Publications by authors named "I Schlesinger"
Article Synopsis
- - Smith-Magenis Syndrome (SMS) is a rare genetic disorder linked to intellectual disability, behavioral issues, and sleep problems, caused by a deletion in the chromosome band 17p11.2 affecting the RAI1 gene.
- - RAI1 plays a role in neurodevelopment and may be connected to Parkinson's disease (PD), which is characterized by motor symptoms like tremors and bradykinesia.
- - A case study of a patient with both SMS and early-onset PD raises questions about the relationship between RAI1 gene variations and PD, highlighting the need for more research and attention from caregivers regarding potential PD symptoms in SMS patients.
Article Synopsis
- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
Background: Magnetic resonance imaging (MRI)-guided focused ultrasound (FUS) VIM-thalamotomy has established efficacy and safety in tremor relief in patients with essential tremor and Parkinson's disease. The efficacy and safety in patients with atypical parkinsonism have not been reported.
Objective: To report on the efficacy and safety of FUS VIM-thalamotomy in 8 patients with parkinsonism, multiple system atrophy-Parkinsonian type (MSA-P) ( = 5), and dementia with Lewy bodies (DLB) ( = 3).
Background: Current evidence on chronic conditions favors promotion of health behaviors as a mean to positively impact health outcomes. In Parkinson's disease, performing health behaviors is indicated as a means to fight the long-lasting burden of the disease. Understanding actual engagement in health behaviors and patient activation and their association to function and health-related quality of life is therefore important.
View Article and Find Full Text PDFObjective: To test associations between socio-clinical factors, self-management and patient activation among patients with Parkinson's disease (PD), and to explore the use of regression tree to find the cut-off levels of socio-clinical factors which associate with lower or higher self-management behaviours and patient's activation.
Methods: A cross-sectional study of patients with PD ( = 62) who underwent assessment of their socio-clinical factors including age, gender, cognitive status, comorbidities, disease severity (motor and non-motor symptoms) and social support. The associations of these factors to specific aspects of self-management behaviours including utilization of rehabilitative treatments, physical activity and patient activation were tested.