A5103003995- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Autism Spectrum Disorder Research
- Genetic Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Long-Term Effects of COVID-19
- COVID-19 and Mental Health
- Neurological diseases and metabolism
- Nuclear Receptors and Signaling
- Cardiac pacing and defibrillation studies
- Amyotrophic Lateral Sclerosis Research
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
- Cellular transport and secretion
- GDF15 and Related Biomarkers
- COVID-19 Clinical Research Studies
- Tryptophan and brain disorders
- Ginkgo biloba and Cashew Applications
- Health disparities and outcomes
- Vitamin D Research Studies
- Lysosomal Storage Disorders Research
- Histone Deacetylase Inhibitors Research
University of Rijeka
2021-2024
Klinički Bolnički Centar Rijeka
2021
Many of the potential immune therapeutic targets are similarly affected in adult-onset neurodegenerative diseases such as Alzheimer’s (AD) disease, Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), but also a seemingly distinct Niemann-Pick type C with primarily juvenile-onset. This strongly argues for an overlap pathogenic mechanisms. The commonly researched include various cell subsets microglia, peripheral macrophages, or regulatory T cells...
Introduction: Deep Brain Stimulation (DBS) of the subthalamic nucleus (STN) is a well-established treatment for advanced Parkinson’s disease (PD), offering significant symptomatic relief. Although DBS generally considered safe, it carries risks, including potential delayed complications such as intracerebral hemorrhage (ICH). Case Presentation: We present rare case 67-year-old male with PD who developed ICH after undergoing bilateral STN DBS. Initially, patient showed no neurological...
Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of testing PD in a routine clinical setting on multicenter cohort 149 early-onset familial patients by exome sequencing semi-quantitative multiplex ligation-dependent probe amplification evidence-based PD-associated gene panel. show that should be considered both alike, about 10% Caucasian population can expected.
Our aim was to determine the frequency and characteristics of neurological post-COVID-19 syndrome diagnostic therapeutic measures that were used for treatment these patients. Data collected 243 patients examined during period 11 May 2021 22 June 2022. The inclusion criteria COVID-19 illness symptoms associated with COVID-19. exclusion non-neurological symptoms, who did not suffer from COVID-19, occurred after vaccination against SARS-CoV-2 virus. 227 analyzed. Most presented multiple most...
Dystonia is the third most common pediatric movement disorder and often difficult to treat. Deep brain stimulation (DBS) of internal pallidum (GPi) has been demonstrated as a safe effective treatment for genetic dystonia in adolescents adults. The results DBS children are limited individual cases or case series, although it proven be an procedure carefully selected cohorts. aim our study was present outcome 7- 9-year-old patients with disabling monogenic isolated generalized DYT-THAP1...
AimTo assess the effect of social isolation due to coronavirus disease 2019 (COVID-19) pandemic on physical and mental health Parkinson's patients treated at University Hospital Center Rijeka.MethodsThis cross-sectional telephone study involved who had least one control examination Rijeka in 2020 were Croatian citizens. A questionnaire was used obtain data socio-demographic characteristics severity motor, anxiety, depression, non-motor symptoms.ResultsThe final sample included 87 patients....
Gaucher's disease type 1 (GD1) is an autosomal recessive caused by mutations in the glucocerebrosidase (GBA) gene.1 Both homozygote and heterozygote mutation carriers GBA gene have increased risk of developing Parkinson's (PD).2 Around 4% patients with GD1 fulfill diagnostic criteria for PD, nearly 21% develop some form parkinsonian symptoms during course.1 The neurological manifestations often progress rapidly, depending on age onset showing a tendency to reach advanced stage early. Enzyme...
Parkinson’s disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities. It likely both genetic environmental factors, along with age, contribute to the cause. However, there no comprehensive guideline for testing disease, more research needed understand variations in different populations. There has been on background of Croatia so far. Therefore, GiOPARK project, we aimed investigate variants responsible 153 Croatian patients early onset,...
Parkinson’s disease is a neurological disorder characterized by rigidity, bradykinesia and tremor. Several genetic environmental causes of are known, there emerging evidence the possible contribution gut microbiome to onset, severity, response therapy. While previous research has shown several differences in patients under therapy, few prospective studies have included drug naïve patients. In order evaluate composition prior therapy initiation, we collected performed 16S rRNA gene sequencing...
In this perspective article, we highlight the possible applicability of genetic testing in Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory technique employing electrical stimulation, has historically targeted motor symptoms advanced PD dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants DBS efficacy. Known genes such GBA, SNCA, LRRK2, PRKN are most studied, even though further...
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions, leading to abnormal involuntary movements postures.Although the pathogenesis of dystonia not entirely understood, lack intracortical inhibition, aberrant sensory integration and derangement neural plasticity are known contribute.Etiologically, can be idiopathic, acquired hereditary, most commonly occurring with TOR1A, THAP1, GCH1, KMT2B mutations.e classi cation based on two main axes: clinical...
Vitamin D nužan je nutrijent potreban za homeostazu kalcija i zdravlje koštanog sustava, no sve se češće potvrđuje njegova uloga u neurološkim bolestima. U središnjem živčanom sustavu prisutni su svi čimbenici metabolizma vitamina te djelovanje moguće parakrinim autokrinim putem. utječe na razine neurotrofnih čimbenika, regulaciju imunološke funkcije središnjeg živčanog sustava. Manjak nadoknada predmet istraživanja većine neurodegenerativnih bolesti manjak povezan s povećanim rizikom...