Rare Genetic Mutations Linked to Parkinson Disease Identified in Pilot Study

  • Movement disorders
  • Parkinson disease

In the PD GENEration: Mapping the Future of Parkinson's Disease pilot study (NCT04057794), approximately 17% of all participants tested positive for genetic mutations  linked to Parkinson Disease (PD).The PD GENEration is a first-of-its kind national initiative that offers free genetic testing for clinically relevant Parkinson-related genes and free genetic counseling to help participants better understand their results. 

Additionally, genetic test results have identified extremely rare genetic mutations linked to PD. Some study participants carry multiple mutations, meaning 1 person can carry 2 or more different genetic mutations associated with PD. These findings will significantly contribute to the biological understanding of the disease, helping researchers assess the impact of each mutation and which ones are more influential towards causing the disease. 

"These interim findings represent the cornerstone in our success to lay the foundation for precision medicine in PD," said James Beck, PhD, chief scientific officer of the Parkinson Foundation. "By better understanding the genetic implications for people with PD, scientists will be able to move research and treatments forward towards a cure."  

"This study is critical for the entire PD community," said John L. Lehr, president and chief executive officer of the Parkinson Foundation. "PD GENEration participants can now arm themselves with more information about their specific diagnosis while helping scientists advance PD research. We will continue to expand the PD GENEration study to better serve the PD community while moving research forward." 

The preliminary findings from the pilot study, launched in 2019, demonstrate the feasibility to conduct comprehensive genetic testing and genetic counseling for the larger PD community, as well as the identification of rare genetic mutation carriers linked to PD. 

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