GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.

Introduction: Parkinson's disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of cases show a clear Mendelian inheritance pattern, it is much more relevant to identify patients who present with a complex genetic profile of risk variants with different severity. The ß-glucocerebrosidase coding gene (GBA1) is recognized as the most frequent genetic risk factor for PD and Lewy body dementia, irrespective of reduction of the enzyme activity due to genetic variants.

Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.

Chymotrypsin C (CTRC) is a digestive serine protease produced by the pancreas that regulates intrapancreatic trypsin activity and provides a defensive mechanism against chronic pancreatitis (CP). CTRC exerts its protective effect by promoting degradation of trypsinogen, the precursor to trypsin. Loss-of-function missense and microdeletion variants of CTRC are found in around 4% of CP cases and increase disease risk by approximately 3-7-fold.

Two-Year observational study of autonomic skin function in patients with Parkinson's disease compared to healthy individuals.

Background And Purpose: We characterized autonomic pilomotor and sudomotor skin function in early Parkinson's disease (PD) longitudinally.

Methods: We enrolled PD patients (Hoehn and Yahr 1-2) and healthy controls from movement disorder centers in Germany, Hungary, and the United States. We evaluated axon-reflex responses in adrenergic sympathetic pilomotor nerves and in cholinergic sudomotor nerves and assessed sympathetic skin response (SSR), predominantly parasympathetic neurocardiac function via heart rate variability, and disease-related symptoms at baseline, after 2 weeks, and after 1 and 2 years.

Intercountry comparisons of advanced Parkinson's disease symptoms and management: Analysis from the OBSERVE-PD observational study.

Objectives: In the absence of widely accepted criteria, determining when a patient with Parkinson's disease (PD) may benefit from more advanced treatments such as device-aided therapy (DAT) so far remains a matter of physician judgment. This analysis investigates how classification of PD varies across countries relative to measures of disease severity.

Materials And Methods: The OBSERVational, cross-sEctional PD (OBSERVE-PD) study included consecutive patients with PD at centers that offer DATs in 18 countries.

Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.

The digestive protease chymotrypsin C (CTRC) protects the pancreas against pancreatitis by degrading potentially harmful trypsinogen. Loss-of-function genetic variants in CTRC increase risk for chronic pancreatitis (CP) with variable effect size, as judged by the reported odds ratio (OR) values. Here, we performed a meta-analysis of published studies on four variants that alter the CTRC amino-acid sequence, are clinically relatively common (global carrier frequency in CP >1%), reproducibly showed association with CP and their loss of function phenotype was verified experimentally.

Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort.

The calcium-sensing receptor (CASR) is expressed in the pancreas where it might regulate calcium concentrations in pancreatic secretions. Two independent studies reported conflicting results claiming that commonly occurring missense variants of the CASR gene are risk factors for chronic pancreatitis (CP). Here, we attempted to replicate the association between CASR variants and CP.

[Advanced Parkinson's disease characteristics in clinical practice: Results from the OBSERVE-PD study and sub-analysis of the Hungarian data].

Background And Purpose: The majority of patients with advanced Parkinson's disease are treated at specialized movement disorder centers. Currently, there is no clear consensus on how to define the stages of Parkinson's disease; the proportion of Parkinson's patients with advanced Parkinson's disease, the referral process, and the clinical features used to characterize advanced Parkinson's disease are not well delineated. The primary objective of this observational study was to evaluate the proportion of Parkinson's patients identified as advanced patients according to physician's judgment in all participating movement disorder centers across the study.

Helicobacter pylori heteroresistance to clarithromycin in adults-New data by in situ detection and improved concept.

Background: Clarithromycin (Cla) heteroresistance of Helicobacter pylori (H pylori) infections is commonly assessed by comparing the resistance status of antrum and corpus biopsy samples and by demonstrating the discrepancy between them (interniche heteroresistance). However, fluorescence in situ hybridization (FISH) technique is capable of showing the synchronous presence of susceptible and resistant bacteria (intraniche heteroresistance), enabling the detection of heteroresistant H pylori populations within one biopsy sample.

Materials And Methods: Antrum and corpus biopsy specimens of 305 H pylori-infected patients were investigated with an rRNA-targeted Cla-resistance FISH test.

Linking Individual Patient Data to Estimate Incidence and Prevalence of Parkinson's Disease by Comparing Reports of Neurological Services and Pharmacy Prescription Refills at a Nationwide Level.

We set forth to estimate the number of those with Parkinson's disease (PD) in Hungary, a country with a single-payer health insurance system covering 10 million inhabitants. We analyzed all hospital and outpatient reports from neurological services and pharmacy reports of prescription refills. We cross-checked clinically administered diagnosis of PD with prescription refills of antiparkinsonian medications using record linkage.

Characterizing advanced Parkinson's disease: OBSERVE-PD observational study results of 2615 patients.

Background: There are currently no standard diagnostic criteria for characterizing advanced Parkinson's disease (APD) in clinical practice, a critical component in determining ongoing clinical care and therapeutic strategies, including transitioning to device-aided treatment. The goal of this analysis was to determine the proportion of APD vs. non-advanced PD (non-APD) patients attending specialist PD clinics and to demonstrate the clinical burden of APD.

The rs13388259 Intergenic Polymorphism in the Genomic Context of the Gene Is Associated with Parkinson's Disease in the Hungarian Population.

Parkinson's disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been implicated in PD pathogenesis, including both Mendelian genes with rare mutations and low-penetrance genes with common polymorphisms. Previous studies of low-penetrance genes focused on protein-coding genes, and less attention was given to long noncoding RNAs (lncRNAs).

Cutaneous Autonomic Pilomotor Testing to Unveil the Role of Neuropathy Progression in Early Parkinson's Disease (CAPTURE PD): Protocol for a Multicenter Study.

Background: In Parkinson's disease (PD), alpha-synuclein accumulation in cutaneous autonomic pilomotor and sudomotor nerve fibers has been linked to autonomic nervous system disturbances even in the early stages of the disease. This study aims to assess the association between alpha-synuclein-mediated structural autonomic nerve fiber damage and function in PD, elucidate the role of neuropathy progression during the early disease stages, and test reproducibility and external validity of pilomotor function assessment using quantitative pilomotor axon-reflex test and sudomotor function quantitative direct and indirect test of sudomotor function.

Methods/design: A prospective controlled study will be conducted at four study sites in Europe and the USA.

Neuropsychiatric symptoms in untreated Parkinson's disease.

Neuropsychiatric and cognitive symptoms are common in Parkinson's disease (PD) and may precede and exceed motor symptoms as major factors impacting disease course and quality of life. Neuropsychiatric symptoms (NPS) in PD are various and are attributed to pathologic changes within multiple brain regions, to psychological stress, and to adverse effects of dopamine replacement therapy. Sleep disorders and mood symptoms such as apathy, depression, and anxiety may antedate the development of motor symptoms by years, while other NPS such as impulse control disorders, psychosis, and cognitive impairment are more common in later stages of the disease.

Levodopa/carbidopa intestinal gel can improve both motor and non-motor experiences of daily living in Parkinson's disease: An open-label study.

Background: Levodopa/carbidopa intestinal gel therapy (LCIG) can efficiently improve several motor and non-motor symptoms of advanced Parkinson's disease (PD). The recently developed Movement Disorder Society-sponsored Unified Parkinson's Disease Rating Scale (MDS-UPDRS) improved the original UPDRS making it a more robust tool to evaluate therapeutic changes. However, previous studies have not used the MDS-UPDRS and the Unified Dyskinesia Rating Scale (UDysRS) to assess the efficacy of LCIG.

[Recommendation for treatment options in advanced Parkinson's disease].

The treatment of advanced Parkinson's disease is challenging for both physicians and caregivers. The device-aided therapies need expertise and dedicated hospital centers. In this summary we have concluded the available data and recommendation for the treatment options in advanced Parkinson's disease and adopt them to the daily care in Hungary.

Dopamine improves exploration after expectancy violations and induces psychotic-like experiences in patients with Parkinson's disease.

Dopamine neurons are sensitive to novel and rewarding events, and dopamine signals can modulate learning in higher-level brain networks. Additionally, dopamine abnormalities appear to be central to the pathophysiology of schizophrenia spectrum disorders. In this study, we investigate the dopaminergic modulation of schizotypal traits and exploration after expectancy violations in Parkinson's disease (PD) patients on dopamine replacement therapy.

[Application of levodopa/carbidopa intestinal gel in advanced Parkinson's disease].

Parkinson's disease is the second most common neurodegenerative disorder around the world. Levodopa has remained the "gold standard" of the therapy even several decades after its introduction. Chronic levodopa treatment is associated with the development of motor complications in most patients.

[VALIDATION OF THE HUNGARIAN UNIFIED DYSKINESIA RATING SCALE].

Background: The Unified Dyskinesia Rating Scale (UDysRS) was published in 2008. It was designed to be simultaneous valid, reliable and sensitive to therapeutic changes. The Movement Disorder Society organizing team developed guidelines for the development of official non-English translations consisting of four steps: translation/back-translation, cognitive pretesting, large field testing, and clinimetric analysis.

[Experience with levodopa/carbidopa intestinal gel in the treatment of advanced Parkinson's disease in Hungary].

In the advanced Parkison's disease (PD) the late complications of levodopa therapy have to be considered: motor and/or non-motor fluctuations with or without disturbing dyskinesias. The non-motor fluctuations often influence the quality of life (QoL) in a much more negative way compared with the motor symptoms. In the treatment of advanced PD there are several device-aided methods - deep brain stimulation, apomorphine pump, levodopa/carbidopa intestinal gel (LCIG) - to improve the symptoms, the QoL, sometimes even in an individual, tailored custom form.

Is the MDS-UPDRS a Good Screening Tool for Detecting Sleep Problems and Daytime Sleepiness in Parkinson's Disease?

Movement Disorder Society-sponsored Unified Parkinson's Disease Rating Scale (MDS-UPDRS) has separate items for measuring sleep problems (item 1.7) and daytime sleepiness (1.8).

Quality of life and costs in Parkinson's disease: a cross sectional study in Hungary.

Background: Patient reported outcomes and costs of illness are useful to capture some of the multiple effects of a disease and its treatments. Our aim was to assess quality of life (QoL) and costs of Parkinson's disease (PD) in Hungary, and to analyze their associations.

Methods: A cross-sectional questionnaire survey was conducted in one neurology university clinic.

[Treatment possibilities in advanced Parkinson's disease].

In the course of Parkinson's disease, advanced and late stages can be distinguished. In the advanced stage, levodopa has good effect on motor symptoms, but patient care is often hindered by levodopa-induced complications such as motor fluctuation and dyskinesias. In the late stage levodopa response becomes poor, falls, dementia and psychotic symptoms appear and patients often need hospitalization.

[Efficacy of deep brain stimulation in our patients with Parkinson's disease].

Background And Purposes: In advanced Parkinson's disease, medically refractory motor fluctuation or medically resistant tremor considerably affects quality of life. However, these symptoms can be mostly successfully treated by deep brain stimulation. We analyzed the efficacy of bilateral subthalamic stimulation in our patients with Parkinson's disease.

Prothrombotic polymorphisms in patients with Raynaud's phenomenon and migraine.

We have investigated the prevalence and possible association of inherited prothrombotic risk factors in patients with primary Raynaud's phenomenon (PRP) and migraine. We performed genotypic analysis of FVLeiden, prothrombin G20210A, methyltetrahydrofolate reductase C677T and FXIII-A V34L mutations in these patients. Two hundred patients with primary Raynaud's phenomenon of Hungarian origin with migraine (57 female, one male, mean age of 43.