A5023364159- Sleep and Wakefulness Research
- Sleep and related disorders
- Restless Legs Syndrome Research
- Circadian rhythm and melatonin
- Obstructive Sleep Apnea Research
- Trace Elements in Health
- Epilepsy research and treatment
- Neuroscience of respiration and sleep
- Metabolism and Genetic Disorders
- Child Nutrition and Feeding Issues
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Regulation of Appetite and Obesity
- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- EEG and Brain-Computer Interfaces
- Ion Transport and Channel Regulation
- Hereditary Neurological Disorders
- Heavy Metal Exposure and Toxicity
- Heart Rate Variability and Autonomic Control
- Sleep and Work-Related Fatigue
- Dysphagia Assessment and Management
- Autism Spectrum Disorder Research
- Children's Physical and Motor Development
- Health and Lifestyle Studies
Charles University
2016-2025
General University Hospital in Prague
2004-2025
California Center for Sleep Disorders
2018
Sapienza University of Rome
2016
University Hospital Plzen
2000-2002
Kumamoto University
2001
Leiden University Medical Center
2001
Thomayer University Hospital
1997
Ottawa Hospital
1993
University of Ottawa
1981-1993
Narcolepsy, a neurological disorder affecting 1 in 2000 individuals, is associated with HLA-DQB1*0602 and low cerebrospinal fluid (CSF) hypocretin (orexin) levels.To delineate the spectrum of deficiency syndrome to establish CSF hypocretin-1 measurements as diagnostic tool for narcolepsy.Diagnosis, HLA-DQ, clinical data, multiple sleep latency test (MSLT), were studied case series patients disorders from 1999 2002. Signal detection analysis was used determine levels best predictive...
Abstract Hypocretins (orexins) are hypothalamic neuropeptides involved in sleep and energy homeostasis. Hypocretin mutations produce narcolepsy animal models. In humans, is rarely due to hypocretin mutations, but this system deficient the cerebrospinal fluid (CSF) brain of a small number patients. A recent study also indicates increased body mass index (BMI) narcolepsy. The sensitivity low CSF was examined 38 successive narcolepsy–cataplexy cases [36 human leukocyte antigen...
To examine the specificity of low CSF hypocretin-1 levels in narcolepsy and explore potential role hypocretins other neurologic disorders.A method to measure 100 microL crude sample was established validated. measured 42 patients (ages 16-70 years), 48 healthy controls 22-77 years,) 235 with various conditions 0-85 years).As previously reported, were undetectably (<100 pg/mL) 37 subjects. Hypocretin-1 detectable all (224-653 (117-720 pg/mL), exception three Guillain-Barré syndrome (GBS)....
Narcolepsy-cataplexy has long been thought to have an autoimmune origin. Although susceptibility narcolepsy, like many conditions, is largely genetically determined, environmental factors are involved based on the high discordance rate (~75%) of monozygotic twins. This study evaluated whether Streptococcus pyogenes and Helicobacter pylori infections triggers for narcolepsy. Retrospective, case-control. Sleep centers general hospitals. 200 patients with narcolepsy/hypocretin deficiency, a...
Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other inflammatory diseases 1,886 individuals hypocretin-deficient narcolepsy 10,421 controls, all European ancestry, using custom genotyping array (ImmunoChip). Three located outside Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly disease...
SUMMARY: A questionnaire survey has been made of the life effects narcolepsy in 180 patients, 60 each from North American, Asian and European populations, with similarly distributed age sex matched controls. Life-effects were attributed by patients to primary symptoms excessive daytime drowsiness, sleep attacks, cataplexy, vivid hypnagogic hallucinations paralysis, also other frequent such as visual problems (blurring, diplopia) memory impairment. Occupational prevalent (over 75%) included...
To compare clinical, electrophysiologic, and biologic data in narcolepsy without cataplexy with low (≤ 110 pg/ml), intermediate (110-200 normal (> 200 pg/ml) concentrations of cerebrospinal fluid (CSF) hypocretin-1.University-based sleep clinics laboratories.Narcolepsy (n = 171) control patients 170), all available CSF hypocretin-1.Retrospective comparison receiver operating characteristics curve analysis. Patients were also recontacted to evaluate if they developed by survival analysis.The...
Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years age. Affected individuals suffer from uncomfortable sensations and urge move lower limbs that occurs mainly resting situations during evening or at night. Moving walking leads improvement symptoms. Concomitantly, patients report sleep disturbances consequences such as reduced daytime functioning. We conducted genome-wide association study (GWA) for...
To examine whether cerebrospinal fluid (CSF) histamine contents are altered in human narcolepsy and these alterations specific to hypocretin deficiency, as defined by low CSF hypocretin-1.Patients meeting the ICSD-2 criteria for with without cataplexy who had hypocretin-1 results available were selected from Stanford Narcolepsy Database on basis of availability adequate age sex matching across 3 groups: (n=34, 100% cataplexy), (n=24, 75% normal controls (n=23). Low was < or =110 pg/mL (1/3...
Mutations in the gene ATP1A3 have recently been identified to be prevalent patients with alternating hemiplegia of childhood (AHC2). Based on a large series AHC, we set out identify spectrum different mutations within and further establish any correlation phenotype. Clinical data from an international cohort 155 AHC (84 females, 71 males; between 3 months 52 years) were gathered using specifically formulated questionnaire analysed relative mutational for each patient. In total, 34 detected...
Abstract Background and aims: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although long‐term survival has yet to well documented. The aim this study was describe a cohort patients with WD assess those factors affecting phenotypic manifestation WD. Methods: presence mutations ATP7B gene, clinical manifestations, treatments outcomes were analysed retrospectively in 117 (59 men 58 women, aged at evaluation 38.5 ± 11, range 16–63...
Alternating hemiplegia of childhood is a neurological disorder characterized by episodes hemiplegia, various non-epileptic paroxysmal events and global impairment. Characterization the evolution outcome into adulthood has not been sufficiently investigated. The goal this study was to elucidate natural history alternating within large cohort 157 patients, as part European Network for Research on Hemiplegia project. A questionnaire formulated determine severity both impairment address...
Recent studies have found increased autoantibodies against Tribbles homolog 2 (anti-TRIB2) and anti-streptolysin O (ASO) in narcolepsy. In this study, we replicated finding with a primary focus on recent onset cases.Participants included (1) 90 cases cataplexy, (2) 57 without (3) 156 age-sex matched controls, including 73 human leukocyte antigen (HLA)-DQB1*0602 allele carriers. A radioligand binding assay was used to detect anti-TRIB2 antibodies.Anti-TRIB2 antibodies were prevalent...
To examine repeatability of Multiple Sleep Latency Test (MSLT) results in narcolepsy type 1 (NT1) and 2 (NT2) according to the criteria International Classification Disorders, Third Edition (ICSD-3).Repeatability MSLT was retrospectively evaluated NT1 (n = 60) NT2 54) cases, controls 15). All subjects had documented HLA-DQB1*06:02 status and/or hypocretin-1 levels from cerebrospinal fluid. undergone MSLTs (≥ meeting ICSD-3 for narcolepsy). Repeatability explored children versus adults those...
The clinical and polygraphic characteristics of narcolepsy in children were established on the analysis 97 reported cases (including 12 personal cases). In idiopathic narcolepsies (77 cases) narcoleptic attacks occurred 97% cases, cataplexy 80.5%, hypnagogic hallucination 39% sleep paralysis 29%; 13% had tetrad; dyssomnia was a prominent feature. Polygraphic data showed no significant differences between adults children. symptomatic (20 cases): feature occurring 95% 26% status cataplecticus;...
Spectral analysis of heart rate variability (HRV) during overnight polygraphic recording was performed in 11 healthy subjects. The total spectrum power, power the VLF, LF and HF spectral bands mean R-R were evaluated. Compared to Stage 2 4 non-REM sleep, significantly higher REM sleep its value gradually increased course each cycle. VLF component (reflects slow regulatory mechanisms, e.g. renin-angiotensin system, thermoregulation) than sleep. (linked sympathetic modulation) On contrary, a...