Furthermore, some recent studies have revealed that ALS cases associated with repeat expansions in C9ORF72, characterized by phenotypes of frontotemporal dementia with motor neuron disease and without cerebellar signs, have typical cerebellar p62-positive, TDP-43 negative cellular inclusions [60, 61] and show microstructural changes and cortical thinning in the cerebellum [64]. Here, TARDBP is linked to amyotrophic lateral sclerosis.