Genetic & Genomic MedicinemedRxivPreprint
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…·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.
DOI 10.64898/2026.05.28.26354198