Weihl C.C.Temiz P.Miller S.E.Watts G.Smith C.Forman M.Hanson P.I.Kimonis V.Pestronk A.2024-07-222024-07-2220081468330Xhttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/18959TAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-LJ, due to mutations in the valosin containing protein (VCP) gene, occurs with an inclusion body myopathy (IBMPFD). Since IBMPFD brain has TDP-43 in UBIs, we looked for TDP-43 inclusions in IBMPFD muscle. In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles. In IBMPFD and sIBM muscle, TDP-43 migrated with an additional band on immunoblot similar to that reported in FTD-U brains. This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases.EnglishAll Open Access; Green Open AccessAdenosine TriphosphatasesAntigens, CD8Cell Cycle ProteinsDementiaDiagnosis, DifferentialDNA-Binding ProteinsElectromyographyHumansMuscle, SkeletalMutation, MissenseMyositis, Inclusion BodyPhosphorylationPoint MutationDNA binding proteinTDP 43unclassified drugarticlebraincytoplasmfrontotemporal dementiahumanhuman cellhuman tissueimmunoblottinginclusion body myopathyinclusion body myositismusclemuscle cellmyopathypathogenesispriority journalArticle10.1136/jnnp.2007.131334