Janina Gburek‐Augustat
A5051449137- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Autism Spectrum Disorder Research
- Amino Acid Enzymes and Metabolism
- Traumatic Brain Injury and Neurovascular Disturbances
- Cytomegalovirus and herpesvirus research
- Multiple Sclerosis Research Studies
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Cerebrospinal fluid and hydrocephalus
- Neurological Complications and Syndromes
- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- Family and Disability Support Research
- Pharmacological Effects and Toxicity Studies
- Infant Development and Preterm Care
- Moyamoya disease diagnosis and treatment
- Ocular Diseases and Behçet’s Syndrome
- Autoimmune and Inflammatory Disorders Research
- Epigenetics and DNA Methylation
University Hospital Leipzig
2019-2025
Leipzig University
2024
Klinik und Poliklinik für Kinder- und Jugendmedizin
2021-2024
Boston Children's Hospital
2024
Heidelberg University
2023
University Hospital Heidelberg
2023
John Wiley & Sons (United States)
2023
Hudson Institute
2023
Liechtenstein Institute
2023
Cognitive Neuroimaging Lab
2023
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly a negative evaluation, remains poorly defined.
Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause recessive early-onset around the world. Here we aimed enlarge spectrum SACS mutations outside Quebec, establish pathogenicity novel variants, and expand clinical imaging phenotype.Sequencing 22 patients with unexplained ataxia, assessment variants 3.500 European control chromosomes extensive phenotypic investigations all carriers.We 11 index harbouring 17...
<h3>Background</h3> Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterised by abnormal central nervous system white matter. Mutations in <i>POLR3A</i> and <i>POLR3B</i> genes were recently reported to cause four clinically overlapping hypomyelinating leukodystrophy phenotypes. Our aim was investigate the presence frequency mutations patients with genetically unexplained leukodystrophies typical clinical and/or radiologic features Pol III-related...
We retrospectively evaluated predictors of conversion to multiple sclerosis (MS) in 357 children with isolated optic neuritis (ON) as a first demyelinating event who had median follow-up 4.0 years. Multiple Cox proportional-hazards regressions revealed abnormal cranial magnet resonance imaging (cMRI; hazard ratio [HR] = 5.94, 95% confidence interval [CI] 3.39-10.39, p < 0.001), presence cerebrospinal fluid immunoglobulin G oligoclonal bands (OCB; HR 3.69, CI 2.32-5.86, and age (HR 1.08 per...
The Scale for the Assessment and Rating of Ataxia (SARA) is most widely applied clinical outcome assessment (COA) genetic ataxias, but presents metrological regulatory challenges. To facilitate trial planning, we characterize its responsiveness (including subitem-level relations to ataxia severity patient-focused outcomes) across a large number provide first natural history data several them.Subitem-level correlation distribution-based analysis 1,637 SARA assessments in 884 patients with...
Mutations in the gene STUB1, encoding protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause recessive ataxia based on findings few Chinese families. Here we aimed to investigate phenotypic and genotypic spectrum STUB1 mutations, assess their frequency different Caucasian disease cohorts. 300 subjects with degenerative (n = 167) or spastic paraplegia 133) were screened for variants by whole-exome-sequencing 204) shotgun-fragment-library-sequencing...
Abstract Introduction The management of open neural tube defects (ONTD) has significantly improved with fetal surgery, but many children remain ineligible for therapy. This study assesses the impact intraoperative neurophysiological monitoring (IONM) during postnatal myelomeningocele (MMC) repair and its potential to optimize functional outcomes. Patients methods Seven newborns thoracolumbar or lumbar MMC underwent surgical using IONM. Neuromonitoring included motor-evoked potentials (MEP),...
Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, POLR3K. The endocrine growth abnormalities associated with this have not been thoroughly investigated to date. Objective To systematically characterize of patients leukodystrophy. Design An international cross-sectional study was performed on 150...
Even though it is already known that parents of children with developmental delays or disabilities experience higher parenting stress than families typically developing children, the contributing factors need to be analyzed in more detail. The aim this cross-sectional study was examine influence demographic characteristics on from caring for a disabled child and identify possible protective additional stressful social factors. A total 611 mothers fathers delays, chronic diseases, completed...
Abstract Background Parents of children with developmental disorders (DD) or disabilities report greater parenting stress than parents typically developing children. To minimise this stress, stressful factors need to be known and needs recognised early. The present cross‐sectional study aims systematically assess compare in families various types disabilities. In addition, the assessment by attending paediatricians will evaluated. Methods We surveyed 611 about their at Children's Development...
CSF protein levels are altered in neurological disorders, such as hydrocephalus of different etiologies. In this retrospective observational study, we analyzed cerebrospinal fluid (CSF) samples hydrocephalic diseases aqueductal stenosis (AQS, n = 27), normal pressure (NPH, 24), communicans (commHC, 25) and idiopathic intracranial hypertension (IIH)/pseudotumor cerebri (PC, 7) comparison with patients without configuration (control, 95). was obtained through diversion procedures lumbar...
Pathogenic variants in
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, most abundant components eukaryotic cell membranes. In recent years, these have moved into clinical focus because four ten genes involved been associated with a range autosomal recessive rare diseases such as neurodevelopmental disorder muscular dystrophy (CHKB), bone abnormalities cone-rod (PCYT1A) spastic paraplegia (PCYT2, SELENOI). We identified six individuals from five families...
Abstract Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic analyses this rare lysosomal storage disease are lacking the infantile and juvenile forms. Methods Thirty-two scans from 19 patients with NPC were assessed using a newly established validated scoring system which addresses white matter changes supratentorial versus infratentorial atrophy. Results Seven six early (<2 years age), three late (2–6 years), four (6–15 13 adult...
Abstract Moyamoya disease (MMD) is characterized by bilateral, chronic progressive stenosis at the terminal portions of internal carotid arteries and their proximal branches. The “smoke-like” appearance arterial collaterals in angiography gives its name. “ivy-sign” less-known magnetic resonance imaging (MRI) pattern this disease. leptomeningeal present as diffuse signal enhancement brain surface contrast-enhanced T1-weighted image fluid-attenuated inversion recovery sequences “as if...
<h3>BACKGROUND AND PURPOSE:</h3> Despite its rarity in Western countries, kernicterus resulting from severe neonatal hyperbilirubinemia and associated neurologic consequences still persists. Subtle MR imaging patterns may be overlooked, leading to diagnostic prognostic uncertainties. The study systematically analyzes pattern over time. <h3>MATERIALS METHODS:</h3> A retrospective was conducted Departments of Pediatric Neurology at the University Children9s Hospitals Leipzig, Germany, or...