Publications by authors named "Snezana Skobalj"
Article Synopsis
- Hereditary transthyretin-related amyloidosis (hATTR amyloidosis) is a genetic disease caused by mutations in the transthyretin gene, impacting patients in diverse ways; this study examines the demographics, clinical features, and genetic variants of suspected hATTR cases among 3,167 participants.
- The research identified five key clinical phenotypes linked to 22 symptoms, with a focus on polyneuropathy and cardiomyopathy; it also determined gender differences in symptom presentation.
- Of the participants, 92 were diagnosed with hATTR (3%) having 17 unique genetic variants, predominantly the p.Val50Met variant; in contrast, 503 participants had wild-type
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: Genetic stratification of Parkinson's disease (PD) patients facilitates gene-tailored research studies and clinical trials. The objective of this study was to describe the design of and the initial data from the Rostock International Parkinson's Disease (ROPAD) study, an epidemiological observational study aiming to genetically characterize ~10,000 participants.
Methods: Recruitment criteria included (1) clinical diagnosis of PD, (2) relative of participant with a reportable LRRK2 variant, or (3) North African Berber or Ashkenazi Jew.