PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Symptom | |parkinsonism |
| Sentences | 151 |
| PubMedID- 23774255 | We report here the analysis of epileptic activity and neuropathological correlates of a transgenic line over-expressing human mutant tau, a model of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 21949350 | Pedigree studies in hereditary cases of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) (3,4) identified mutations in the mapt gene, demonstrating that dysregulated or dysfunctional tau can be a causative factor in inducing neurodegeneration. |
| PubMedID- 24551850 | More than 40 mutations in the mapt gene have been also found to cause frontotemporal dementia with parkinsonism-17 (ftdp-17) . |
| PubMedID- 21965302 | Here, we use a drosophila model of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), in order to study the neuroprotective capacity of a recently identified neuronal maintenance factor, nicotinamide mononucleotide (nad) adenylyl transferase (nmnat), a protein that has both nad synthase and chaperone function. |
| PubMedID- 23482655 | A prime example of this is mapt, which has rare variants leading to frontotemporal dementia with parkinsonism linked to chromosome 17, as well as common variants within a haplotype block that associate with multiple taupathies (reviewed ). |
| PubMedID- 19716367 | Similarly, genetic studies of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17 mapt) showing that mutations in the mapt gene encoding tau lead to abnormal tau accumulation and neurodegeneration. |
| PubMedID- 23199066 | Another ftd is frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) that is characterized by frontal atrophy often seen with tau-positive neuronal and glial inclusions with behavioral changes, cognitive decline and parkinsonism . |
| PubMedID- 26306801 | She was diagnosed clinically as having possible frontotemporal dementia with parkinsonism-17 (ftdp-17) but subsequent genetic analysis did not reveal any mapt mutation. |
| PubMedID- 24565469 | Atypical parkinsonism with a frontal-subcortical dementia, psychosis, and a wingflapping/beating tremor may be observed . |
| PubMedID- 21665991 | Mutations in atp13a2 (park9) have been linked to juvenile parkinsonism with dementia or kufor-rakeb syndrome (krs). |
| PubMedID- 21907761 | When bearing certain frontotemporal dementia with parkinsonism (ftdp) mutations, overexpression of human tau resulted in a decrease of the dentate gyrus ventral blade, apparently due to a reduction in the proliferation of neuronal precursors and an increase in neuronal cell death. |
| PubMedID- 25076872 | Hyperphosphorylation of microtubule-associated protein tau is one of the major pathological events in alzheimer's disease (ad) and other related neurodegenerative diseases, including frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 20301678 | Cbd is a progressive neurodegenerative disorder which affects both the frontoparietal cortex and the basal ganglia, resulting in a mild to moderate dementia in combination with asymmetric parkinsonism, ideomotor apraxia, aphasia, and an alien-hand syndrome. |
| PubMedID- 25038828 | An imbalance of tau isoforms containing either three or four microtubule-binding repeats causes frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) in families with intronic mutations in the mapt gene. |
| PubMedID- 21423426 | Therefore, mutations in the α-synuclein gene can cause a spectrum of clinical phenotypes ranging from pure parkinsonism to parkinsonism with dementia and dlb. |
| PubMedID- 24464041 | The discovery of dominant mutations in the tau gene linked to a familial neurodegenerative disorder, frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), confirms tau as a causal factor in neurodegenerative disease pathogenesis2-4. |
| PubMedID- 22545037 | Frontotemporal dementia (ftd) with parkinsonism linked to chromosome 17 (ftdp-17) 1. |
| PubMedID- 23267344 | The three clinical forms (als, atypical parkinsonism with dementia, and dementia alone) have a single pathology (polyproteinopathy, notably tauopathy), just as the rosetta stone is inscribed with three distinct scripts bearing a common message. |
| PubMedID- 22110426 | More recently, it has been proposed that the deregulation of gsk-3β might affect other tauopathies like frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17; perez et al., 2000). |
| PubMedID- 24503275 | Frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) is a neurodegenerative tauopathy caused by mutations in the tau gene (mapt). |
| PubMedID- 20110589 | This review focuses on the roles of pin1 in neurodegenerative disorders including alzheimer's disease, parkinson's disease, amyotrophic lateral sclerosis, and frontotemporal dementia associated with parkinsonism linked to chromosome 17. |
| PubMedID- 22847631 | Tauopathies like the "frontotemporal dementia with parkinsonism linked to chromosome 17" (ftdp-17) are characterized by an aberrant accumulation of intracellular neurofibrillary tangles composed of hyperphosphorylated tau. |
| PubMedID- 25510338 | This mutation causes a progressive neurodegenerative disease in humans (frontotemporal dementia with parkinsonism linked to chromosome 17). |
| PubMedID- 22166425 | Characteristics of dementia in parkinsonism include progressive deficits in attention and executive function. |
| PubMedID- 25853458 | Although the patients described here lacked mnd, close relatives presented a wide range of clinical phenotypes including dementia with parkinsonism, progressive supranuclear palsy and als. |
| PubMedID- 26528178 | In 1990s, linkage analysis in families affected by frontotemporal dementia with parkinsonism (ftdp) and pathologically characterized by tau deposits in neuronal and glial cells indicated that the candidate gene lied at 17q21–22, where mapt is located, and in 1998 sequencing analysis finally revealed pathological mutations of mapt (ftdp linked to chromosome 17-tau, ftdp-17t). |
| PubMedID- 19711202 | 1998), while sfrs11 regulates the alternative splicing of tau, the missplicing of which causes frontotemporal dementia with parkinsonism linked to chromosome 17, an autosomal dominant neurodegenerative disorder (wu et al. |
| PubMedID- 22720188 | These are tightly linked to the disease in families suffering autosomal dominant frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) . |
| PubMedID- 23966973 | These include frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) caused by tau mutations, pick disease, corticobasal degeneration, dementia pugilistica, and progressive supranuclear palsy. |
| PubMedID- 22323211 | Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of c9orf72: a peculiar phenotype. |
| PubMedID- 23001634 | Mutations in the microtubule-associated protein tau gene (mapt) can cause frontotemporal dementia with parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, parkinson's disease, corticobasal degeneration, and multiple system atrophy. |
| PubMedID- 23962722 | Hyperphosphorylated tau (p-tau) is the primary component of neurofibrillary tangles (nfts), a pathological hallmark of several neurodegenerative diseases including alzheimer's disease (ad), frontotemporal dementia with parkinsonism associated with chromosome 17, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy, which has recently gained significant attention due to sports- and military-related injuries (1–4). |
| PubMedID- 25853683 | The clinical signs of various tauopathies including alzheimer disease (ad) and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) correlate well with the anatomical localization of tau aggregates in the brain 2. |
| PubMedID- 24381528 | The mutation of chromosome 17 linked to frontotemporal dementia (ftd) with parkinsonism showed a direct correlation with the occurrence of tau hyper-phosphorylation. |
| PubMedID- 24289466 | L-3,4-dihydroxyphenylalanine (l-dopa) has been the gold standard for pharmacotherapy for parkinsonism in patients with dementia with lewy bodies (dlb). |
| PubMedID- 24179441 | In 1994, an inherited form of fronto-temporal dementia with parkinsonism was related to chromosome 17 (ftdp-17) . |
| PubMedID- 24147055 | We analyzed the frequency of dementia associated with parkinsonism as a group termed lbdis, using a temporary criterion to differentiate between dlb and pdd. |
| PubMedID- 21311748 | Interestingly, one of the target genes was encoding the tau protein, which is abundantly expressed in central nervous system and enhanced inclusion of exon 10 causes neurodegenerative diseases as frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) . |
| PubMedID- 25974414 | Tau proteins aggregate into filaments in a large group ofneurodegenerative disorders referred to as tauopathies, such as alzheimer'sdisease (ad) and frontotemporal dementia with parkinsonism linked to chromosome 17(ftdp-17)9. ad is the most common tauopathy and form ofdementia. |
| PubMedID- 20460118 | Tauopathies, including alzheimer's disease (ad), fronto-temporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), pick's disease and progressive supranuclear palsy, are neurodegenerative disorders neuropathologically characterized by the presence of intraneuronal fibrillary inclusions composed of abnormally phosphorylated-tau. |
| PubMedID- 21423457 | Beyond ad, other tauopathies include progressive supranuclear palsy (psp), corticobasal degeneration (cbd), and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17; bird et al., 1999; gasparini et al., 2007). |
| PubMedID- 24191153 | These neuronal disorders include: pick’s disease, corticobasal degeneration (cbd), progressive supranuclear palsy (psp), frontotemporal dementia with parkinsonism linked to chromosome 17 (dftp-17) and alzheimer’s disease (ad). |
| PubMedID- 24873925 | Heterogeneous pathologies associated with dementia in parkinsonism share a prion-like spreading mechanism. |
| PubMedID- 22125446 | Mutant p201s tau, as found in frontotemporal dementia with parkinsonism (fdtp-19), is capable of spreading through the cortex of an alz 17 tg mouse expressing the human wild type protein and induce an nft-like pathology that consists of human tau in brain areas distant from the injection site . |
| PubMedID- 24740977 | Spencer et al reported two cases of als and three cases of parkinsonism, including one with dementia, in their survey in 1987.10 they also reported three subjects with parkinsonism overlapping umn signs, including one with dementia in 1990.10 we have here reported 17 cases of pure als (probable or definite), 13 cases of overlapping als-parkinsonism, and 16 cases of parkinsonism with or without ci in the 46 cases we examined fully neurologically. |
| PubMedID- 21892619 | Frontotemporal dementia is commonly associated with parkinsonism in several sporadic (i.e., progressive supranuclear palsy, corticobasal degeneration) and familial neurodegenerative disorders (i.e., frontotemporal dementia associated with parkinsonism and mapt or progranulin mutations in chromosome 17). |
| PubMedID- 23948895 | Tau gene mutations have been found in frontotemporal dementia with parkinsonism linked to chromosome 17, suggesting that mutation of tau induces tauopathy. |
| PubMedID- 22176890 | The induction and spread of both aβ and tau aggregates in experimental animals is well documented (see mutant p201s tau), as found in frontotemporal dementia with parkinsonism (ftdp-17); it is capable of spreading through the cortex of an alz17 tg mouse expressing the human wild-type protein and induce an nft-like pathology that consists of human tau in brain areas distant from the injection site . |
| PubMedID- 23164372 | Ad: alzheimer’s disease; ago2: argonaute-2, eukaryotic translation initiation factor 2c; als: amyotrophic lateral sclerosis; ang: angiogenenin; atx2: ataxin-2; cpeb: cytoplasmic polyadenylation element binding protein; 4e-bp: eukaryotic translation initiation factor 4e-binding protein; eif2, 3: elongation initiation factor 2, 3; eif4e: elongation initiation factor 4e; fmrp: fragile x mental retardation protein; ftdp-17: frontotemporal dementia with parkinsonism, chromosome 17; ftld-tdp: frontotemporal lobar dementia with tdp-43; fus: fused in sarcoma; g3bp: gtpase activating protein binding protein; gcn2: gcn2 eif2α kinase; eif2α kinase 4; hdac6: histone deacetylase 6; hri: heme regulated initiation factor 2α kinase; eif2α kinase 1; hsp70: heat shock protein 70; hur: hu antigen r, elav-like protein 1; lrrk2: leucine rich repeat kinase 2; 7mg: 7-methylguanosine; mglur: metabotropic glutamate receptor; mi125a: microrna 125a; opt: optineurin; pabp: poly-a binding protein; perk: prkr-like endoplasmic reticulum kinase; eif2α kinase 3; pkr: p1/eif-2a protein kinase; eif2α kinase 2; prpsc: prion protein, pathological form; psd95: post-synaptic density protein 95; risc: rna induced silencing complex; rrm: rna recognition motifs; sg: stress granule; smn: survival of motor neuron; tdp-43: tar dna binding protein-43; tia-1: t-intracellular antigen-1; tiar: tia1 cytotoxic granule-associated rna binding protein-like 1; ttp: tristetraprolin. |
| PubMedID- 24628994 | More specifically, the majority of transgenic models are constructed based on tau pathogenic mutations from frontotemporal dementia with parkinsonism-17 (ftdp-17), producing 4r pathology . |