The ReAct project: Analysis of data from 23 different laboratories to characterise DNA recovery given two sets of activity level propositions.

The ReAct (Recovery, Activity) project is an ENFSI (European Network of Forensic Science Institutes) supported initiative comprising a large consortium of laboratories. Here, the results from more than 23 laboratories are presented. The primary purpose was to design experiments simulating typical casework circumstances; collect data and to implement Bayesian networks to assess the value (i.

What is the Role of Measuring Urinary Gluten Immunogenic Peptides in Clinical Practice in Patients with Coeliac Disease?

Background And Aims: In coeliac disease, the clinical role of the urinary gluten immunogenic peptide is unclear. It has been suggested it can be a non-invasive marker of villous atrophy. Therefore, we present the largest cross-sectional clinical data in patients with coeliac disease to establish the diagnostic accuracy of the urinary gluten immunogenic peptide in identifying villous atrophy.

Antigliadin antibodies and the brain in people without celiac disease: a case-control study.

Background: Anti-gliadin antibodies (AGA) occur in approximately 10% of the general population, produced as a response to gluten. Autoimmune gluten-related disorders can have detrimental neurological effects if not properly controlled but the relevance of such "incidental" AGA is not properly established; any harm caused would indicate the gluten-free diet as a means for affected people to protect their brain health. We explored this question by comparing brain MRI scanning, cognitive testing and other measures between healthy volunteers with and without AGA.

Sensory Symptoms without Structural Pathology in Patients with Gluten Sensitivity.

Unlabelled: We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural pathology.

Methods: The patients were selected from the gluten neurology clinic based at the Royal Hallamshire Hospital, Sheffield, UK, on the basis of sensory symptoms but normal neuroaxis imaging and peripheral nerve evaluation.

Results: A total of 30 patients were identified with a mean age at presentation of 47 years.

Cerebellar degeneration in gluten ataxia is linked to microglial activation.

Gluten sensitivity has long been recognized exclusively for its gastrointestinal involvement; however, more recent research provides evidence for the existence of neurological manifestations that can appear in combination with or independent of the small bowel manifestations. Amongst all neurological manifestations of gluten sensitivity, gluten ataxia is the most commonly occurring one, accounting for up to 40% of cases of idiopathic sporadic ataxia. However, despite its prevalence, its neuropathological basis is still poorly defined.

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat.

The Role of Nutrition in Neurological Disorders.

The interplay between nutrition and neurology has gained increasing recognition and various studies have emerged showing malnutrition and nutritional imbalances as a cause and result of certain neurological pathologies [...

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Background: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP ) receptor type 1 (IP R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital spinocerebellar ataxia type 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. The pathophysiological basis of the different phenotypes is poorly understood.

Maternally Inherited Diabetes and Deafness (MIDD) - Atypical Clinical Diabetes Features Leading to the Diagnosis.

Maternally inherited diabetes and deafness (MIDD) syndrome refers to a rarely diagnosed disorder caused by pathogenic variants in mtDNA. It was first identified in 1992 and, to date, is considered underdiagnosed because of misclassification to type 1 or type 2 diabetes mellitus. MIDD reflects a multisystem metabolic syndrome commonly resulting in insulin-requiring diabetes and sensorineural deafness but can also lead to a broad range of other manifestations.

Repeat expansions in are a cause of spinocerebellar ataxia Type 36 in the British population.

Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the gene and is characterized by late-onset ataxia, sensorineural hearing loss and upper and lower motor neuron signs, including tongue fasciculations.

IgG4 Disease-Related Ataxia.

We describe a male patient presenting with cerebellar ataxia and behavioural frontotemporal dementia in whom imaging showed cerebellar atrophy. He had significantly low N-acetyl aspartate to creatine (NAA/Cr) area ratio on MR spectroscopy of the cerebellum, primarily affecting the vermis. CT body scan showed extensive abnormal tissue within the mesentery, the retroperitoneum and perinephric areas.

A Single-Sensor Approach to Quantify Gait in Patients with Hereditary Spastic Paraplegia.

Hereditary spastic paraplegia (HSP) is characterised by progressive lower-limb spasticity and weakness resulting in ambulation difficulties. During clinical practice, walking is observed and/or assessed by timed 10-metre walk tests; time, feasibility, and methodological reliability are barriers to detailed characterisation of patients' walking abilities when instrumenting this test. Wearable sensors have the potential to overcome such drawbacks once a validated approach is available for patients with HSP.

Can CANVAS due to biallelic expansions present with pure ataxia?

Background: Biallelic expansion of AAGGG in the replication factor complex subunit 1 () was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, or SG) and vestibular areflexia syndrome (CANVAS). We wanted to clarify if expansions can present with pure ataxia and if such expansions could be responsible for some cases where an alternative diagnosis had been made.

Methods: We identified patients with a combination of ataxia and SG and no other cause found, patients where an alternative diagnosis had been made, and patients with pure ataxia.

Encephalopathy with Guillain-Barré syndrome: seek a different cause.

A 30-year-old woman developed symptoms, signs and neurophysiology consistent with Guillain-Barré syndrome and was admitted to the neurosciences intensive care unit owing to respiratory compromise. Here, she received a clonidine infusion for agitation, complicated by a minor hypotensive episode, following which she became unconscious. MR scan of the brain showed changes compatible with hypoxic brain injury.

Cerebral hemodynamic changes to transcranial Doppler sonography in celiac disease: A pilot study.

Background: Sonographic mesenteric pattern in celiac disease (CD) suggests a hyperdynamic circulation. Despite the well-known CD-related neurological involvement, no study has systematically explored the cerebral hemodynamics to transcranial Doppler sonography.

Materials And Methods: Montreal Cognitive Assessment (MoCA) and 17-item Hamilton Depression Rating Scale (HDRS) were assessed in 15 newly diagnosed subjects with CD and 15 age-, sex-, and education-matched healthy controls.

ClearSpeechTogether: a Rater Blinded, Single, Controlled Feasibility Study of Speech Intervention for People with Progressive Ataxia.

Background: Progressive ataxias frequently lead to speech disorders and consequently impact on communication participation and psychosocial wellbeing. Whilst recent studies demonstrate the potential for improvements in these areas, these treatments generally require intensive input which can reduce acceptability of the approach. A new model of care-ClearSpeechTogether-is proposed which maximises treatment intensity whilst minimising demands on clinician.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Purpose: Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results from cohort-based burden analyses.

Methods: Gene-burden analyses were performed on exome and genome data of independent cohorts of patients with hereditary ataxia and spastic paraplegia from Germany and the United Kingdom in a total of 3169 patients and 33,141 controls.

Non-Responsive and Refractory Coeliac Disease: Experience from the NHS England National Centre.

Unlabelled: We characterised the aetiology of non-responsive coeliac disease (NRCD) and provided contemporary mortality data in refractory coeliac disease (RCD) from our centre. We also measured urine gluten immunogenic peptides (GIPs) in patients with established RCD1 to evaluate gluten exposure in these individuals.

Methods: This was a longitudinal cohort study conducted in Sheffield, UK.