PedAM

Pediatric Disease Annotations & Medicines

Disease	dementia
Symptom	C0026848\|myopathy
Sentences	23
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- 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- 23349634	Numerous mutations in the vcp gene have been linked with genetic disorders such as inclusion body myopathy with paget's disease of bone and fronto-temporal dementia (ibmpfd) and familial amyotrophic lateral sclerosis (als) , .
PubMedID- 22449146	Both neurofibromatosis type i (nf1) and inclusion body myopathy with paget's disease of bone and frontotemporal dementia (ibmpfd) are autosomal dominant genetic disorders.
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- 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- 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- 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- 21320982	Inclusion body myopathy with paget disease of bone and frontotemporal dementia linked to vcp p.arg155cys in a korean family.
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- 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- 22106714	Optn mutations also cause hereditary glaucoma and vcp causes inclusion body myopathy with frontotemporal dementia and paget's disease.
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- 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- 20301649	Inclusion body myopathy with paget disease of bone and/or frontotemporal dementia
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- 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- 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- 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- 26544960	Mutations in vcp have been linked to severe degenerative disorders including inclusion body myopathy with frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis .
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- 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 .

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