A5071427141- DNA Repair Mechanisms
- Genetic Neurodegenerative Diseases
- Carcinogens and Genotoxicity Assessment
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Cancer-related Molecular Pathways
- Head and Neck Anomalies
- Polyomavirus and related diseases
- Childhood Cancer Survivors' Quality of Life
- Enterobacteriaceae and Cronobacter Research
- Radiation Therapy and Dosimetry
- Cancer, Hypoxia, and Metabolism
- Occupational and environmental lung diseases
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Genetic factors in colorectal cancer
- Parkinson's Disease Mechanisms and Treatments
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Cleft Lip and Palate Research
Radboud University Nijmegen
2015-2025
Radboud University Medical Center
2017-2025
Amalia Kinderziekenhuis
2022
University Medical Center
2018-2020
University of Birmingham
2018
Addenbrooke's Hospital
2018
Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. An increased risk of malignancies respiratory diseases dramatically reduce life expectancy. To better counsel families, develop individual follow-up programs, select patients for therapeutic trials, more knowledge needed on factors influencing survival. This retrospective cohort study 61 AT shows that classical had shorter survival than variant (HR 5.9, 95%CI 2.0-17.7),...
Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of largest established cohort individuals with variant and explore genotype-phenotype correlations.
Abstract Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines clinical decision support systems for exome sequencing (ES) tend focus on small alterations such as single nucleotide (SNVs) insertions-deletions shorter than 50 base pairs (indels). Additionally, detection interpretation of copy-number (CNVs) are frequently...
Treatment of animal models with ataxia telangiectasia (A-T) nicotinamide riboside (NR) improved their neurological outcome and survival.
Abstract Objective Patients with classic ataxia–telangiectasia (A–T) generally die in the second or third decade of life. Clinical descriptions A–T tend to focus on symptoms at presentation. However, during course disease, other and complications emerge. As long-term survivors develop a complex multisystem disorder largely unknown extent severity, we aimed comprehensively assess their full clinical picture. Methods Data from Dutch patients above age 30 years were retrospectively collected....
The diagnosis of rare movement disorders is difficult and specific management programmes are not well defined. Thus, in order to capture assess care needs, the European Reference Network for Rare Neurological Diseases has performed an explorative need survey across all Union (EU) countries.This a multicentre, cross-sectional study. A about different (group 1, dystonia, paroxysmal dyskinesia neurodegeneration with brain iron accumulation; group 2, ataxias hereditary spastic paraparesis; 3,...
Aim To investigate the characteristics and severity of dysarthria in children adults with ataxia telangiectasia. Method All telangiectasia who visited our multidisciplinary outpatient clinic for were asked to participate this study, which took place March 2019. evaluate dysarthria, we used Radboud Dysarthria Assessment (older than 18y) paediatric (5–18y), including observational tasks ‘conversation’ ‘reading’, speech‐related maximum performance ‘repetition rate’, ‘phonation time’,...
Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington’s disease (HD), interventions are currently being tested in different clinical trial phases. The patient’s perspective on should be included the further development implementation of these new treatments. Objective: To obtain insight into thoughts perspectives individuals with SCA HD interventions. Methods: In this...
AimNeurofilament light chain (NfL) is recognized as a blood biomarker in several neurodegenerative disorders, but its possible relevance Ataxia Telangiectasia (A-T) has not been examined. The aim of this study was to investigate the potential NfL concentrations patients with A-T.MethodBlood (serum/plasma) were measured Dutch and an American cohort A-T compared control values. Additionally, correlations between disease phenotype (classic versus variant A-T) studied.ResultsIn total 40 (23 17...
<h3>Objective</h3> To describe and classify the neurologic trajectories in patients with mild forms of ataxia telangiectasia (A-T) from Dutch A-T cohort, combined reported literature. <h3>Methods</h3> Clinical, genetic, laboratory data 14 phenotypes cohort were analyzed corresponding A phenotype was defined by a later onset, nonataxia presenting or dominant feature, slower progression compared to classic phenotype. Neurologic classified based on age at follow-up data. <h3>Results</h3> One...
<title>Abstract</title> <bold>Background</bold> Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington’s disease (HD), patients’ preferences regarding these new therapies unclear. This study aims to what extent different characteristics affect patients with SCA HD regard interventions.<bold>Methods</bold> Manifest premanifest or were recruited online by platforms patient associations. The...
Abstract Background Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington’s disease (HD), patients’ preferences regarding these new therapies unclear. This study aims to get insight into what extent different characteristics affect patients with SCA HD regard interventions. Methods Manifest premanifest or were recruited online by platforms patient associations. The respondents conducted a...
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and characterized by neurodegeneration with early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk hypersensitivity ionizing radiation complicate clinical picture. Serum alpha-fetoprotein levels are patients A-T can therefore serve as a...