On May 15, 2024, a team of scientists led by National Institutes of Health (NIH) researchers announced it at had uncovered the complex molecular mechanisms underlying neurodegenerative disorders linked to the gene PNPLA6, which encompass a range of conditions affecting mobility, vision, and hormonal regulation.

Published in the journal BRAIN(link is external), the research offers a deeper understanding of PNPLA6-related conditions at clinical, genetic, and molecular levels, paving the way for tailored diagnostic and therapeutic approaches.