Fig. 1.

Frontal cortex and cerebellum tissue samples from the C9orf72+ group exhibit a significant decrease in C9orf72 mRNA expression levels. a Schematic representation showing the three known transcript variants of C9orf72. The star marks the repeat location. b, c qRT-PCR for C9orf72 transcript variants 1, 2, 3 and C9orf72 transcript variants 2, 3 were performed in frontal cortex (b) and cerebellum (c). Data on graphs were normalized to disease control group (mean value set to 1). Statistical differences were calculated by one-way ANOVA with Tukey post hoc test. *p < 0.05, **p < 0.01, ***p < 0.005. d, e ddPCR was used to calculate absolute levels of the less abundant C9orf72 transcript variant 1 in frontal cortex (d) and cerebellum (e). Transcript expression is expressed as number of copies per microliter. The mean expression and the range of expression across all samples tested are shown for each group. A clinical description of participants is available in Table 2 (online resource)