Publications by authors named "J O Aasly"
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.
Article Synopsis
- * A study involving 6,766 PD patients over several years examined how genetic factors influence motor progression and mortality, revealing the APOE ε4 allele as significantly impacting mortality rates.
- * Four new genetic loci were identified, linked to motor progression, suggesting potential targets for future treatment strategies in PD, although further investigation is necessary to understand their biological implications.
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.
View Article and Find Full Text PDFBackground: The severity, progression, and outcomes of motor and non-motor symptoms in Parkinson's disease (PD) are quite variable. Following PD cohorts holds promise for identifying predictors of disease severity and progression.
Methods: PD patients ( = 871) were enrolled at five sites.
Background: GBA1 variants are the strongest genetic risk factor for Parkinson's disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widely across populations.
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