Fig. 1

Study design. After weaning, at 3 weeks of age, all mice were socialized (S). At 4 weeks of age, the mice were trained in the rotarod protocol. The first rotarod test was conducted at 5 weeks of age, and afterwards once a week until the end of the study (12 weeks). The NPC2-deficient mice (Npc2−/−) were randomly allocated to the treatment group, and at 6 weeks of age, the Npc2−/− mice were either injected in the tail vein with the brain-specific adeno-associated viral vector encoding the Npc2 gene (AAV-BR1-NPC2) or with phosphate-buffered saline (PBS). Untreated wild-type (Npc2+/+) mice were included as controls. At 6, 9, and 12 weeks of age, gait and phenotype score was evaluated. At 12 weeks of age, the mice were euthanized, a blood sample was drawn, and organs of interest (brain, lung, spleen, and liver) were weighed and collected for further analyses. Created with BioRender.com