Plasma Metabolic Disturbances in Parkinson's Disease Patients.

Plasma from patients with Parkinson's disease (PD) is a valuable source of information indicating altered metabolites associated with the risk or progression of the disease. Neurotoxicity of dopaminergic neurons, which is triggered by aggregation of α-synuclein, is the main pathogenic feature of PD. However, a growing body of scientific reports indicates that metabolic changes may precede and directly contribute to neurodegeneration.

Unusual magnetic resonance imaging of the head in manganese and ephedrone intoxication - a case report.

Unlabelled: Manganese intoxication leads to the accumulation of manganese in the brain, mostly in the globus pallidus, which clinically manifests as a L-DOPA - resistant parkinsonian syndrome with specific symptoms, such as spastic-hypokinetic dysarthria and postural instability. A new kind of manganese poisoning associated with drug abuse has been reported in Eastern European countries.

A Case Report: We present an adult patient with neurological abnormalities secondary to manganese intoxication related to the abuse of psychoactive substances.

Diagnostic and therapeutic difficulties in patient with cerebral venous thrombosis - a case report.

Unlabelled: Cerebral venous infarction also known as cerebral venous thrombosis (CVT) is a rare disease. It is more common in young adults, but three times more common in women than in men. The clinical picture of CVT may vary and non-specific manifestations often delay correct diagnosis.

LC-MS/MS Determination of Modified Nucleosides in The Urine of Parkinson's Disease and Parkinsonian Syndromes Patients.

Epigenetic modifications play a key role in gene regulation and expression and are involved in numerous cellular processes. Due to the limited research on nucleosides in Parkinson's disease (PD), it is very important to consider epigenetic factors and their role in the development of PD. The aim of this study was to investigate and compare the levels of modified nucleosides, such as -methylguanosine, -methyl-2'-deoxyadenosine, 1-methyladenosine, 1-methylguanine, 7-methylguanine, 3-methyladenine and 7-methylguanosine in the urine of Parkinson's disease (PD) patients and the control group, and to verify that the results obtained differ in a subgroup of patients with parkinsonian syndromes.

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Objective: To perform a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in adult-onset Krabbe disease.

Methods: We retrospectively collected basic clinical data and the first available brain MRI from patients with confirmed Krabbe disease with first clinical manifestations beyond 10 years of age. Data were obtained from our reference center for lysosomal diseases (n = 6) and from contacted authors of published articles describing patients with adult-onset Krabbe disease (n = 15).

66034T/C polymorphism of the human pregnane X receptor (hPXR) as potential risk factor for drug resistance in epilepsy - Preliminary study.

Introduction And Objectives: Recent research has suggested that genetic factors may play an important role in the development of drug resistance in epilepsy. It is not clear which gene loci are responsible for the drug-resistant phenotype. Studying certain nuclear receptors may be helpful in predicting drug response, as they regulate drug transporting proteins and enzymes involved in their metabolism.

The impact of multiple sclerosis relapse treatment on migration of effector T cells--Preliminary study.

Unlabelled: Migration of inflammatory cells from the blood to the central nervous system (CNS) is crucial for development of multiple sclerosis (MS). Inhibition of this process would allow to control disease activity. The first step confirming this approach would be the analysis of the impact of effective MS relapse therapy on migration of effector T cells.

Hemorrhagic stroke, cerebral amyloid angiopathy, Down syndrome and the Boston criteria.

A stroke, or a cerebrovascular accident (CVA) is a life-threatening condition which often results in permanent or significant disability in the adult population. Several classifications of CVAs exist, one of them being based on the mechanism of injury of brain tissue: ischemic (85-90%) and hemorrhagic (10-15%). In a hemorrhagic stroke an intercranial bleeding occurs, leading to the formation of a focal hematoma typically located in the basal ganglia of the brain (approx.

Selected extracellular microRNA as potential biomarkers of multiple sclerosis activity--preliminary study.

Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS). Four distinct disease courses are known, although approximately 90% of patients are diagnosed with the relapsing-remitting form (RRMS). The name "multiple sclerosis" pertains to the underlying pathology: the presence of demyelinating plaques in the CNS, in particular in the periventricular region, corpus callosum, cervical spine, and the cerebellum.

[Spinal cord diffusion tensor tractography as a diagnostic tool in difficult cases of spinal cord intramedullary tumours].

Diffusion tensor-based spinal cord tractography is a technically complicated but rapidly evolving diagnostic method. The difficulties result from the volume of the spinal cord, the constant pulsing of the cerebrospinal fluid and respiratory movements. The method is being used more and more frequently to examine long spinal tracts in patients with intramedullary tumours.