Publications by authors named "Natascha Bahr"
Article Synopsis
- Knowledge of the genetic factors contributing to Parkinson's disease has significantly expanded, starting from the identification of the first mutation in α-synuclein to discovering various other related genes.
- Genetic research helps understand the diverse symptoms of Parkinson's disease and promotes the search for new biomarkers and treatment options, with several clinical trials in progress.
- Efforts to include previously under-represented populations in genetic studies are fostering collaboration and promising new insights, although challenges persist, offering opportunities for a more comprehensive understanding of the disease worldwide.
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.
Objective: To identify the multi-ancestry spectrum of monogenic PD.
Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J.
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes.
View Article and Find Full Text PDFArticle Synopsis
- - Episodic ataxias (EA) are mostly inherited conditions that involve repeated episodes of ataxia and other movement-related symptoms, often linked to mutations in certain genes like CACNA1A and KCNA1.
- - A systematic review of existing literature examined clinical and genetic data from 717 patients with pathogenic variants to understand genotype-phenotype correlations, revealing significant variability in symptoms.
- - The study suggests that due to this variability, comprehensive genetic testing (like panel, whole exome, or genome sequencing) is recommended for more accurate diagnosis and management of EA.