Whereas a haploinsufficiency of PGRN results in frontotemporal lobar degeneration accompanied by TDP-43 accumulation, a homozygous mutation in PGRN is associated with lysosomal storage diseases, including neuronal ceroid lipofuscinosis and Gaucher disease [87, 88]. The gene discussed is GRN; the disease is infantile neuronal ceroid lipofuscinosis.