MDS 2021 | Uncovering novel GBA variants in Parkinson’s disease

Enza Maria Valente, MD, PhD, IRCCS Mondino Foundation & University of Pavia, Pavia, Italy, discusses the importance of capturing the genetic complexity of glucocerebrosidase (GBA) variants and some of the challenges presented when sequencing variants. For instance, due to the presence of a pseudogene situated close to the GBA-encoding gene, there is a need to develop specific protocols to avoid mistakenly sequencing it. A number of recurring mutations are well researched, but other less common GBA variants can be more difficult to identify. Prof. Valente also discusses the gaps in our knowledge of the enzymatic activity resulting from lesser-known mutations. The impact of complex mutations at the protein level and their correlation with the clinical presentation of the disease demands further investigation. This interview took place during the 2021 International Congress of Parkinson’s Disease and Movement Disorders.