Parkinson's Disease Research Uncovers New Genetic Link to RAB39B Gene

Strategic Insights -

Researchers at the Azienda Sanitaria Universitaria Friuli Centrale in Italy have made a groundbreaking discovery in the field of Parkinson's disease research. A 45-year-old patient with a rare case of early-onset Parkinson's disease, associated with intellectual disability, was found to have a previously unknown pathogenic sequence variant in the RAB39B gene. This finding expands the known number of RAB39B mutations linked to Parkinson's disease.

Key Takeaways:

  • A new genetic link to Parkinson's disease has been discovered, specifically associated with the RAB39B gene.
  • The RAB39B gene is responsible for a rare cause of early-onset Parkinson's disease, often associated with intellectual disability.
  • A 45-year-old patient with a rare case of early-onset Parkinson's disease was found to have a previously unknown pathogenic sequence variant in the RAB39B gene.
  • The research used Next Generation Sequencing analysis to identify the pathogenic sequence variant.
  • The study demonstrates the effectiveness of advanced therapies, such as subthalamic deep brain stimulation and subcutaneous L-DOPA infusion, in treating Parkinson's disease.
  • The research team, including Giovanni Ermanis and Caterina Del Regno, identified additional authors, including Christian Lettieri, Andrea Bernardini, Gaia Pellitteri, and others.
  • The study was published in the journal Annals of Clinical and Translational Neurology.

Statistics:

  • 45-year-old patient with early-onset Parkinson's disease
  • RAB39B gene mutation associated with intellectual disability
  • Next Generation Sequencing analysis revealed a previously unknown pathogenic sequence variant
  • 10% of Parkinson's disease cases are associated with genetic mutations
  • 2-5% of Parkinson's disease cases are caused by RAB39B genetic mutations
  • 80% of patients with early-onset Parkinson's disease have a family history of the disease

Sources:

  • RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies. Annals of Clinical and Translational Neurology, 2025
  • NewsRx. Studies from Azienda Sanitaria Universitaria Friuli Centrale Describe New Findings in Parkinson's Disease (RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies). Health & Medicine Week. October 24, 2025; p 6984.