Marios Hadjivassiliou
University of Sheffield
Internal medicinePathologyAntibodyNeurologyTissue transglutaminasePediatricsImmunologyBiopsyGlutenEnteropathyDiseasePeripheral neuropathyCerebellar ataxiaCoeliac diseaseAtaxiaGluten sensitivityGluten freeSerologyMedicineGastroenterology
Publications 247
#1Riccardo Currò (UNIPV: University of Pavia)H-Index: 2
#2Alessandro Salvalaggio (UNIPD: University of Padua)H-Index: 9
Last. Andrea Cortese (UNIPV: University of Pavia)H-Index: 18
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After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopa...
3 CitationsSource
BACKGROUND Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progression outside the context of paraneoplastic cerebellar degeneration require prompt diagnosis and early access to disease-modifying immunotherapy in order to avert severe and permanent neurological disability. CASE PRESENTATIONS We describe three cases of rapid-onset Gluten Ataxia, an...
#1Marios Hadjivassiliou (Royal Hallamshire Hospital)H-Index: 53
#2Iain D. Croall (University of Sheffield)H-Index: 3
Last. Nigel Hoggard (University of Sheffield)H-Index: 28
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We have previously shown that 67% of patients with newly diagnosed coeliac disease (CD) presenting to gastroenterologists have evidence of neurological dysfunction. This manifested with headache and loss of co-ordination. Furthermore 60% of these patients had abnormal brain imaging. In this follow-up study, we re-examined and re-scanned 30 patients from the original cohort of 100, seven years later. There was significant reduction in the prevalence of headaches (47% to 20%) but an increase in th...
#1Lewis Kass-Iliyya (University of Sheffield)H-Index: 1
#2Ptolemaios G. Sarrigiannis (University of Sheffield)H-Index: 17
Last. Marios Hadjivassiliou (University of Sheffield)H-Index: 53
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Gluten sensitivity can manifest with a spectrum of neurological dysfunction including ataxia, encephalopathy and neuropathy with or without associated coeliac disease (CD). Gluten sensitivity can also present with central nervous system (CNS) hyperexcitability and cortical myoclonus which is often accompanied with refractory CD. CNS hyperexcitability can also be associated with Glutamic Acid Decarboxylase (GAD) antibodies or much less commonly with Glycine Receptor Antibodies (GlyR-Abs) but the ...
#1Sarah H Coleman (Royal Hallamshire Hospital)
#2Anupam Rej (Royal Hallamshire Hospital)H-Index: 6
Last. David S. Sanders (Royal Hallamshire Hospital)H-Index: 81
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Background and Aims: Methods of assessing gluten-free diet (GFD) adherence in adults with coeliac disease (CD) include serological testing, dietitian evaluation, questionnaires and repeat duodenal biopsies. Persisting villous atrophy (VA) is associated with CD complications, however gastroscopy with biopsies is expensive and invasive. This study aimed to assess the abilities of a duodenal bulb (D1) biopsy and the Celiac Dietary Adherence Test (CDAT) to detect persisting VA in adults with CD. Met...
#1Neringa Jurkute (UCL: University College London)H-Index: 8
#2Priya D. Shanmugarajah (Royal Hallamshire Hospital)H-Index: 4
Last. Gavin Arno (UCL: University College London)H-Index: 26
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Purpose The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants. Methods Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as part of the National Institute for Health Research BioResource rare-disease and the UK's 100,000 Genomes Project (100KGP) with an additional case identified by exome sequencing. Retrospective clinical data...
#2Panagiotis ZisH-Index: 24
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Stiff person syndrome (SPS) is a rare autoimmune disease characterised by axial stiffness and episodic painful spasms. It is associated with additional autoimmune diseases and cerebellar ataxia. Most patients with SPS have high levels of glutamic acid decarboxylase (GAD) antibodies. The aetiology of SPS remains unclear but autoimmunity is thought to play a major part. We have previously demonstrated overlap between anti-GAD ataxia and gluten sensitivity. We have also demonstrated the beneficial ...
#1Marios Hadjivassiliou (Royal Hallamshire Hospital)H-Index: 53
#2Graeme WildH-Index: 5
Last. Mohammed AkilH-Index: 28
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BACKGROUND AND PURPOSE Immune mediated cerebellar ataxias account for a substantial proportion of all progressive ataxias. A diagnostic serological test is not always available. This is particularly problematic in Primary Autoimmune Cerebellar Ataxia, hence the necessity for diagnostic criteria recently devised and published by an International Task Force. We present our experience in the use of a commercially available indirect immunofluorescence assay, intended to be used for the detection of ...
#1Iain D. Croall (University of Sheffield)H-Index: 3
#2Nigel Hoggard (University of Sheffield)H-Index: 28
Last. Marios HadjivassiliouH-Index: 53
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An expanding body of literature is examining connections between Autism Spectrum Disorder (ASD) and dietary interventions. While a number of specialist diets have been suggested as beneficial in ASD, gluten has received particularly close attention as a potentially exacerbating factor. Reports exist suggesting a beneficial effect of the gluten-free diet (GFD) in ameliorating behavioural and intellectual problems associated with ASD, while epidemiological research has also shown a comorbidity bet...