PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Phenotype | C0026848|myopathy |
| Sentences | 23 |
| PubMedID- 25582679 | Inclusion body myopathy, paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the valosin containing protein (vcp) gene. |
| PubMedID- 24348398 | Only 12% of the patients with ibmpfd described in the literature had all the three major manifestations of the disease previously described; 50% had only two major manifestations in any combination (20% had inclusion body myopathy associated with frontotemporal dementia as did our proband). |
| PubMedID- 23349634 | This stimulatory effect was lost when we used vcp mutants (r155h, r159g, and r191q) known to cause inclusion body myopathy with paget's disease of bone and fronto-temporal dementia (ibmpfd) and/or familial amyotrophic lateral sclerosis (als). |
| PubMedID- 22557993 | Finally, type d refers to the pathology associated to inclusion body myopathy with paget’s disease of bone and frontotemporal dementia caused by chmp2b vcp gene mutations, and is characterized by numerous short dn and frequent lentiform nii. |
| PubMedID- 21304887 | Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in valosin-containing protein (vcp), a hexameric aaa atpase that participates in a variety of cellular processes such as protein degradation, organelle biogenesis, and cell-cycle regulation. |
| PubMedID- 23455423 | Inclusion body myopathy with frontotemporal dementia (ftd), paget’s disease of bone and amyotrophic lateral sclerosis (als) (sometimes called “ibmpfd/als”) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone accompanied by prominent tdp-43 pathology1. |
| PubMedID- 23629963 | Mutations in the prion-like domains of hnrnpa1 and hnrnpa2/b1 cause familial forms of inclusion body myopathy with frontotemporal dementia, paget’s disease of bone, and als (sometimes called “ibmpfd/als”), and mutations in the prion-like domain of hnrnpa1 are also connected with familial and sporadic als (kim et al., 2013). |
| PubMedID- 20490813 | Mutations in valosin-containing protein (vcp) cause inclusion body myopathy and paget disease of bone with frontotemporal dementia, in which 20–100% of patients can develop ftd [10, 53, 56]. |
| PubMedID- 22106714 | Optn mutations also cause hereditary glaucoma and vcp causes inclusion body myopathy with frontotemporal dementia and paget's disease. |
| PubMedID- 26544960 | Mutations in vcp have been linked to severe degenerative disorders including inclusion body myopathy with frontotemporal dementia (ibmpfd) [23] and amyotrophic lateral sclerosis [21]. |
| PubMedID- 25724235 | Valosin containing protein (vcp)-associated multisystem proteinopathy is a new hereditary disorder associated with inclusion body myopathy, paget disease of bone (pdb), frontotemporal dementia (ftd) and als. |
| PubMedID- 22449146 | Mutations in the vcp gene result in inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als). |
| PubMedID- 24119107 | Valosin containing protein (vcp) disease (also known as inclusion body myopathy, paget disease of bone and frontotemporal dementia [ibmpfd] syndrome) is caused by mutations in the gene encoding vcp classically affecting the muscle, bone and brain. |
| PubMedID- 23606855 | In this autosomal dominant disease, inclusion-body myopathy is associated with frontotemporal dementia and is caused by mutations in the valosin containing protein gene. |
| PubMedID- 22105171 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder characterized by progressive myopathy that is often accompanied by bone weakening and/or frontotemporal dementia. |
| PubMedID- 21320982 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia linked to vcp p.arg155cys in a korean family. |
| PubMedID- 23782824 | Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is caused by mutations in the valosin-containing protein (vcp) gene. |
| PubMedID- 23715207 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (vcp) with typical onset of symptoms in the 30s. |
| PubMedID- 25775548 | Dominant mutations in p97/vcp (valosin-containing protein) cause a rare multisystem degenerative disease with varied phenotypes that include inclusion body myopathy, paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. |
| PubMedID- 24291843 | Inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disease caused by mutations in the vcp gene. |
| PubMedID- 22040362 | Background and purpose: mutations in the valosin-containing protein (vcp) gene are known to cause inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) and familial amyotrophic lateral sclerosis (als). |
| PubMedID- 21920633 | Mutations in the valosin-containing protein gene (vcp) have been identified in neurological disorders (inclusion body myopathy--early paget's disease of the bone--frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins. |
| PubMedID- 20301649 | Inclusion body myopathy with paget disease of bone and/or frontotemporal dementia |
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