17-year-old girl presented with acute psychosis. The neurological examination was unremark- able. MRI brain revealed left hippocampal T2 signal hyperintensity; there was a CSF lymphocytosis. NMDA-receptor antibodies in serum and CSF were detected and intravenous methylprednisolone was commenced. Progressive agitation lead to ITU admission. Plasma exchange and intravenous immuno- globulins were administered. MRI pelvis revealed a left ovarian cyst which was removed (laparoscopic salpingo-oophrectomy). Gross inspection and histopathology confirmed an ovarian teratoma. Persistently elevated blood pressure was noted for a week on ITU, associated with clinical deterioration. Rituximab was administered. A repeat MRI brain the next day revealed hyperintensities in temporo-parietal and occipital regions consistent with PRES. The second dose of rituximab was withheld. Clinical and radiologi- cal improvement was noted after a week, and the patient was discharged home.

Discussion

Encephalitis mediated dysautonomia may lead to disruption of cerebral autoregulation cul- minating in PRES. The administration of rituximab may also have contributed. This case exemplifies the uncommon complications associated with NMDARE.

dr.dvinayan@gmail.com
077  Long-term safety and efficacy of mexiletine for patients with myotonic dystrophy type 1 and 2
Authors: Mousele Christina , McDonald Susan , Pitcheathly Robert , Hanna Michael , Turner Christopher , Matthews Emma , Carr Aisling
Published: May 2022

Introduction

Myotonic dystrophies type 1 and 2 (DM1 and DM2) are progressive, inherited multisys- tem disorders characterized by muscle weakness, myotonia and life-threatening cardiac dysrythmias. Treatment of myotonia is important for quality of life, mobility, and functional independence. Mexiletine is a sodium channel blocker, which has so far been shown to be effective in myotonia management in non-dystrophic myotonias. However, cardiac side effects are reported. Its long-term safety and efficacy in DM1 has not been established.

Methods

25 patients with DM1 or DM2 have been treated with mexiletine in the NHNN cohort. Efficacy and tolerance was determined by patient report. PR interval, QRS duration and corrected QT interval (QTc) were noted.

Results

Mean duration of treatment was 32.9 months. 21/25 patients reported efficacy, 3/25 partial efficacy, and 4/25 discontinued treatment due to gastrointestinal side effects.

Mexiletine did not precipitate symptomatic arrhythmia in any patient. Paired assessment of ECG param- eters at baseline and at the highest treatment dose revealed no significant change in PR interval, QRS complex duration, or QTc.

Conclusions

This small retrospective analysis suggests long-term efficacy and cardiac safety of mexiletine for treatment of myotonia in patients with myotonic dystrophies.

christinamousele92@gmail.com
079  Unmasking of motor neuron disease by botulinum toxin therapy
Authors: Paluri Srinivasa , Hassan Muha , Lambert Tom
Published: May 2022

A 75 year-old male with a history of a right hemiparesis due to past h/o stroke sustained a T3 vertebral body compression fracture after a fall and was treated conservatively. Six months later, in a rehabilita- tion clinic he reported that following discharge there had been a gradual deterioration in his mobility and strength, particularly on the right side. His right upper limb had become more stiff and painful with decreased range of movements. Two months later he received Dysport injections to the right elbow flexors, right brachioradialis, soleus and right flexor carpi radialis. Four days later, he developed worsening right sided weakness, slurred quiet speech, head drop and difficulty swallowing and this persisted. On review in neurology clinic there was a head drop with neck extensor weakness, spasticity and severe weakness in his right upper and lower limbs. There were also upper and lower motor neuron signs in his left upper and lower limbs. Neurophysiology studies eventually revealed fasciculation potentials and active den- ervation changes in the left upper and lower limb raising ‘the strong suspicion of generalized anterior horn cell disease’. He continued to progress and eventually passed away with pneumonia a year after the original fall. We believe this is a case of incipient motor neuron disease unmasked by botulinum toxin treatment. This is not a recognized phenomenon though it has previously been reported.

s.paluri@nhs.net
082  A rare mimic of inflammatory myopathy
Authors: Purcaru Elena , Carroll Liam , Furby Julian
Published: May 2022

A 37 year-old female presented with 5-weeks of neck pain, proximal weakness and dysphonia. Exami- nation showed facial rash, proximal weakness, areflexia and distal sensory loss. She had a 6-year history of sensory neuropathy, treated functional B12 deficiency and fibromyalgia. Serum showed elevated CK (360U/L) and borderline positive Anti-Ro52. Electrophysiology showed worsening sensory neuropathy and new myopathic features. She deteriorated soon after receiving intravenous corticosteroids and immu- noglobulins. CK increased to 1796 U/L and she developed bulbar failure requiring respiratory support.

Muscle biopsy electron microscopy showed lipid accumulation suggesting a metabolic disorder. Serum acylcarnitines and urinary organic acids were abnormal, consistent with Riboflavin Transporter Deficiency (RTD). Riboflavin 500mg three times daily was initiated, urinary organic acids normalised and the patient regained full-power with neurorehabilitation.

RTD is a rare cause of peripheral and cranial neuropathy, with autosomal recessive inheritance due to variants in riboflavin transporter genes and onset up to young adulthood. Mutation carrier frequencies should generate 70 new cases per year worldwide, though only ~80 case-reports exist in the literature suggesting under-recognition. Riboflavin is a precursor for coenzymes important for carbohydrate, amino acid and lipid metabolism. Untreated, the disorder is fatal, though the majority of patients improve with Riboflavin supplementation.

elena.purcaru@gmail.com
083  An audit of myasthenia gravis patients at a tertiary neurosciences centre
Authors: Vidot Micha , Crawshaw Ania , Nitkunan Arani
Published: May 2022

Introduction

This is the first known audit of Myasthenia Gravis (MG) conducted against the ABN 2015 guidelines. St. George’s Hospital is a tertiary neurosciences centre serving approximately 3 million.

Methods

All patients admitted with a diagnostic code of MG in 2018 were identified (n=59). Data relevant to ABN guidelines were collected from patient records.

Results

Average time since diagnosis was 7 years (range 0–49). 56% had generalised myasthenia, 25% ocular myasthenia (OMG) and 19% were unspecified. Regarding investigations documented: neurophysi- ology 40%; serotype 58%; thymus imaging 54%; MRI brain 9/14 OMG. Regarding treatment: prednisolone in 61% (6/36 were on a higher than guideline recommended dose to control symptoms); bone protection in 24/36; immunosuppressant in 54%. Immunosuppression was indicated in 2/17 patients who were not on a steroid-sparing agent. Myasthenia was the primary reason for admission in 27/59. 55% of these inpatients had vital capacity monitoring documented. 81% had speech and language therapy.

Conclusion

The ABN guidelines are relatively new considering disease duration in this cohort. A signifi- cant limitation is the assumption that if something was not documented in the electronic records, it was not done. A regional MDT has been created this year and re-audit is planned to determine its impact.

m1701119@sgul.ac.uk
087  Audit of thymectomy for thymoma associated and non-thymoma associated myasthenia gravis at Southampton General Hospital
Authors: Allen Claire , Badran Abdul , Pinto Ashwin , Burke Georgina , Woo Edwin
Published: May 2022

Introduction

In 2016, a pivotal multi-centre RCT demonstrated that thymectomy for non-thymoma asso- ciated myasthenia gravis (MG) improved clinical outcome and reduced long-term immunosuppression. We sought to review how practice has changed in Wessex following the trial.

Method

Patients over the age of 18 who underwent thymectomy for both thymoma and non-thymoma associated MG between 01/08/2013 and 01/08/2019 were identified using coding. Data was collected retrospectively from healthcare records.

Results

The number of thymectomies performed increased from 6 to 24, representing an eight-fold increase for patients with non-thymoma associated MG and three-fold increase for patients with thymoma. Time from diagnosis to surgery for patients without thymoma reduced from 8.8 years to 2.3 years. Overall 15/24 cases were performed by VATS, 12% more than previously. There was a small increase in surgical morbidity. However, 50% of patients were on reduced doses of immunosuppression by six months after surgery without deterioration in myasthenia.

Conclusion

Following the landmark publication in 2016, there has been a significant increase in the number of thymectomies performed in Wessex. Time to surgery has fallen, but associated surgical morbidity has increased. These observations have supported the development of a MDT in Wessex to streamline patient care and improve outcomes.

c-allen@doctors.org.uk
088  The clue is in the neck
Authors: Cleaver Jonathan , Morgan Elsa , Lyons Paul , Chohan Gurjit
Published: May 2022

Miller-Fisher Syndrome is characterised by ataxia, ophthalmoplegia and areflexia. Approximately 72% are preceded by infection, of which, Campylobacter jejuni and Haemophilus influenzae are frequently reported aetiological agents.

We report a 22-year-old lady admitted with ataxia and worsening diplopia. On examination, she had bilateral abducens nerve palsies, left-sided facial weakness and widespread areflexia. Palpable lym- phadenopathy was present bilaterally.

MRI showed mild inflammatory sinus disease and marked cervical lymphadenopathy. CSF revealed albuminocytologic dissociation and monospot was positive for Epstein-Barr virus. Subsequent abdominal sonography detected splenomegaly and counselling on avoiding contact sports was provided.

A diagnosis of MFS was made based on the history, clinical features and supportive investigations. Anti-GQ1b antibodies were negative.

MFS is typically associated with anti-GQ1b antibodies although a significant percentage (>10%) are seronegative. Recent studies have suggested anti-GAD may be associated with a broader clinical spectrum of presentations.

The patient received 5 days of intravenous immunoglobulin and several weeks later she had complete symptomatic resolution.

MFS is a self-limiting, though temporarily debilitating condition, and EBV should be remembered as a causative agent; particularly in susceptible demographic groups.

Radiographic and viral clues, including examination of the neck, may facilitate accurate diagnosis.

jkcleaver88@gmail.com
092  War, arsenic and A(wo)MAN
Authors: Kozul Tara Klemencic , Osman Chinar
Published: May 2022

Acute motor axonal neuropathy (AMAN) is a subtype of Guillain-Barré syndrome (GBS) with predominant motor axonal changes and no sensory signs or symptoms. Recovery can vary from complete to incom- plete with residual disability1. Arsenic is a heavy metal which is poisonous at low concentrations. Acutely, it causes vomiting, colicky abdominal pain and profuse watery diarrhoea. Its poisonous effects on the nervous system include a peripheral neuropathy mimicking GBS. Arsenic is a popular choice as an incon- spicuous murder weapon. It can resemble white sugar in appearance and be tasteless and odourless2. Other uses include pest control in agriculture and as a cotton desiccant. Certain forms of arsenic have been used in chemical warfare. We present a case of a 39 year-old female refugee with a 20 year history of bilateral upper and lower limb distal weakness. Aged 17, she developed profuse vomiting followed by an acute paralytic illness whilst living on a cotton farm in Kurdistan, Iraq. Neurophysiology demonstrated a severe motor axonal neuropathy with chronic partial denervation on EMG. We believe her symptoms may be related to arsenic poisoning, used during the Iraqi-Kurdish civil war3. This case highlights the impor- tance of considering geopolitical factors to aid diagnosis in neurological presentations.

tara.kozul@uhs.nhs.uk
098  Guillain Barré syndrome (GBS) – like presentation as a first clinical manifestation of non-Hodgkin’s lymphoma
Authors: Siddiqui Sarah , Poole Olivia , Midgley Laura , Vijayan Ashwathy , Bland Jeremy , Harikrishnan Sreedharan , Alkufri Fadi , Redmond Ian , Moran Nicholas
Published: May 2022

A variety of peripheral nerve disorders can be seen in association with lymphomas. We present a case of a 68-year-old female who presented with ten days history of rapid onset ascending paresthesias followed by unsteadiness. Neurological examination was remarkable for truncal ataxia with wide-based gait, large fiber sensory impairment (proprioception/vibration). There was some evidence of autonomic instability given labile blood pressure and tachycardia. MRI head and spine were unremarkable, as was the CSF. She was initially treated as acute ataxic variant of GBS with IVIG; however, there was continued clinical deterioration. Electrophysiology three weeks after symptom onset showed minimally delayed F waves, with normal sensory and motor NCS. Nerve Ultrasound revealed pronounced enlargement of C6 nerve root which was confirmed later with MRI of brachial plexus showing thickening and some enhancement of roots and trunks. Subsequent CT CAP and PET scan showed mediastinal, hilar and supraclavicular lymphadenopathy, though no PET uptake in the region of dorsal root ganglion. Biopsy of the right supra- clavicular node was consistent with an anaplastic large cell lymphoma.

Atypical presentations of acute neuropathy can be attributed to GBS; however, they should include evalu- ation of a paraneoplastic process which can have similar acute presentations. This case also demonstrates the importance of nerve ultrasound which can be significantly abnormal in sensory neuronopathy with relatively normal electrophysiological testing.

s_hasan_s@yahoo.com
100  All that glitters is not GARS
Authors: Doherty Carolynne M , Pipis Menelaos , Skorupinska Mariola , Manzur Adnan , Muntoni Francesco , Shah Sachit , Morrow Jasper , Rossor Alexander M , Reilly Mary M
Published: May 2022

Background

A 22-year-old woman was initially assessed in the context of a family history of distal wasting and weakness, typically with upper limb onset, then lower limb involvement. When assessed as a child her phenotype was recognised to be atypical compared to her sister, but she was thought to be affected. Ultimately the family was diagnosed with distal hereditary motor neuropathy due to a GARS mutation. However, this patient did not carry the mutation, prompting further evaluation.

Case

At age 11 the left foot was smaller with some toe clawing and cavus deformity. Left sided wasting of tibialis anterior and the posterior compartment was seen, ankle dorsiflexors were grade 3.

Results

Nerve conduction studies and EMG were normal in the right leg and arms. Chronic denervation was identified in L4, L5 and S1. MRI of lumbar spine was normal. However, 2 areas of marked thickening and enhancement were seen in the left sciatic nerve in the upper thigh and a further lesion in the mid- thigh. Fascicular preservation of the nerve was felt to be strongly suggestive of a perineurioma.

Discussion

This case highlights the importance of careful phenotyping when validating novel variants in potentially causative genes.

c.doherty@ucl.ac.uk
101  Neuromuscular MRI in assessment of variants of unknown significance in inherited neuropathy and associated disorders
Authors: Doherty Carolynne M , Pipis Menelaos , Skorupinska Mariola , Shah Sachit , Morrow Jasper , Rossor Alexander M , Reilly Mary M
Published: May 2022

Background

A problem frequently faced by neurologists is the interpretation of genetic variants of unknown significance(VUS). Unlike in many muscle diseases, specific patterns of muscle involvement are not typically demonstrated on muscle MRI of inherited neuropathy patients. Imaging muscle involvement can be of assistance when assessing VUS.

Case Examples

Two unrelated individuals with axonal CMT were identified to have a novel p.Lys554Glu DNM2 mutation. Neuromuscular MRI was consistent with the clinical findings and similar to literature descriptions, supporting the pathogenicity of this variant.

Spinal Muscular Atrophy Lower Extremity Dominant (SMA-LED) due to DYNC1H1 mutations can be associ- ated with sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, with diffuse involvement at the calf level, sparing the anterior-medial muscles1 on MRI. These features were demonstrated in the imaging of a proband with SMA-LED has two mutations in DYNC1H1, one of which is novel. The novel p.His75Pro mutation was also found in his mother who has normal clinical examination and neuromuscular MRI, suggesting that the previously described p.Arg251His mutation2 was the cause of the neuromuscular phenotype in the proband.

Discussion

MRI has a role supporting the diagnosis of inherited neuropathies, and in evaluating VUS.

Scoto et al. Novel mutations expand the clinical spectrum of DYNC1H1-associated SMA. Neurology.2015Feb17;84:668–679

Antoniadi et al. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides high diagnostic yield.BMCMedGenet.2015Sep21;16:84.

c.doherty@ucl.ac.uk
103  High rates of venous and arterial thrombotic events in POEMS patients
Authors: Keddie Stephen , Sayar Zara , Weatherill Anna , Sive Jonathan , Thomas Mari , D’Sa Shirley , Lunn Michael
Published: May 2022

Background

Arterial and venous thrombotic events occur in patients with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, Skin changes) syndrome with a previously reported rate of 20%. We reviewed the UK POEMS Registry to describe the rate of venous thromboembolism (VTE), arterial events and risk factors.

Methods

The UK POEMS Registry is the largest single-centre cohort in Europe and comprises 100 patients. Data were collected on arterial and venous thrombotic events from 1999 to present day.

Results

Of the 83 assessable patients, median age at presentation was 52 years. Twenty-five patients expe- rienced 35 clinically apparent arterial or venous events. Eleven patients had 14 VTEs including deep vein thrombosis (DVT, 4/14), pulmonary embolism (4/14) and peripherally inserted central catheter-associated DVT occurring during autologous stem cell transplant (4/14). Sixteen patients experienced 21 arterial events: stroke (7/21), peripheral arterial occlusion (6/21), myocardial infarction (4/21) and microvascular disease (2/21), with no discernible relationship with thrombocytosis or polycythaemia. The combined venous and arterial event rate was 42%, over double that previously reported. There were more arterial than venous events, and most occurred during active pre-treated disease indicating a need for a pre- emptive approach to thromboprophylaxis.

Conclusion

Arterial and venous thromboses are more common in POEMS syndrome than previously reported and appear associated with disease pathology and activity. We propose a management strategy for appropriate thromboprophylaxis in POEMS patients throughout the course of disease.

stephen.keddie@nhs.net
109  The ABN Acute Neurology Boot Camp: Pre- and post-course feedback for the inaugural event
Authors: Rees Richard N , Shribman Sam , Jones Matt , Warner Thomas T , Sussman Jon
Published: May 2022

Introduction

The transition from medical SHO to neurology registrar is a period fraught with anxiety and stress. Returning from parental leave or out-of-programme experiences can engender similar feelings in more experienced neurology trainees. We sought to support junior and senior neurology trainees through this period by organising the inaugural ABN Acute Neurology Boot Camp.

Methods

The ABN delivered a one-day course covering a range of acute neurology topics. Sessions were delivered by a gender-balanced panel of early-stage consultants who had been recommended by current trainees for their teaching style and enthusiasm. Participants completed a pre- and post-course survey. The primary outcome measure was the self-rated level of confidence in being the neurology registrar on-call using a 10-point Likert scale.

Results

73 trainees attended from across the UK. The median pre-course confidence level was 4 (IQR 3), which improved to median 6 (IQR 2) (p<0.0001). Both junior (FY1-CT2) and senior trainees (ST3+) reported improvement as a result of the course. Confidence in managing acute presentations in each of the topic areas improved significantly.

Discussion

Trainees benefit significantly from being supported through these points of transition. The Acute Neurology Boot Camp is a useful and effective method of providing education and support.

richard.n.rees@ucl.ac.uk
110  Methylmalonic acid testing in neurological patients
Authors: Yoganathan Katie , Ayling Ruth , Turner Ben , Dobson Ruth
Published: May 2022

Vitamin B12 deficiency can lead to neurological abnormalities including paraesthesia, ataxia and subacute combined degeneration of the cord (SACD). Nitrous oxide abuse leads to SACD via func- tional B12 deficiency. Methylmalonic acid (MMA) testing is increasingly available, but it remains unclear where MMA levels are clinically useful.

We performed a quality improvement project examining Vitamin B12 and MMA levels in a cohort of neu- rological patients. All patients known to neurology who underwent same-day testing of B12 and MMA levels (2016–2019) were included.

60 individual patient records were evaluated. 17 individuals (28%) had high MMA, of whom 6 individuals had SACD and 11 had peripheral neuropathy. These patients had B12 levels between 91–371ng/L (lower limit of normal (LLN) is 197ng/L). Of these, only one had severe B12 deficiency, 4 had moderate deficiency (150–197ng/L) and 12 (71%) had normal B12. The highest B12 level associated with raised MMA was 372ng/L. All individuals with B12 >372ng/L and neurological symptoms had normal MMA.

In individuals with serum vitamin B12 above the lower 1/3 of the reference range and neurological symptoms/signs, MMA does not add to the clinical picture. Furthermore, MMA testing does not change management in patients with B12 levels below the LLN, all of whom should be treated for B12 deficiency. We suggest testing MMA in those with Vitamin B12 levels in the lower 1/3 of the reference range.

katieyoganathan@gmail.com
112  Cerebral venous sinus thrombosis: a large retrospective audit from a regional neurosciences centre
Authors: Batcheller Lisa , Appleton Jason P , Hayton Tom
Published: May 2022

Introduction

Cerebral venous sinus thrombosis (CVST) can be a challenging condition to diagnose and treat. We previously performed an audit of CVST patients (2010–2014) and sought to re-audit for changes in practice.

Methods

We performed a retrospective audit of CVST patients admitted to Queen Elizabeth Hospital Birmingham, auditing against international guidelines. Comparisons with 2010–2014 data used Fisher’s exact test.

Results

Between June 2015 and June 2019, 88 patients with CVST were included. Median age 44 years (range 16–87), 56% female. 56 (64%) patients underwent CT venography (CTV) and 16 (18%) MR venog- raphy (MRV); a greater proportion underwent venography than in 2010–2014 (31/51, 61%, p<0.001). Low molecular weight heparin was the commonest initial anticoagulant: 2010–2014 68% vs. 2015–2019 73% (p=0.70). There was a tendency towards less IV heparin over time: 18% vs. 7% (p=0.09). Although warfarin was the most common long-term anticoagulant in both audit periods (69% vs. 43%), direct oral antico- agulants (DOACs) were used in 12 (14%) patients in 2015–2019. 53% had thrombophilia screening despite this not being routinely recommended.

Conclusions

In 2015–2019, a greater proportion of patients with CVST were diagnosed using CTV/MRV and received less IV heparin. DOAC usage is increasing in CVST. Thrombophilia screening remains controversial.

lisabatch1@gmail.com
113  Developing the neurology referral process at a district general hospital
Authors: Kent Loredana , Wei Diana , Warner Graham
Published: May 2022

Introduction

Despite neurological presentations accounting for around 15% of all hospital admissions, data on inpatient referrals to neurology is limited. 1,2 Early intervention from a neurologist can improve clinical outcomes and reduce readmissions.3 Therefore, it is important that referral processes are reviewed and developed to improve clinical effectiveness

Methods

The study aimed to identify reasons for referral to neurology in addition to outcomes of the referral. 50 consecutive referral forms from February 1st 2019 were reviewed to collect data.

Results

Most common reason for referral was for advice on management of a long-term neurological condition (n=15, 30%), followed by new onset seizures (n=11, 22%) and focal neurological deficits (n=11, 22%). Referrals commonly resulted in further imaging (n=17, 34%) and investigations (n=17, 34%), followed by medication advice (n=16, 32%).

Discussion

Neurology services are used for both input on acute management of a new neurological presentation and advice on management on chronic neurological conditions. Seizure management is common in both categories. Referrals commonly result in requests for further investigations, however, it is perhaps less commonly documented when further tests are advised against.

Overall, the neurology referral form could be adapted to reflect the above conclusions, to increase efficiency of the service.

Loredana.kent@nhs.net
114  Neuro-critical care: a 4-year experience
Authors: Brown Rachel , Spillane Jennifer , Howard Leo , Radcliffe Jeremy , Kullmann Dimitri , Howard Robin
Published: May 2022

There is an increasing demand for specialist intensive care driven by the complexities associated with prolonged admission for patients with primary neurological disorders. Provision in the UK remains inad- equate and it is essential to establish clear guidelines for appropriate referral.

We describe 354 patients admitted to the Neurological Critical Care Unit (NCCU) at Queen Square over 4 years (2016–2019) and reflect on changes in the pattern of care. 95 patients were admitted with neu- romuscular disorders, 79 vascular, 68 autoimmune, 27 primary CNS infection, 20 prolonged or refractory epilepsy. We note a relative increase in the numbers of patients and duration of admission for those with autoimmune disorders, refractory status epilepticus and vascular disease.

Indications for admission continue to include the multidisciplinary management of coma, profound weakness, bulbar, ventilatory and autonomic failure, status epilepticus and systemic complications of neurological disorders. Recent trends in admissions and duration of stay reflect the role of neurological intensive care in supporting patients requiring immunomodulatory treatments, specialist epilepsy man- agement and radiological or surgical intervention for vascular disease.

Limited provision of neurological ICU raises issues concerning appropriate allocation of resources between the care of common acute neurological disorders and specialist tertiary referral requiring prolonged admission.

robinhoward@nhs.net
115  SMART: A rare syndrome with potentially devastating consequences
Authors: Baheerathan Aravindhan , Lynch David , Pednekar Nichil , Blindheim Christer , Smyth Ducan , Stockford Lindsey , Rees Jeremy
Published: May 2022

Stroke like migraine attacks after radiation therapy (SMART) is an uncommon delayed complication after cranial irradiation. Whilst classically reported as a reversible syndrome, SMART can have serious neurologi- cal sequelae. We report three cases with differing neurological presentations and outcomes.

A 57 year old female with previous cranial radiotherapy for a frontal astrocytoma treated 9 years earlier presented with a two week history of headache, aphasia and right sided hemiparesis. MRI Brain demon- strated new extensive left hemispheric enhancement with extensive effacement of the ipsilateral cerebral sulci. 40 days following her presentation she started to improve and is now in rehabilitation.

A 33 year old female with a background of medulloblastoma treated with cranio-spinal radiotherapy 19 years earlier presented with worsening confusion. Her GCS continued to deteriorate and she was intubated and ventilated. MRI Brain showed extensive symmetrical signal anomalies with cortical enhancement along the occipital, temporal and parietal lobe borders. 2 months later she remains in a minimally conscious state.

A 65 year old male with a background of acute lymphoblastic leukaemia treated 30 years earlier who was treated prophylactic cranial irradiation presented with headache and unintelligible speech. His symptoms settled after 7 days and he made an almost complete recovery.

*Aravindhan Baheerathan and David Lynch are joint first authors c.c.blindheim@gmail.com
120  Impaired phonemic discrimination in logopenic variant primary progressive aphasia
Authors: Johnson Jeremy , Jiang Jessica , Benhamou Elia , Requena-Komuro Mai-Carmen , lan Harri Sivasathiasee- , Marshall Charles , Volkmer Anna , Rohrer Jonathan , Warren Jason , Hardy Chris
Published: May 2022

Background

Whilst current diagnostic criteria for primary progressive aphasia syndromes (PPA) emphasise impaired language output and linguistic processing, deficits of auditory analysis are increasingly rec- ognised in PPA syndromes. We assessed phonemic discrimination and its neuroanatomical correlates in patients representing all major PPA variants, compared with typical Alzheimer’s disease (tAD) and healthy age-matched individuals.

Methods

81 patients with PPA or typical Alzheimer’s disease, and 73 controls performed a phonemic minimal pair discrimination task. Neuroanatomical associations of phonemic discrimination performance across the PPA cohort were assessed using voxel-based morphometry.

Results

Patients with logopoenic variant primary progressive aphasia (lvPPA) as a group performed sig- nificantly worse than both the healthy control group and other PPA variants, after adjusting for auditory verbal working memory. Patients with typical Alzheimer’s disease showed a similar pattern of performance to the lvPPA group. Voxel-based morphometry revealed a significant association of regional grey matter in left angular gyrus with phonemic discrimination performance.

Conclusions

Impaired phonemic discrimination is a component of lvPPA and may help differentiate this syndrome from other forms of PPA. These findings speak to the emerging theme of auditory perceptual dysfunction in the progressive aphasias, with implications both for refining diagnostic criteria and developing new clinical biomarkers.

jeremy.johnson@doctors.org.uk
122  Head Injury discharge advice in an emergency department
Authors: Elkommos Samia , Hardy Jean , Elliot Katherine , Jenkins Peter , Dilley Michael , Griffin Colette
Published: May 2022

Background

Head Injury (HI) is a common presentation to the Emergency Department (ED). Most injuries are mild and patients are often discharged directly from ED. However, persistent symptoms and failure to return-to-work are common. Comprehensive advice and a clear pathway if symptoms persist are critical to prevent unnecessary morbidity.

Objectives

To audit the discharge advice and follow-up of patients discharged from an ED with a HI.

Methodology

A Data Collection Tool was used to audit the advice and follow-up guidance given to patients attending St George’s Hospital ED in December 2018 with a HI. Data was audited against the NICE Guidelines for Head Injury: Assessment and Early Management (CG176).

Results

149 patients were identified. 41 (27.5%) were provided with written advice; 53 (35.6%) had no documentation of any HI advice being given; 55 (36.9%) had some documentation of HI advice but no documentation that written material was provided.

Conclusions

A need for improvement in the quality of HI Discharge Advice from ED and access to spe- cialist HI outpatient assessment was identified. Improvements implemented included education of ED staff, new patient information sheet, and direct referral system to a specialist HI clinic. Re-audit is planned following these improvements.

Samia.Elkommos@nhs.net
123  The Incidence of neurological symptoms in patients with traumatic brain injuries and return to work
Authors: McHattie Andrew , Jenkins Peter
Published: May 2022

Objectives

To investigate: 1) The incidence of neurological symptoms in a traumatic brain injury (TBI) clinic; 2) The relationship between symptoms and injury severity; 3) The cause of persistent symptoms; 4) The factors preventing return-to-work

Background

Persistent symptoms after even a mild TBI are common. The diagnosis of post-concussion syndrome is often used in this situation with the assumption that symptoms will self-resolve. However, this is frequently not the case and neurological and neuropsychiatric diagnoses including migraine, BPPV and anxiety often underlie these persistent symptoms.

Methods

66 patients with a range of TBI severities were evaluated in a dedicated TBI clinic. Data was collected on the incidence of neurological symptoms, symptom persistence, and return-to-work rates.

Results

There was a high incidence of neurological diagnoses, particularly migraine and BPPV. Both were associated with an increased odds ratio of failure to return-to-work within 30 days. Migraine, in particular, was a common cause of persistent symptoms.

Conclusions

Neurological diagnoses are common causes of persistent symptoms post-TBI. Their incidence is associated with a failure to return-to-work. Post-concussion syndrome is an unhelpful diagnostic label as it incorrectly assumes self-resolution of symptoms; instead, diagnostic clarity for each individual is necessary to help guide treatment.

andrewwilliam.mchattie@nhs.net
124  MEGAbIT – the role of OPM MEG in assessment and diagnosis In mTBI
Authors: Allen Christopher Martin , Rier Lukas , Halsey Lloyd , Gascoyne Lauren , Dineen Robert , DasNair Roshan , Brookes Matthew , Evangelou Nikos
Published: May 2022

Can those with mild traumatic brain injury (mTBI) be differentiated from non-head injured orthopaedic trauma controls by measuring brain wave activity? These are the preliminary data from MEGAbIT, a MRC Confidence in Concept funded study. Clinical Trials reference:NCT03867513

Whilst most individuals with mTBI recover, a significant proportion have persistent difficulties. These patients have normal routine scans, and consequently a biomarker to understand the neuropathology underly- ing these symptoms is lacking. We have combined ultrahigh field 7T MRI with magnetoencephalography (MEG), to look for structural and functional abnormalities in acute mTBI. Following a systematic review of the MEG mTBI literature, we established that the most robust finding is increased power in the delta frequency band following mTBI. So far, in our study, 10 of the 13 mTBI participants have shown this abnormality.

Comparisons of spectral power between the mTBI cohort and controls in other frequency bands were less sensitive biomarkers of mTBI. Full analysis to be presented will include assessment of whole-brain con- nectivity using amplitude envelope correlation, structural damage using high-resolution susceptibility weighted imaging and structural connectivity using diffusion tensor imaging. Our results are in keeping with publications suggesting that MEG can detect mTBI abnormalities when structural imaging is normal.

christopher.allen@nottingham.ac.uk
130  Does visual imagery vividness have a genetic basis? A genome-wide associa- tion study of 1019 individuals
Authors: Day Jacob , Frayling Timothy , Wood Andrew , Zeman Adam
Published: May 2022

The vividness of visual imagery varies widely between individuals and its extremes are associated with prosopagnosia and synaesthesia. A complete lack of visual imagery, recently termed aphantasia, is typically present from birth and is more common in those with affected family members. It is therefore postulated that there is a genetic component to the variation in visual imagery vividness. To try and identify genetic variants associated with visual imagery vividness we performed a genome-wide association study of 1019 individuals in the Exeter 10000 cohort. Participants who had previously been genotyped were then asked to complete the Vividness of Visual Imagery Questionnaire (VVIQ). We did not identify any variants that reached the genome-wide significance p<5x10–8 level. However, 2 variants in linkage disequilibrium were below the p<5x10–7 level and lie within an intron of the SYT1 gene which encodes a protein important in neuronal synaptic transmission. There were no significant genetic correlations with VVIQ and other publicly available traits. Further work should focus on using larger cohorts which will have greater power to identify variants which account for smaller amounts of VIVQ variance. This would also determine whether the SYT1 variant is truly significant.

jacobday@doctors.org.uk
131  Concurrent presentation of cutaneous vasculitis and Creutzfeldt-Jakob disease
Authors: Nortey Donald , Ah-Chuen Jonathan , Yoganathan Katie , Ananthavarathan Piriyankan , McAuley John
Published: May 2022

A previously well and independent 84-year-old man presented with subacute behavioural disturbance and cognitive decline, progressing over one month to a bedbound encephalopathic state with myoclonus. Examination at that time revealed global cognitive dysfunction, dysarthria, dysphasia, myoclonus and motor pyramidal signs. MRI study revealed widespread high signal on T2-weighted imaging in the hemi- spheric deep white matter, as well as in the right caudate nucleus. EEG revealed frequent periodic triphasic complexes. CSF examination was positive for 14–3–3 and RTQuIC, with S100b 1.2mg/ml, confirm- ing a diagnosis of sporadic Creutzfeldt-Jacob Disease (CJD).

During his admission, we noted the emergence of a vasculitic skin rash over his torso spreading bilater- ally over three days. Punch biopsy confirmed the presence of an acute leucocytoclastic vasculitis not suggestive of a drug-associated rash. Further immunological staining did not detect any abnormal prion protein. The rash persisted until he sadly died 4 weeks after admission.

In the literature, there are only 3 reported cases of cutaneous manifestations of CJD. The emergence of an acute vasculitic rash in the context of confirmed CJD in our case may suggest immune dysregulation associated with the latter’s underlying pathophysiology, a direct manifestation of prion protein (despite negative staining) or an unrelated concurrent presentation.

katieyoganathan@gmail.com
132  Evaluation of the normal pressure hydrocephalus (NPH) service at Wessex Neurological Centre
Authors: Hopkins Molly , Jones Charis , Anwar Durria-Rubat , Kipps Christopher , Pengas George
Published: May 2022

Background

NPH is a condition in which ventriculomegaly occurs due to accumulation of cerebrospinal fluid (CSF). The hallmark symptoms are a triad of abnormal gait, cognitive impairment and urinary inconti- nence. A lumbar puncture (LP) is the main diagnostic test and treatment is via a ventriculoperitoneal shunt.

Aim

To evaluate the current service delivered and to identify factors that may improve the identification of patients most likely to benefit from treatment.

Method

This is a retrospective study including 126 patients referred between January 2015 and September 2017. From clinical notes, variables were recorded including demographics, imaging, presence of dispro- portionally enlarged subarachnoid spaces (DESH), LP results, CSF Alzheimer’s disease (AD) biomarkers, surgery outcome and complications.

Results

The shunt success rate was 78.6% and the complication rate was 9.5%. The positive predictive value of an LP and DESH in predicting good shunt outcome was 82.5% and 77.3% respectively. There was no statistical significance between variables assessed and a positive or negative NPH diagnosis.

Conclusion

Our service had higher surgical success rates and lower complication rates than stated in literature. The most diagnostically accurate test is a LP, this should be done regardless of DESH. Demo- graphics and CSF biomarker analysis were not diagnostically helpful.

mrkh1g17@soton.ac.uk
133  Normal pressure hydrocephalus – factors affecting surgical outcomes
Authors: Carey Charles , Inam Masna , Tsermoulas Georgios , Flint Graham , Jacob Saiju
Published: May 2022

Background

Normal pressure hydrocephalus (NPH) is a disease that causes gait disturbance, urinary incontinence and dementia and is treated through ventriculoperitoneal shunting (VPS). Although CSF infusion studies are currently used to predict the likelihood of improvement following VPS, many see no benefit or deteriorate after initial improvement. It is currently unknown whether preoperative characteristics could predict the likelihood of postoperative improvement.

Aims

To investigate associations between postoperative symptomatic improvement and patients’ mean baseline and plateau CSF pressures, the time between NPH diagnoses and performing VPS, and patients’ age at diagnosis.

Methods

A retrospective audit was performed using data collected between 14/05/2018 and 18/06/2018 from 65 NPH patients treated with VPS at University Hospital Birmingham. Percentages of patients whose symptoms improved and did not improve postoperatively were calculated. Two-tailed unpaired t-tests were performed to analyse associations between the pre-operative factors studied and symptomatic improvement. The level of significance used was p = 0.05.

Results

69.0% of patients with gait disturbance, 52.9% with urinary incontinence and 56.4% with cognitive impairment at baseline showed improvement at their first postoperative follow up. Just 31.0% of patients with gait disturbance, 47.1% with urinary incontinence and 43.6% with cognitive impairment showed improvement at their last postoperative follow up. None of the pre-operative factors studied were associated with significant differences in the rates of symptomatic improvement at patients’ first or last recorded follow ups.

Conclusions

The majority of patients showed improved gait, incontinence, and cognition postoperatively at their first recorded follow up. The mean rates of improvement in all 3 symptoms studied at patients’ last recorded follow up were lower than at their first recorded follow up. There were no associations with symptomatic improvement with the number of weeks between diagnosis and VPS, age at diagnosis, baseline CSF pressure and plateau CSF pressure. saiju.jacob@uhb.nhs.uk
134  Apathy in cerebrovascular small vessel disease is characterised by distinct white matter tract changes
Authors: Saleh Youssuf , Heron Campbell le , Veldsman Michele , Drew Daniel , Plant Olivia , Schulz Ursula , Sen Arjune , Manohar Sanjay , Rothwell Peter , Husain Masud
Published: May 2022

Introduction

Clinical apathy is a poorly understood neuropsychiatric syndrome characterised by a sig- nificant decrease in goal-directed, motivated behaviour. It occurs in ~30% of patients with cerebrovas- cular small vessel disease (SVD). With the aim of improving our mechanistic understanding of apathy, we conducted a multimodal investigation combining validated behavioural paradigms and magnetic resonance imaging (MRI) techniques.

Methods

83 patients with MRI evidence of SVD were recruited from the Oxford Vascular Study (OXVASC) and Oxford neurology clinics. They were investigated using a novel effort-based decision making task and the Apathy Evaluation Scale (AES). Structural and diffusion weighted MRI was conducted to measure white matter lesion load (WMLL) and tract integrity, indexed by Fractional anisotropy (FA).

Results

Patients with apathy demonstrated a significant reduction in motivated behaviour and were sig- nificantly less incentivised by low levels of reward. Diffusion weighted imaging demonstrated that apathy was characterised by focal changes to limbic association tracts, including the uncinate fasciculus and cingulum bundle, as well as fronto-striatal white matter tracts. Importantly, global measures of disease severity did not independently associate with apathy.

Discussion

Reduced incentivisation by low reward characterised apathy in SVD, as previously reported in Parkinson’s disease, suggesting a common mechanism underlying apathy across neurological diseases. The association of apathy with focal white matter tract changes is consistent with disruption to key frontal and fronto-striatal circuits which have been previously implicated in effort-based decision-making for rewards.

youssuf.saleh@ndcn.ox.ac.uk
135  A national audit of service provision for patients with atypical parkinsonian syndrome
Authors: Allen Claire , Ghosh Boyd
Published: May 2022

Introduction

In 2011 the PSP Association commissioned a care pathway for patients with Atypical Par- kinsonian Syndrome (APS). This pathway recommends prompt assessment by a specialist and a MDT approach to outpatient care. We sought to review whether these standards are being met.

Method

Questionnaires were produced and sent as Freedom of Information requests to 127 NHS trusts in England. 65 trusts responded.

Results

8 trusts saw patients in specialist APS clinics, 36 in movement disorder clinics and 21 in general neurology or elderly care clinics. In each setting a therapist or nurse was present in 88%, 53% and 10% of clinics respectively and a named point of contact was provided to patients in 86%, 100% and 62% of clinics respectively. 31/65 trusts provided information on patient numbers. Across these, 1179 patients with APS were seen over a year of which 33% were seen in specialist clinics, 51% in movement disorder clinics and 16% in general clinics.

Conclusion

Our audit suggests that the majority of patients with APS do have access to review by a specialist, however significantly fewer trusts provide a MDT approach to patient care as recommended in the pathway. Further work is required to meet these standards.

c-allen@doctors.org.uk