A5014472577- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Neurological and metabolic disorders
- Autoimmune Neurological Disorders and Treatments
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Voice and Speech Disorders
- Cellular transport and secretion
- Assistive Technology in Communication and Mobility
- Congenital Heart Disease Studies
- Obsessive-Compulsive Spectrum Disorders
- Attention Deficit Hyperactivity Disorder
- Autism Spectrum Disorder Research
- Psychosomatic Disorders and Their Treatments
- Cardiovascular Syncope and Autonomic Disorders
- Cerebral Palsy and Movement Disorders
- Stroke Rehabilitation and Recovery
- Lysosomal Storage Disorders Research
Cardiff University
2016-2025
University Medical Center Utrecht
2024
Cardiff and Vale University Health Board
2024
University Hospital of Wales
2024
Health and Care Research Wales
2023
Mental Health Research Institute
2017-2022
Genomics England
2020
Leiden University Medical Center
2020
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Myoclonus-dystonia (M-D) is a rare movement disorder characterized by combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent major cause for familial M-D being responsible 30%–50% cases. After excluding mutations, we identified through linkage analysis whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in dominant British pedigree with seven subjects affected M-D. A subsequent screening cohort cases without revealed same German...
Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. Previous studies have suggested that patients with may an increased rate psychiatric disorders. We established cohort determine extent which disorders form part disease phenotype. In all, 89 clinically suspected were recruited from UK Ireland. was...
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number causative genes have not yet been recognized. We aimed to investigate this paucity diagnoses. Methods undertook weighted burden analysis whole‐exome sequencing (WES) data from 138 individuals unresolved generalized etiology, followed by additional case‐finding international databases, first for the gene implicated ( VPS16 ), and then other functionally...
ABSTRACT Background : Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next‐generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether patients with a suspected genetic cause could benefit from the use analysis. Methods In post hoc study, we describe results 61 (mean age, 31 years; 72% young onset) our tertiary referral center....
Objective Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates psychiatric disorders amongst SGCE mutation-positive populations. We analyzed the data from four international centers, forming largest cohort to date, further determine extent type in M-D. Methods...
Abstract Monitoring of Parkinson’s disease (PD) has seen substantial improvement over recent years as digital sensors enable a passive and continuous collection information in the home environment. However, primary focus this work been motor symptoms, with little on non-motor aspects disease. To address this, we combined longitudinal clinical assessment data multi-sensor from Verily Study Watch for 149 participants Progression Initiative (PPMI) cohort diagnosis PD. We show that digitally...
Aim Benign hereditary chorea is a dominantly inherited, childhood‐onset hyperkinetic movement disorder characterized by non‐progressive and variable degrees of thyroid respiratory involvement. Loss‐of‐function mutations in NKX 2.1, gene vital to the normal development function brain, lungs, thyroid, have been identified number individuals. Method Clinical data from individuals with benign through paediatric neurology services were collected standardized format. The 2.1 was analysed Sanger...
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The caused by mutations to the <em>NKX2.1</em> (<em>TITF1</em>) gene and also forms part ''brain–lung–thyroid syndrome'', in which additional developmental abnormalities lung thyroid tissue are observed. In this review, we summarize main clinical findings ''classical'' BHC syndrome discuss more recently reported atypical features, including...
<h3>Objective</h3> To determine the contribution of electrophysiologic testing in diagnosis and anatomical classification myoclonus. <h3>Methods</h3> Participants with a clinical myoclonus were prospectively recruited, each undergoing videotaped examination battery tests. The its subtype was reviewed after 6 months context findings specialist review examination. <h3>Results</h3> Seventy-two patients recruited. Initial included 25 cortical myoclonus, 7 subcortical 2 spinal 15 functional...
ABSTRACT Background and Objective The objective of this study was to better delineate the genetic landscape key clinical characteristics complex, early‐onset, monogenic hyperkinetic movement disorders. Methods Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, data. Two pediatric disorder experts reviewed available video footage, classifying movements according published criteria. Results One...
Abstract Objective Dystonia is one of the most common forms movement disorder with >50 genes identified as causative. However, an understanding which developmental stages, brain regions and cell types are relevant crucial for developing disease models therapeutics. One approach to examine timing anatomical expression dystonia-causing genes, on assumption that deleterious variants have a greater impact where higher levels observed. Methods We investigated patterns 44 across two bulk-...
Abstract Transplantation of human fetal ventral mesencephalic tissue in individuals with Parkinson’s disease has yielded clinical benefits but also side effects, such as graft-induced dyskinesias. The open-label TransEuro trial ( NCT01898390 ) was designed to determine whether this approach could be further developed into a clinically useful treatment. Owing poor availability tissue, only 11 were grafted at two centers using the same preparation protocol different implantation devices. No...
Inborn errors of metabolism (IEM) form an important cause movement disorders in children. The impact metabolic diseases and concordant upon children's health-related quality life (HRQOL) its physical psychosocial domains functioning has never been investigated. We therefore conducted a case study on the HRQOL development adaptive children with IEM disorder.Children co-existent were recruited from paediatric outpatient clinics. systematically collected clinical data videotaped examinations....
Abstract View Supplementary Video 1 Background The Burke‐Fahn‐Marsden Dystonia Rating Scale is a universally applied instrument for the quantitative assessment of dystonia in both children and adults. However, immature movements by healthy young may also show “dystonic characteristics” as consequence physiologically incomplete brain maturation. This could implicate that scale scores are confounded pediatric age. Objective In children, we aimed to determine whether postures can induce an...
Abstract The spectrum of non-motor symptoms in dystonia remains unclear. Using UK Biobank data, we analysed clinical phenotypic and genetic information the largest cohort reported to date. Case–control comparison matched control was undertaken identify domains (psychiatric, pain, sleep cognition) increased symptom burden dystonia. Whole exome data were used determine rate likely pathogenicity variants Mendelian inherited causing genes linked data. Within cohort, single-nucleotide...
Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with combined motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited dystonic disorders caused by mutations in ε-sarcoglycan (SGCE) gene. Work to date suggests that disruption neuronal networks, principally basal ganglia-cerebello-thalamo-cortical circuits. Investigation cortical involvement has primarily focused on interneuron inhibitory activity, rather than excitatory activity...