Supplementary Figure 7: Expression of short stathmin-2 RNA is a hallmark of affected spinal motor neurons and motor cortex of sporadic ALS patients.

(a) RT-PCR using primers targeted to exon 1 and exon 2a confirms expression of stathmin-2 truncated RNA in anterior horns of thoracic spinal cord from sporadic ALS patients (n = 7), but not in control spinal cords (n = 5). (b) RT-PCR using primers targeted to exon 1 and exon 2a confirms expression of stathmin-2 truncated RNA in frontal cortex from sporadic and C9orf72 ALS patients diagnosed with frontotemporal dementia, but not in control. For uncropped gel images related to a and b panels, see Supplementary Fig. 11. (c) Motor cortex and (d) spinal cord sections isolated from healthy individuals and sporadic ALS patients were hybridized with LNA probes targeting intron one of stathmin-2 pre-mRNA (for truncated RNA) or exon 5 of stathmin-2 pre-mRNA. Signal is shown in blue, counterstain is nuclear fast red. Experiment was replicated with similar results in n = 5 ALS patients and n = 5 control individuals with a total of: 7 replicate experiments in motor cortex, 6 replicates in cervical spinal cord, 4 replicates in thoracic spinal cord, and 5 replicates in lumbar spinal cord. Each replicate tissue slide contained serial sections probed for the short and long RNA targets and each contemporaneous hybridization and staining batch included slides hybridized with control probes.