bluuebunny/crossref_metadata_2025_split huggingface dataset:
CLINICAL FEATURES AND TREATMENT RESPONSE IN A LARGE UK COHORT OF STIFF PERSON SYNDROME PATIENTS
Authors: Sadalage Girija , Karim Abid , Jacob Saiju 
Published: October 2015

Stiff Person syndrome (SPS) is a chronic autoimmune neurological disorder causing muscle stiffness, excessive startle and pain. Patients often have anti-GAD and occasionally anti-amphiphysin antibodies (especially in the paraneoplastic forms). There is no clear age, sex or race predilection clearly identified. Immunomodulatroy therapy with plasma exchange and IVIg is often beneficial in most patients.We systematically looked at patients with a diagnosis of SPS with positive antibodies. 12 of these patients were evaluated in detail for their clinical features, concomitant illness and immunological status. We also evaluated the treatment response of these patients using a locally developed rating scale combining the functional activity and quality of life scores (BRIT scale– submitted as another abstract). Many patients had a long delay between the onset of symptoms and the final diagnosis. It was also noted that a good proportion of patients had certain behavioural and personality changes which could well be attributed to the disease, rather than by chance. More than 80% of patients had significant response to immunomodulatory therapy, although the duration of remission/response was variable.This is one of the largest cohorts of SPS patients looked after in a single centre, which gives an insight into the clinical characterstics and immunological response of this rare neuroimmunological disorder.
PSYCHIATRIC PRESENTATIONS OF AUTOANTIBODY-MEDIATED ENCEPHALITIS
Authors: Matthews Rachael , Hackett Richard , Jones Matthew 
Published: October 2015

BackgroundAntibody-mediated limbic encephalitis refers to a spectrum of inflammatory neurological disease. Patients typically have a syndrome consisting of disorientation, amnesia, seizures and behavioural change. Autonomic disturbance and movement disorders are also observed. There has been recent interest in the potential role of autoantibodies in patients with psychosis without the other clinical features of limbic encephalitis.AimsTo characterise the clinical phenotype of patients presenting to a neuropsychiatry clinic with predominant psychosis and positive autoantibodies. We also aimed to determine if a standardised approach was being taken to their assessment.MethodsRetrospective case note review using a standardised proforma.Results20 patients were identified with prominent psychosis and positive autoantibodies (9 NMDAr, 7 VGKC, 3 GAD, 1 TPO). 7 patients had psychiatric symptoms only. 5 patients had additional clinical symptoms to suggest a diagnosis of limbic encephalitis. 8 patients had prominent psychosis symptoms and only very mild other associated neurological problems making them hard to classify. There was variability in the assessment that patients received.ConclusionsPure psychiatric presentations in patients with positive autoantibodies are observed and further study is required to elucidate the role of such antibodies in the pathogenesis of these disorders.
CEREBRAL VASCULITIS HISTOPATHOLOGY IN RELAPSING POLYCHONDRITIS
Authors: Mbizvo GK , Ellis RJB , Michael BD , Rathi N , Doran M , Crooks D 
Published: October 2015

Central nervous system (CNS) involvement in relapsing polychondritis (RPC) is rare and presumed to be the result of either a vasculitic or an encephalitic process, although there is little in the way of histopathological evidence for these. Understanding the underlying pathological process is important because cognitive decline can be halted or reversed with tailored immunosuppression.We describe here the histopathological features of RPC with CNS involvement in a 65-year-old gentleman that presented with rapidly progressive cognitive decline, fevers and ataxia over six weeks. He had bilateral auricular inflammation with cartilage destruction, but relative lobe sparing, ocular inflammation, and a symmetrical small-joint polyarthropathy.The cerebrospinal fluid showed lymphocytic pleocytosis. Diffuse sub-cortical white matter abnormalities were seen on magnetic resonance imaging. A clinical diagnosis of RPC was made on the basis of McAdam criteria.Routinely stained histological brain sections showed scattered foci of vasculitis associated with multinucleated giant cells (MNGC), T-lymphocytes, neutrophils and eosinophils. The leptomeninges were oedematous and thickened by an increase in loose collagenous tissue, vascular proliferation and inflammatory infiltrate of neutrophils, lymphocytes and plasma cells. PAS staining did not reveal any infective organisms. Auricular histology showed central erosion of the cartilage and mild non-specific inflammation of the skin consistent with clinical impression of RPC.In the context of the clinical diagnosis, our findings help further refine the histopathological understanding of RPC involving the CNS, suggesting a vasculitic rather than encephalitic process. Our histology also showed giant perivascular multinucleated cells as part of the vasculitic process, and this not been described before in the literature.
PILOCYTIC ASTROCYTOMA: A CASE OF NOT SO BENIGN INTRACRANIAL HYPERTENSION
Authors: Appleton Jason Philip , Hayton Tom , Williams Adrian 
Published: October 2015

Idiopathic intracranial hypertension (IIH) is a condition of raised CSF pressure without any apparent structural lesion or problem with venous drainage. We present a lady who was initially diagnosed with IIH, but was later found to have an unusual brain tumour.A 30 year old lady presented in 2012 with a three month history of headaches, nausea and vomiting, two weeks of blurred vision and one week of double vision on looking left. Visual acuity was 6/6 on the right and 6/9 on the left with a left relative afferent pupillary defect, bilateral papilloedema and left lateral rectus palsy. MRI showed ventriculomegaly. Lumbar puncture revealed normal constituents with an opening pressure of 60 cm H2O. In the absence of a space occupying lesion or venous occlusion a diagnosis of IIH was made. A ventriculoperitoneal shunt was inserted and she was discharged but didn't attend follow-up. She re-presented in May 2014 with headaches and intermittent left arm and leg numbness. An MRI revealed widespread CSF pathway infiltration, leptomeningeal enhancement, tonsillar descent and an extensive cervical syrinx. She underwent posterior fossa decompression and biopsy, which was histologically confirmed as pilocytic astrocytoma.Ventriculomegaly is not a feature of IIH. This case illustrates the wide differential of raised CSF pressure and that careful assessment of brain imaging and CSF constituents is required prior to making what is, in effect, a diagnosis of exclusion.
OCKHAM'S RAZOR OR HICKAM'S DICTUM? THE DIAGNOSTIC JOURNEY OF A PATIENT WITH PROXIMAL MYOPATHY
Authors: O'Dowd Sean , Munteanu Tudor , Hardiman Daniel , Langan Yvonne , Brett Francesca , Redmond Janice 
Published: October 2015

A 39-year old Congolese native presented with a ten-year history of myalgia and progressive muscle weakness. He had a known tissue diagnosis of pulmonary, mediastinal and hepatic sarcoidosis, as well as latent tuberculosis. Family history was unavailable. Examination revealed deformity of the distal joints; shoulder girdle and proximal lower limb atrophy; proximal muscle weakness and a waddling gait. CK was 2560 IU/l (normal <290). Plain films of the hands revealed cystic bony change. EMG demonstrated features consistent with a necrotising myopathy. MRI of proximal muscle groups revealed abnormal high signal consistent with myositis. Biopsy of quadriceps was abnormal but failed to demonstrate features consistent with inflammation. A second biopsy targeted the deltoid- again no convincing evidence of inflammation was present; no granulomata were detected; the possibility of an underlying inherited myopathy was queried. The patient continued to experience progressive muscle symptoms. A third muscle biopsy of the contralateral deltoid was ultimately diagnostic, demonstrating a number of non-caseating granulomata.Symptomatic sarcoid myopathy is rare, although the literature suggests high rates of asymptomatic muscle involvement. Securing an accurate diagnosis in this case was essential in order to guide appropriate use of immunosuppression. The clinical features and management of sarcoid myopathy are reviewed.
TIMELINESS OF MOTOR NEURONE DISEASE CARE– DIAGNOSIS TO SERVICE ACCESS
Authors: Shanmugarajah Priya Devi , Tuttle Linda , Jung Agam 
Published: October 2015

BackgroundMND is a rapidly progressive incurable neurodegenerative condition. The unpredictable rate of deterioration poses challenges to timely seamless co-ordinated care delivery. We performed an audit mapping time intervals of the patient's journey at the Leeds MND Centre to inform local service development.ObjectivesEvaluate the time period from symptom onset to referral, diagnosis and access to multidisciplinary services.MethodRetrospective medical records review for newly diagnosed patients between 2010–2012. Time intervals were compared with MNDA Standards of Care and King's MND pathway.Results33 case notes were analysed. Median symptom onset to neurology referral was 36 weeks. Diagnosis was confirmed within 5 weeks. Post diagnosis nurse specialist review was within 2 weeks; however MDT review and consultant follow-up did not meet standards.DiscussionThis audit identified the lack of a standardised diagnostic and referral pathway. It resulted in significant service review and redesign. Measurement of specific time intervals can be a practical and relevant measure for assessing variation in quality of care. The limitations of a modest sample size and limited time frames can be overcome by a national prospective audit. This will identify delays in both diagnosis and multidisciplinary team access thus ensuring equitable provision of services for patients.
ANALYSIS OF AN ADULT DUCHENNE MUSCULAR DYSTROPHY POPULATION: TEN YEARS ON
Authors: Wu Kit , Rigaudy Axelle , Christodoulou Loucas , Okello Aren , Ballard Emily , Hart Nicholas , Howard Robin 
Published: October 2015

BackgroundDuchenne muscular dystrophy (DMD) is a progressive, multi-systemic condition, management of which has benefitted from improvements in research and healthcare.Aim1. To review the multidisciplinary management of a late adolescent and adult DMD population attending the Lane Fox Respiratory Unit. 2. To compare the findings to those of an audit conducted 10 years previously (Parker et al, QJM. 2005.), so to identify areas of improvement and issues that require further input.MethodWe studied 30 patients with DMD referred to an adult neuromusclular clinic over a ten-year period. Clinical details were obtained from case notes or direct observations.ResultsThe age for our cohort ranged from 19 to 49 years, all of whom became symptomatic before ten years old. Nine patients died during the study period. 25 patients were wheelchair bound in their mid-teens. Over the last ten years, areas of improvement include provision of non-invasive ventilation, provision of aids, and access to education (9/30 of our cohort attended university or college, and three patients are in active employment). Areas of care that need further input are management of mood, bowel hygiene, fatigue and pain.DiscussionDespite improvements in several areas, there is still a need for a consistent and multi-faceted approach to management of DMD.
PARANEOPLASTIC NMO AND REVIEW OF MRI FINDINGS IN 18 NMO PATIENTS
Authors: Mistry Niraj , Jacob Saiju 
Published: October 2015

A 79-year-old lady was admitted with rapid onset weakness in both legs with a mid-throacic sensory level. She had a preceding history of viral upper respiratory infection. She was recently treated for breast cancer 12 months' previously. Within 24 hours she developed complete paraplegia and the MRI scan revealed extensive T2W high signal changes throughout the spinal cord with discrete contrast enhancement and expansion of the cord. CSF showed 7 mononuclear cells with low CSF glucose (vs serum) and high CSF protein. Investigations revealed positive aquaporin-4 antibodies and she rapidly improved after a course of intravenous steroids followed by oral steroid taper. Extensive screen for an underlying malignancy was negative. Given the temporal relationship with cancer, a diagnosis of possible paraneoplastic syndrome was made as per established criteria (Graus et al. 2004).We took this opportunity to review the MRI findings in 18 of our recent NMO patient cohort (15 aquaporin-4 antibody positive, 1 anti-MOG positive and 2 seronegative). We compared this against the established radiological criteria (Miller DH et al, 2008) for NMO.We discuss the possibility of NMO being a rare paraneoplastic phenomenon and review the radiological findings in our cohort of NMO patients against established criteria.
LUNG CANCER BRAIN METASTASES: FACTORS ENHANCING TUMOUR CELL ADHESION
Authors: Gutowski N , Rai S , Whatmore J 
Published: October 2015

Metastatic lung cancer cell arrest along brain microvasculature maybe mediated by interactions between ligands on circulating tumour cells and E-selectin adhesion molecules on brain endothelial cells, which are shielded by a dense endothelial glycocalyx layer. We previously identified proteins, including vascular endothelial growth factor (VEGF) and tumour necrosis factor-alpha (TNF-α), in A549 and SK-MES-1 lung tumour conditioned media, which enhance tumour cell adhesion to human brain microvascular endothelial cells (HBMECs).AimTo examine whether increased lung tumour/HBMEC adhesion is a consequence of VEGF and TNF-α-induced brain endothelial glycocalyx degradation subsequently enhancing E-selectin exposure.MethodsFollowing treatment with 0.2 ng/ml VEGF and 160 pg/ml TNF-α, endothelial glycocalyx changes were measured by binding of fluorescein isothiocyanate-linked wheat germ agglutinin (WGA-FITC). E-selectin levels were quantified by ELISA.ResultsBoth VEGF and TNF-α significantly reduced WGA-FITC staining of HBMEC glycocalyx by more than 20% to 74±5.2% and 77±3.8%, respectively compared to control (100%) (p≤0.05, n=6). After 30mins, enhanced E-selectin levels were also observed (VEGF: 146±41.0% and TNF-α: 122±11.2%) (p=0.037, n=3).ConclusionLung tumour cell secreted VEGF and TNF-α enhance lung tumour cell adhesion to HBMECs by inducing endothelial glycocalyx degradation revealing previously ‘hidden’ E-selectin.
LYMPHOMATOSIS CEREBRI: A TREATABLE CAUSE OF RAPIDLY PROGRESSIVE DEMENTIA
Authors: Samani Amit , Davagnanam Indran , Cockerell Oliver Charles , Ramsay Alan , Patani Rickie , Chataway Jeremy 
Published: October 2015

We describe a case of lymphomatosis cerebri (LC), an extremely rare variant of Primary Central Nervous System Lymphoma (PCNSL) characterised by diffuse infiltration of brain parenchyma by a non-cohesive mass of malignant lymphocytes.A 50 year-old lady presented with rapidly progressive cognitive decline. Neuropsychometric testing showed global cognitive deficits with magnetic resonance imaging of the brain showing diffuse T2-weighted white matter hyperintensity. Initial impression included metachromatic leukodystrophy however after a series of normal investigations, and clinicoradiological deterioration, a decision was made to proceed to brain biopsy which showed LC. Following chemoradiotherapy she regained the ability to ambulate independently and her cognitive state improved.PCNSL typically presents as discrete gadolinium-enhancing T2 hyperintense lesions. Very rarely it presents as LC, usually manifest as rapidly progressive cognitive decline and leukoencepahlopathy. Complete remission of LC has been achieved with steroid use followed by radiotherapy, cisplatin or methotrexate. Although there are many causes of rapidly progressive leukoencephalopathy, rapid progression of structural change, perhaps combined with new foci of enhancement, should prompt thoughts of an underlying neoplastic process and the need for biopsy. This case highlights the diagnostic (and potential therapeutic) importance of early consideration of brain biopsy in patients with rapidly progressive atypical neurological syndromes
USING TRANSCRANIAL MAGNETIC STIMULATION (TMS) TO PROBE EFFECTS OF VISUAL MOTION ADAPTATION ON PRIMARY VISUAL CORTEX (V1) EXCITABILITY IN BILATERAL VESTIBULAR FAILURE (BVF) PATIENTS
Authors: Ahmad Hena , Roberts Richard , Arshad Qadeer Arshad , Patel Mitesh , Bronstein Adolfo 
Published: October 2015

Background and aimPatients with BVF report oscillopsia due to a defective vestibulo-ocular reflex causing retinal slip. No previous studies have probed visual cortical excitability using TMS and visual motion processing in these patients. We investigated the effects of visual motion adaptation on V1 cortical excitability in BVF patients and correlated this with psychophysical parameters.Methods12 BVF patients (7 males) aged 29–65 (mean=54.5) and 12 controls (6 males) aged 42–73 (mean=55) were recruited. Biphasic TMS pulses were applied at V1 and phosphene threshold (PT) was estimated. 3 measurement phases were (1) Stationary (2) Motion with optokinetic stimulation (OKS) Adaptation: OKS rightwards for 5 minutes 3) Post adaptation during viewing motion. All subjects completed questionnaires prior to the experiment. Results were analysed offline by calculating the probability of phosphene perception.ResultsBaseline phosphene thresholds were significantly higher in BVF patients (p=0.024) reflecting reduced visual cortical excitability. Lower oscillopsia scores correlated with reduced baseline V1 excitability (p=0.009).ConclusionsThis novel finding acts as a neurophysiological correlate for clinical observations of adaptive visual motion perception and is also correlated with psychophysical parameters. These results provide evidence for adaptive mechanisms leading to cortical plasticity following BVF.
FOWLER'S SYNDROME OF URINARY RETENTION: A RETROSPECTIVE STUDY OF CO-MORBIDITY
Authors: Hoeritzauer Ingrid , Stone Jon , Fowler Clare , Elneil Sohier , Carson Alan , Panicker Jalesh 
Published: October 2015

AimsTo study the frequency of pain, psychological or functional disorders in patients with Fowler's syndrome.MethodsWe carried out a retrospective chart review of patients with a diagnosis of Fowler's syndrome attending the Uro-Neurology centre at the National Hospital for Neurology and Neurosurgery between 2009–2013 looking at triggering events, physical and psychological comorbidities.ResultsOf 62 patients with clinical and electromyographic diagnosis of Fowler's syndrome, 31 (50%) had unexplained chronic pain syndromes, 12 (19%) of these were taking opiates. 15 (24%) had ‘functional’ neurological symptoms. Abdominopelvic surgery with general anaesthesia was the leading trigger (n=21, 35%).ConclusionsWe found high levels of co-morbidity with patients having some form of pain (50%), a probable functional disorder (24%) or psychological symptoms (31%). There are several potential explanations for this association including the effect of developing an apparently unexplained distressing condition, confounding effect of opiate use or referral bias. The findings suggest a need for prospective systematic study of comorbidity for this disabling condition.
BILATERAL INTERNAL CAROTID ARTERY DISSECTION WITH CONFUSION
Authors: Kapoor Ambika , Chinthapalli Krishna , Warner Graham 
Published: October 2015

Bilateral internal carotid artery (ICA) dissections are rare. Typical clinical presentation includes cerebral ischaemia, neck/headache, Horner's syndrome & pulsatile tinnitus1.We present a forty-two year old right-handed man admitted to hospital with a ten day gradual onset headache, altered taste, widespread cognitive impairments, horizontal diplopia and a right Horner's syndrome. There was no history of trauma. Brain magnetic resonance imaging revealed multiple small embolic infarcts in carotid territories of both cerebral hemispheres. Computed tomography angiogram (CTA) of intracranial and extracranial vessels revealed occlusion of the left ICA and attenuation of the right ICA below the skull base.Symptoms resolved within 3–5 days of starting sub-cutaneous low molecular weight heparin and he was then anticoagulated with warfarin for six months. Repeat CTA at 4 months showed persisting complete left ICA occlusion but complete recanalisation of the right ICA.This is the first description of cognitive changes following bilateral ICA artery dissections. Whilst ICA dissection presentations are usually explained by embolic phenomena or local effects upon ICA walls, the mechanism here is probably due to cerebral hypoperfusion. Cognitive assessment should be performed in all patients presenting with ICA dissection especially when it is bilateral.
ARE SUBTHALAMICUS NUCLEUS, INTERNAL GLOBUS PALLIDUS AND THALAMUS INVOLVED IN THINKING?
Authors: Minks Eduard , Jurák Pavel , Chládek Jan , Hummelová Zuzana , Halámek Josef , Minksová Alexandra , Bareš Martin 
Published: October 2015

IntroductionThe aim was to compare evoked potentials (EP) from the P300 paradigm against mismatch negativity (MMN) paradigm, both recorded in the subthalamic nucleus (STN), internal globus pallidus (GPi) and thalamus (Th) and thus electrophysiologically isolate conscious cognition component in these structures.MethodsWe included 8 patients in Deep brain stimulation program and recorded EP (patients with Parkinson's disease, Generalized dystonia, Essential tremor, Epilepsy). The two four-contacts intracerebral electrodes were implanted into the left and right STN, GPi or Th bilaterally. We computed local potentials on the left and right electrode and we studied the latency of cognitive response (from 200 to 400 ms).ResultsIn the comparison of infrequent stimuli related P300 and MMN a significant difference was found in 14 from 16 electrodes. Comparing frequent answers we found significant difference in 13 from 16 electrodes.ConclusionThe difference between evoked potentials of MMN and P300 protocols in 200–400 ms latency suggests that STN, GPi and Th are involved in conscious cognitive processes at the time of stimuli application.
SIMILARITIES IN ARTERIAL ARRIVAL TIME PROLONGATION AND POSTERIOR HYPOPERFUSION IN PATIENTS WITH IDIOPATHIC PARKINSON'S DISEASE AND STROKE
Authors: Al-Bachari Sarah , Vidyasagar Rishma , Silverdale Monty , Emsley Hedley , Parkes Laura 
Published: October 2015

The relevance of impaired neurovascular function in idiopathic Parkinson's disease (IPD) is unknown. Furthermore, it is unknown whether any such changes might contribute to, or be the effect of, neurodegeneration, or potentially reflect comorbid cerebrovascular disease (CVD). MRI arterial spin labelling (ASL) is a suitable, non-invasive tool for quantifying cerebral haemodynamics including measurements of cerebral blood flow (CBF) and arterial arrival time (AAT). Prolonged AAT has been attributed to increased collateral circulation, chronic vasodilatation and/or increased tortuosity of vessels.12 subjects with CVD (mean age 68.9±7.8), 19 tremor dominant (TD) IPD subjects (mean age 67.2±0.6), 17 postural instability and gait dominant (PIGD) IPD subjects (mean age 70.7±6.6) and 23 control subjects (mean age 65.1±5.7) completed a 3T MRI scanning protocol, including ASL. CVD subjects had significantly more cerebrovascular risk factors than the other groups. A significant widespread increase in baseline AAT was seen in IPD (both TD and PIGD) and CVD groups when compared to controls. Voxel-based analysis of CBF revealed significant focal hypoperfusion (predominantly posteriorly) in the TD, PIGD and the CVD groups when compared to controls.These novel findings suggesting similar alterations in cerebral haemodynamics in IPD and CVD groups merit further study.