Increased POLDIP3 exon 3 exclusion is an established marker of TDP-43 loss of function which has been validated post-mortem in ALS motor cortex, spinal cord and spinal motor neurons [71], and in ALS/FTD neuronal nuclei with loss of nuclear TDP-43 [62, 69]. The gene discussed is TARDBP; the disease is frontotemporal dementia.