Figure 5

Expanded GGC repeat in NOTCH2NLC formed toxic RNA foci. Skin biopsies from the control, asymptomatic carrier and NIID-affected individuals were analysed by RNA FISH combined with immunofluorescence. Arrows indicate expanded GGC repeat in NOTCH2NLC mRNA formed RNA foci and are colocalised with Sam68 and p62 in the intranuclear inclusions in NIID-affected individuals but not in the control or asymptomatic carrier. Scale bar: 25 µm. NIID, neuronal intranuclear inclusion disease.