Most recently, mutations in ANXA11 have been associated with IBM with ALS/FTD and have been proposed to be categorized as MSP6 [2]. Missense mutations in PFN1 are associated with familial ALS whereas PFN1 haploinsufficiency is associated with early onset and polyostotic PDB [16, 17]. The gene discussed is PFN1; the disease is amyotrophic lateral sclerosis.