TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia
| dc.contributor.author | Weihl C.C. | |
| dc.contributor.author | Temiz P. | |
| dc.contributor.author | Miller S.E. | |
| dc.contributor.author | Watts G. | |
| dc.contributor.author | Smith C. | |
| dc.contributor.author | Forman M. | |
| dc.contributor.author | Hanson P.I. | |
| dc.contributor.author | Kimonis V. | |
| dc.contributor.author | Pestronk A. | |
| dc.date.accessioned | 2025-04-10T11:16:24Z | |
| dc.date.available | 2025-04-10T11:16:24Z | |
| dc.date.issued | 2008 | |
| dc.description.abstract | TAR 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. | |
| dc.identifier.DOI-ID | 10.1136/jnnp.2007.131334 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.14701/51784 | |
| dc.title | TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia | |
| dc.type | Article |