Fig. 7

Cholesterol storage in the brain after AAV-BR1-directed gene therapy. The cholesterol accumulation (visualized using Filipin staining) is reduced in the cortex cerebri (a–c) and the CA3 region of the hippocampus (d- f) of AAV-BR1-NPC2-treated Npc2−/− mice (c, f, i, l) compared to untreated Npc2−/− mice (b, e, h, k). There is no obvious difference when comparing cholesterol storage in the cortex cerebelli (g–i) and deep cerebellar nucleus (j–l) of the treated vs. untreated Npc2−/− groups. No cholesterol storage is seen in Npc2+/+ control littermates (a, d, g, j). Images are representative of n = 4 mice/group (Npc2+/+ and Npc2−/−) and 3 out of 4 AAV-BR1-NPC2-treated Npc2−/− mice (high responders). Scalebar = 50 µm and 20 µm (white boxes)