Petra Havránková
A5010285702- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Transcranial Magnetic Stimulation Studies
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Cardiac Arrest and Resuscitation
- Parkinson's Disease and Spinal Disorders
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
- Microtubule and mitosis dynamics
- Dementia and Cognitive Impairment Research
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Mechanical Circulatory Support Devices
- Metabolism and Genetic Disorders
- Neural and Behavioral Psychology Studies
- Functional Brain Connectivity Studies
- Restless Legs Syndrome Research
- Autoimmune Neurological Disorders and Treatments
Charles University
2016-2025
General University Hospital in Prague
2011-2025
<h3>Importance</h3> Out-of-hospital cardiac arrest (OHCA) has poor outcome. Whether intra-arrest transport, extracorporeal cardiopulmonary resuscitation (ECPR), and immediate invasive assessment treatment (invasive strategy) is beneficial in this setting remains uncertain. <h3>Objective</h3> To determine whether an early approach adults with refractory OHCA improves neurologically favorable survival. <h3>Design, Setting, Participants</h3> Single-center, randomized clinical trial Prague,...
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and motor abnormalities have a documented underlying monogenic defect, primarily due de novo variants. Still, the overall burden variants well novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The diagnostic yield was 49.8% (n =...
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
Abstract Background Randomized data evaluating the impact of extracorporeal cardiopulmonary resuscitation (ECPR) approach on long-term clinical outcomes in patients with refractory out-of-hospital cardiac arrest (OHCA) are lacking. The objective this follow-up study was to assess ECPR-based versus CCPR approach. Methods Prague OHCA trial a single-center, randomized, open-label trial. Patients witnessed presumed origin, without return spontaneous circulation, were randomized during ongoing...
Electrode implantation into the subthalamic nucleus for deep brain stimulation in Parkinson's disease (PD) is associated with a temporary motor improvement occurring prior to neurostimulation. We studied this phenomenon by functional magnetic resonance imaging (fMRI) when considering Unified Disease Rating Scale (UPDRS-III) and collateral oedema. Twelve patients PD (age 55.9± (SD)6.8 years, duration 9–15 years) underwent bilateral electrode nucleus. The fMRI was carried out after an...
ABSTRACT Background : Recently a novel syndrome of childhood‐onset generalized dystonia originating from mutations in lysine‐specific methyltransferase 2B ( KMT2B ) has been reported. Methods We sequenced the exomes 4 dystonia‐affected probands recruited Prague movement disorders center (Czech Republic). Bioinformatics analyses were conducted to select candidate causal variants described dystonia‐mutated genes. After cosegregation testing, checklists American College Medical Genetics and...
<b><i>Background/Aims:</i></b> The aim of the present study was to provide normative data and determine validity Czech version Mattis Dementia Rating Scale 2 (czDRS-2) in screening for mild cognitive impairment Parkinson's disease (PD-MCI) based on Movement Disorder Society (MDS) Level II criteria. <b><i>Methods:</i></b> For validation purposes, 41 healthy controls (HC), 46 patients with PD-NI (Parkinson's disease, no impairment) PD-MCI (all...
Abstract Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, synapse formation. We report eleven individuals from seven families harboring predicted pathogenic biallelic, de novo, heterozygous variants NAV3 gene, which encodes microtubule positive tip protein neuron navigator 3 (NAV3). All affected intellectual disability (ID),...
BackgroundDeep brain stimulation of the internal globus pallidus (GPi DBS) is an invasive therapeutic modality intended to retune abnormal central nervous system patterns and relieve patient dystonic or other motor symptoms.ObjectivesThe aim presented research was determine neuroanatomical signature GPi DBS modulation its association with clinical outcome.MethodsThis open-label fixed-order study cross-sectional validation against healthy controls analysed resting-state functional MRI...
The aim of the present study was to provide empirical evidence regarding classification accuracy International Parkinson and Movement Disorder Society (MDS) neuropsychological battery (NB) in determination Parkinson's disease mild cognitive impairment (PD-MCI).The cross-sectional included 106 PD patients subjected PD-MCI at Level I 120 healthy controls (HCs). All HC subjects were then assessed with MDS-NB II matched according age education using different thresholds (1.5 2.0 standard...
Abstract Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm dystonia, predicting diagnostic utility whole‐exome sequencing (WES) based on individual phenotypic aspects (age‐at‐onset, body distribution, presenting comorbidity). Methods prospectively enrolled set 209 dystonia‐affected families and obtained summary scores (0–5 points)...
Calcium/calmodulin-dependent protein kinases (CaMKs) are key mediators of calcium signaling and underpin neuronal health. Although widely studied, the contribution CaMKs to Mendelian disease is rather enigmatic. Here, we describe an unusual neurodevelopmental phenotype, characterized by milestone delay, intellectual disability, autism, ataxia, mixed hyperkinetic movement disorder including severe generalized dystonia, in a proband who remained etiologically undiagnosed despite exhaustive...
Multiple system atrophy (MSA) is a rare neurodegenerative disease that remains poorly understood, and the diagnosis of MSA continues to be challenging. We endeavored improve diagnostic process understanding in vivo characteristics by diffusion tensor imaging (DTI).Twenty subjects, ten parkinsonian dominant (MSA-P), cerebellar (MSA-C), 20 healthy volunteer subjects were recruited. Fractional anisotropy, mean diffusivity, radial axial diffusivity maps processed using tract-based spatial...