MDS 2021 | Precision medicine in GBA-associated PD – where are we heading?

Although precision medicine in glucocerebrosidase (GBA)-associated Parkinson’s Disease (PD) is in its infancy, Alice Chen-Plotkin, MD, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, shares updates on the latest investigations in this area. There is an urgent need to identify carriers of GBA mutations, investigate how their clinical phenotype differs from non-GBA carriers, and elucidate the impact of different GBA mutations on the clinical characteristics of disease. Dr Chen-Plotkin also mentions ongoing clinico-genetic biomarker studies investigating the effects of GBA mutations on glucocerebrosidase enzymatic activity. Although there is a range of treatments available to promote symptom management in PD, Dr Chen-Plotkin urges the need to address gaps in two important aspects of PD: disease modification and cognitive decline. This interview took place during the 2021 International Congress of Parkinson’s Disease and Movement Disorders.