| Debug Stats | ### Total Build Time: 66 ms 56.195 KB CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 344 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 330 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 201 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 569 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 5.438 KBCONCEPT_RELATIONSHIPS gt=41 ms Completed: 41 ms rowSize= 14.030 KBCONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 34.124 KBCONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
|
Genes (17)
Species:
human : 17 | |
| Human | MIR659 | 724029 | microRNA 659 | Genetic variability in a miR-659 binding-site of GNR increased the risk for TDP-43 positive frontotemporal dementia | | Human | STH | 246744 | saitohin | The saitohin Q allele, a novel determinant of tau H1 haplotypes, may represent a causative factor involved in the determinism of several tauopathies, e.g., frontotemporal dementia | | Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls | | Human | CHMP2B | 25978 | charged multivesicular body protein 2B | CHMP2B can be excluded as a susceptibility gene conferring risk to sporadic forms of frontotemporal dementia CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia | | Human | TARDBP | 23435 | TAR DNA binding protein | TDP-43 inclusions seen in frontotemporal dementias and motor neuron diseases are specific to a neurodegenerative process familial aggregation & clinical presentation of frontotemporal dementia + motor neuron disease; TDP-43 antibody stained neuronal inclusions similar in distribution & morphology to neuronal cytoplasmatic inclusions & neuronal intranuclear inclusions | | Human | SQSTM1 | 8878 | sequestosome 1 | In frontotemporal dementia, the degenerative process involves p62, and the process takes place not only in neurons but also in glial cells | | Human | VCP | 7415 | valosin containing protein | Mutations of the valosin-containing protein gene (VCP) at 9p13 cause inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia Frontotemporal dementia with inclusion body myopathy and Paget's disease of bone (IBMPFD) is a rare, autosomal dominant disorder caused by mutations in the gene valosin-containing protein (VCP) A 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding Frontotemporal dementia (in 30% of patients) A patient with Inclusion body myopathy with Paget disease of bone and frontotemporal dementia carried a novel heterozygous base pair change, 47832C>T, in the VCP gene that resulted in substitution of an arginine residue by cysteine at position 93 (R93C) | | Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | The composite Guam parkinsonism-dementia complex neuropathology profile of tau, alpha-synuclein and 8, 12-iso-iPF(2alpha)-VI isoprostane reported here more closely resembles that seen in other tauopathies including frontotemporal dementias (FTDs) | | Human | PSEN1 | 5663 | presenilin 1 | Phenotypic overlap with frontotemporal dementia ({600274}) Title:Familial frontotemporal dementia associated with a novel presenilin-1 mutation.|Association:Y|Conclusion:We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present. Alternative transcripts of presenilin 1 are associated with sporadic frontotemporal dementia, deletions having been identified within the exon 4-8 region | | Human | KLK10 | 5655 | kallikrein-related peptidase 10 | Kallikrein K10 is decreased in cerebrospinal fluid (CSF) of frontotemporal dementia patients and K10 is increased in CSF of Alzheimer patients, compared to control subjects | | Human | RELN | 5649 | reelin | Increased levels of the 180-kDa isoform of reelin in the cerebrospinal fluid of patients with frontotemporal dementia and Alzheimer's disease suggests the involvement of reelin signaling in neurodegenerative pathologies | | Human | PRNP | 5621 | prion protein | We report a case of Gerstmann-Straussler-Scheinker disease with the PRPc Q217R mutation mimicking frontotemporal dementia | | Human | PIN1 | 5300 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | Pin1 redistribution and shortfalls occur in frontotemporal dementias characterized by abnormal protein aggregates of tau and other cytoskeletal proteins. may be unifying, contributory factor towards neuronal death in these dementias | | Human | MAPT | 4137 | microtubule-associated protein tau | Click here to display 16 evidence detail records. | | Human | MAOA | 4128 | monoamine oxidase A | our data nevertheless argue against a major genetic role of MAO-A polymorphism in frontotemporal dementia | | Human | GRN | 2896 | granulin | This study discovered a new PGRN mutation (R493X) resulting in a stop codon in two frontotemporal dementia patients A single GRN mutation in the two families studied was associated with variable clinical presentations consistent with the frontotemporal dementia syndrome 2 pathogenic progranulin gene mutations in 4 frontotemporal dementia families were discovered: a single-base substitution within the 3' splice acceptor site of intron 6/exon 7 (g.5913A>G [IVS6-2A>G]) & a missense mutation in exon 1 (g.4068C>A) findings add further support to the significance of GRN in frontotemporal dementia etiology and the presence of modifying genes Most common subtype of frontotemporal dementia ({600274}) Study reports that PGRN levels are reduced in the cerebrospinal fluid from frontotemporal lobe dementia patients with a PGRN mutation; PGRN and its proteolytic fragments promote neuronal survival and enhance neurite outgrowth in cultured neurons the mutation spectrum in PGRN leading to loss of functional PGRN as the basis for frontotemporal dementia PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia An asymmetric degenerative process is associated with mutations in the progranulin (PGRN) gene and is seen in 3 PGRN cases presenting with either corticobasal syndrome or frontotemporal dementia and language deterioration PGRN haploinsufficiency leads to neurodegeneration because of reduced PGRN-mediated neuronal survival; and involvement of PGRN in frontotemporal dementia pathogenesis We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with "cat's eye" shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam | | Human | APOE | 348 | apolipoprotein E | apoe4 allele frequency is increased in patients with the temporal variant of frontotemporal dementia compared to non-demented controls Title:Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.|Association:Not Found|Conclusion:Not Found E2 allele seems to be a risk factor of frontotemporal dementia but is associated with the lowest risk in Alzheimer's disease |
|
