Neuropathological studies revealed multisystem neuronal degeneration via intraneuronal aggregation and axonal spreading of soluble forms of transactive response DNA binding protein 43 kDa (TDP-43) and, thus, shares some pathophysiological aspects with other neurodegenerative diseases, particularly frontotemporal dementia (FTD) [2, 3]. The gene discussed is TARDBP; the disease is frontotemporal dementia.