Molecular Mechanisms Underlying Genetic Variants of Parkinson’s Disease

Dear Colleagues,

Over recent decades, genetic studies have identified more than 60 genes associated with Parkinson’s disease (PD), with certain variants increasing risk while others may be protective. A pivotal observation in 1996 first linked Gaucher disease (GD) with PD, noting that patients with both conditions tended to have milder GD but earlier-onset, more aggressive PD. It is now well established that not only GD patients but also carriers of GBA1 mutations are at increased risk of developing PD, particularly those with variants other than N370S. GBA1-associated PD is recognized as one of the most common genetic contributors to the disease. Ongoing research into the underlying mechanisms—whether due to loss of enzyme function or toxic gain of function—has led to the development of diverse therapeutic strategies, including substrate reduction, gene therapy, and brain-penetrant pharmacological chaperones. As our understanding develops, there is a growing emphasis on identifying at-risk individuals in the prodromal phase, with the goal of introducing disease-modifying therapies early and potentially preventing PD progression.

This Special Issue will explore all aspects of genetic variants in Parkinson’s disease, with a particular emphasis on molecular mechanisms and structure–function relationships. Submissions should report on clinical studies or animal and cellular models, provided that they are clearly designed to address mechanistic hypotheses. Manuscripts lacking a strong molecular component are less likely to be considered.

We also wish to draw your attention to several upcoming scientific events closely aligned with this topic, including Parkinson Frontiers: Focus on GBA1, the GBA1 Meeting 2026, and the 7th International Conference on Rare Diseases. Participants in these meetings will be offered the opportunity to submit their work for this Special Issue with a publication discount.

Prof. Dr. Michael Schlossmacher
Prof. Dr. Ari Zimran
Guest Editors

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