Jonathan De Winter
A5072438911- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Nuclear Structure and Function
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- Endoplasmic Reticulum Stress and Disease
- Protein Tyrosine Phosphatases
- Pelvic and Acetabular Injuries
- Mosquito-borne diseases and control
- Caveolin-1 and cellular processes
- Plant biochemistry and biosynthesis
- Genomics and Phylogenetic Studies
- Amyotrophic Lateral Sclerosis Research
- Maternal and fetal healthcare
- Muscle Physiology and Disorders
- Glycogen Storage Diseases and Myoclonus
- Lipid metabolism and biosynthesis
- Ubiquitin and proteasome pathways
- Inflammatory Myopathies and Dermatomyositis
- Genetic factors in colorectal cancer
- Vector-borne infectious diseases
- Lysosomal Storage Disorders Research
University of Antwerp
2021-2025
Antwerp University Hospital
2017-2025
Instituut voor Tropische Geneeskunde
2021
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity global developmental delays, sometimes complicated by episodes respiratory decompensation. Variants included bona fide...
Ataxia and cough are rare features in hereditary sensory autonomic neuropathies (HSAN), a group of diseases mostly unknown genetic cause. Biallelic repeat expansions RFC1 associated with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). This study aimed to investigate the prevalence cohort HSAN patients.After unremarkable whole-exome sequencing (WES) analysis, we performed repeat-primed PCR detect intronic 12 families, who all presented chronic cough.In these patients,...
Congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathies (HSAN) are clinically genetically heterogeneous disorders exclusively or predominantly affecting the neurons. Due rarity of diseases findings based mainly on single case reports small series, knowledge about these is limited. Here, we describe molecular workup a large international cohort CIP/HSAN patients including from normally under-represented countries. We identify 80 previously unreported pathogenic...
ABSTRACT Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. Objectives We investigated the role of rare neurological disorders such as ataxia spastic paraplegia. Methods screened 10,000 NGS datasets across two international consortia one local database, indicative level collaboration currently required identify genes causative for...
Abstract We report a family affected with childhood onset distal muscle weakness heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene. The was detected through exome-sequencing based copy number variant detection, segregates in four patients and is non-penetrant two other relatives. Electromyography, MRI biopsy revealed myopathic disease phenotype. Cellular consequences of were investigated using qPCR western blotting on patient-derived fibroblasts, which reduction RNA but not...
Abstract Background The cooccurrence of intermediate (40–49 CAG/CAA) TBP repeat expansions with STUB1 variants questions the pathogenicity monoallelic in cerebellar ataxia. Objective objective this study was to describe phenotypic spectrum heterozygous or without expansions. Methods We determined presence and six families Results Cooccurrence both genotypes one family resulted ataxia, involving cognitive extrapyramidal complications. Variable degrees ataxia impairment were found four...
Abstract We report 3 confirmed autochthonous tick-borne encephalitis cases in Belgium diagnosed during summer 2020. Clinicians should include this viral infection the differential diagnosis for patients with etiologically unexplained neurologic manifestations, even persons without recent travel history.
Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay is a rare neurodegenerative disease caused by biallelic variants in the SACS gene encoding for sacsin. More than 200 pathogenic have been identified to date, most which are missense. It likely that prevalence autosomal underestimated due lack an efficient diagnostic tool able validate uncertain significance. We previously shown sacsin almost absent fibroblasts patients with regardless type variant, because carrying missense...
ABSTRACT Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentations. Heterozygous SPTAN1 are exemplary for this diversity with phenotypes spanning almost the entire spectrum. Methods Through international collaboration we identified 14 families genetically unsolved distal weakness unreported heterozygous...