DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.
Irena Josephina Johanna Muffels, Kristin A. Kantautas, Georgia MacDonald, Kishore Garapati, Raghavendra Rao Pasupuleti, Rory James Tinker, Rameen Shah, Mathura A. Thevandavakkam, Justin Donnelly, Ron Hrtska, Douglas Smith, Jan Bert van Klinken, Frédéric Maxime Vaz, Akhilesh Pandey, Ethan O. Perlstein, , Éva Morava
This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.
medRxiv · Jun 5, 2026 · PreprintGenetic & Genomic Medicine