PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Symptom | |parkinsonism |
| Sentences | 151 |
| PubMedID- 23948919 | Juvenile frontotemporal dementia with parkinsonism associated with tau mutation g389r. |
| PubMedID- 22406380 | Recent studies have shown that pla2g6 is a causative gene for park14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset parkinsonism without added complicated clinical features. |
| PubMedID- 19914360 | Tauopathies include alzheimer's disease (ad), frontotemporal dementia with parkinsonism (ftdp) and the early-onset dementia observed in down syndrome (ds; trisomy 21). |
| PubMedID- 20851606 | There are few syndromes of parkinsonism with dementia which can be treated. |
| PubMedID- 22720190 | Ftd describes a heterogeneous group of neurodegenerative disorders, including pick's disease (pid), frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), argyrophilic grain disease (agd), corticobasal degeneration (cbd), and progressive supranuclear palsy (psp). |
| PubMedID- 22810281 | Some other causes of dementia associated with parkinsonism include drug-induced parkinsonism, vascular parkinsonism, normal pressure hydrocephalus, prion diseases including gerstmann-straussler-scheinker syndrome (see the chapter "rapidly progressing dementias"), alzheimer disease with extrapyramidal signs (see the chapter "alzheimer disease update"), and metabolic derangements that have a predilection for basal ganglia structures. |
| PubMedID- 26074756 | However, insoluble hyperphosphorylated filamentous tau forms the neurofibrillary tangles (nfts) and pick bodies that are diagnostic hallmarks of numerous neurodegenerative diseases including alzheimer's disease (ad), pick's disease, frontotemporal dementia with parkinsonism linked to chromosome 17, progressive supranuclear palsy and cortical basal degeneration (spillantini and goedert, 2013). |
| PubMedID- 22492994 | In a number of neurodegenerative diseases classified as tauopathies, which include frontotemporal dementia with parkinsonism associated with chromosome 17, progressive supranuclear palsy, corticobasal degeneration, and alzheimer's disease (ad), tau becomes hyperphosphorylated and aggregates into filaments, thus losing the ability to bind and stabilize microtubules (4,5). |
| PubMedID- 23951348 | One of the main hallmarks of the fronto-temporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) is the accumulation of neurofibrillary tangles in the brain as an outcome of the aggregation of mutated tau protein. |
| PubMedID- 20721342 | While to this day no mutations have been found in the tau-encoding mapt gene in ad patients, molecular analysis of another tauopathy, frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), has revealed characteristic mutations in this gene. |
| PubMedID- 23772223 | In addition to ad, neurofibrillary lesions are also abundant in other neurodegenerative diseases such as pick’s disease, progressive supranuclear palsy (psp), corticobasal degeneration (cbd), argyrophilic grain disease (agd), and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), where they occur in the absence of overt aβ deposition. |
| PubMedID- 20071510 | Frontotemporal dementia with parkinsonism-17-linked mutant isoforms were significantly less toxic in mb development. |
| PubMedID- 22286308 | Tau deficiency induces parkinsonism with dementia by impairing app-mediated iron export. |
| PubMedID- 22911817 | In recent years, it has been reported that mutations in the microtubule-associated protein tau gene (mapt) cause frontotemporal dementia with parkinsonism linked to the chromosome 17 2. |
| PubMedID- 24669286 | Mutations in tau gene cause frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) ; however, ad pathology is not related to mutations in the tau gene. |
| PubMedID- 24479894 | In contrast to ad, where mutations have not been identified on the tau gene (mapt), patients presenting fronto-temporal dementia with parkinsonism, associated with chromosome 17 (ftdp-17), exhibit tau mutations 1. |
| PubMedID- 26272360 | The tg30 murine tauopathy model expresses a human tau protein bearing two frontotemporal dementia with parkinsonism linked to chromosome 17 pathogenic mutations and develops a severe motor deficit and tau aggregates in brain and spinal cord. |
| PubMedID- 24653715 | In frontotemporal dementia with parkinsonism linked to tau on chromosome 17 (ftdp-17-tau), tau gene mutations induce nft formation and neuronal loss (5–8), suggesting that dysregulation of tau may be a cause of nft formation and neuronal death. |
| PubMedID- 20398172 | Reversible rapidly progressive dementia with parkinsonism induced by valproate in a patient with systemic lupus erythematosus. |
| PubMedID- 22654716 | In addition, ftdp-17 (frontotemporal dementia with parkinsonism linked to chromosome 17; the gene coding for tau is on chromosome 17) does not present with amyloid deposition as a neuropathological feature, yet still produces a profoundly dementing condition with symptoms often appearing before the fifth decade. |
| PubMedID- 26170022 | The relationship between tau proteins and pathophysiology is supported by the identification of autosomal dominant mutations in the tau gene, mapt, in various tauopathies, such as frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) (reviewed in ). |
| PubMedID- 22203915 | Mutations in the tau protein have not been found to cause ad but can lead to familial frontotemporal dementia with parkinsonism linked to chromosome 17 . |
| PubMedID- 24868411 | Results of routine laboratory investigations for dementia with parkinsonism and gene (mapt and progranulin) study for ftd were normal. |
| PubMedID- 22772665 | One patient developed a progressive vascular dementia with parkinsonism caused by autopsy-proven arteriolosclerosis. |
| PubMedID- 21555888 | Conclusion: although the p301l mutation identified here has been previously described as pathogenic for frontotemporal dementia with parkinsonism-17 (ftdp-17), the proband and his two affected relatives showed different clinical symptoms from those of typical ftdp-17 cases who carry the p301l mutation. |
| PubMedID- 24377094 | However, prominent parkinsonism associated with dementia and visual hallucinations fulfilling diagnostic criteria for lewy body dementia (lbd) have been only rarely associated with psen1 and psen2 mutations . |
| PubMedID- 23820890 | So far, successful trans-splicing between ptms and endogenous targets has been described for different genetic diseases such as hemophilia a,5 cystic fibrosis,6 spinal muscular atrophy,7,8 hyper-igm-x-linked immunodeficiency,9 frontotemporal dementia with parkinsonism linked to chromosome 17,10,11 epidermolysis bullosa with muscular dystrophy,12 and huntington's disease,13 most of them being 3′-trans-splicing approaches. |
| PubMedID- 24646911 | This mutation is related to the tauopathy named frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 23845100 | Wider overlap also occurs,including frontotemporal dementia with parkinsonism (ftdp-17) and lewy body dementia (wszolek etal., 2006). |
| PubMedID- 21348938 | In 1998, it was first discovered that mutations in the tau gene caused rare autosomal dominant neurodegenerative diseases (collectively known as frontotemporal dementia with parkinsonism linked to chromosome 17 ftdp-17) in which there was pronounced tau pathology but no aβ pathology . |
| PubMedID- 24252572 | Other tauopathies include frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), corticobasal degeneration (cbd), and pick’s disease 4. |
| PubMedID- 20193038 | Tauopathies, including alzheimer's disease and fronto-temporal dementia with parkinsonism linked to chromosome 17, are a group of neurodegenerative disorders characterized by the presence of intraneuronal filamentous inclusions of abnormally and hyperphosphorylated tau. |
| PubMedID- 20938027 | All 3 patients had early-onset l-dopa-responsive parkinsonism with dementia and frontotemporal lobar atrophy. |
| PubMedID- 20704554 | Mutations in the tau gene (mapt) causing familial frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) confirm that tau protein dysfunction could be a primary cause of neuronal loss. |
| PubMedID- 21618283 | Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy. |
| PubMedID- 23637700 | Frontotemporal dementia with parkinsonism) . |
| PubMedID- 21785700 | Molecularly cbd is a taupathy, characterised by accumulation of abnormal filamentous inclusions of hyperphosphorylated tau-protein in neurons and glia, similarly to progressive supranuclear palsy (psp), and some forms of frontotemporal dementia with parkinsonism (ftd) . |
| PubMedID- 21339331 | Changes of the microtubule-associated protein tau are central in alzheimer's disease (ad) and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 23882258 | The first tau transgenic mouse model of frontotemporal dementia with parkinsonism linked to tau on chromosome 17 (ftdp-17-tau) was the jnpl3 line, which overexpresses p301l mutant 4r0n tau (21). |
| PubMedID- 21723381 | Tauopathies include alzheimer's disease (ad), frontotemporal dementia with parkinsonism (ftdp-17), the early onset dementia observed in down syndrome (ds; trisomy 21) and the dementia component of myotonic dystrophy type 1 (dm1). |
| PubMedID- 24418258 | Double-transgenic mice expressing ttbk1 and frontotemporal dementia with parkinsonism-17-linked p301l (jnpl3) tau mutant (ttbk1/jnpl3) show increased accumulation of oligomeric tau protein in the cns and enhanced loss of motor neurons in the ventral horn of the lumbar spinal cord. |
| PubMedID- 22366770 | Herein, we describe the clinical, neuropathological, and genetic findings in a case of autosomal dominant behavioral variant of frontotemporal dementia (bvftd) with asymmetrical parkinsonism and prominent visuospatial deficits that carries a novel grn mutation. |
| PubMedID- 22388936 | It has previously been shown in humans that loss-of-function mutations in atp13a2 cause kufor–rakeb syndrome (krs), a very rare form of autosomal-recessive hereditary parkinsonism with dementia and juvenile onset (4). |
| PubMedID- 23357822 | Patients and methods: twenty-seven subjects were investigated for neurodegenerative dementia associated with parkinsonism of variable severity by fdg-pet and datscan spect. |
| PubMedID- 22561128 | The p301l mutation is causal for frontotemporal dementia with parkinsonism-17 (ftdp-17), but it has been used for studying memory effects characteristic of ad in transgenic mice. |
| PubMedID- 22817715 | Several mapt mutations causing the familial tauopathy, ftdp-17 (frontotemporal dementia with parkinsonism linked to chromosome 17), affect alternative splicing of exon 10, encoding a microtubule-binding motif. |
| PubMedID- 21103396 | Thus, the drug discovery strategy outlined in this report has significant clinical import, as c. elegans has been used to model several protein misfolding disorders including alzheimer's disease , frontotemporal dementia with parkinsonism chromosome 17 type , parkinson's disease , polyglutamine repeat disorders and amyotrophic lateral sclerosis . |
| PubMedID- 22654725 | Tauopathies comprise frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp17; see below), pick’s disease, corticobasal degeneration, progressive supranuclear palsy, and others. |
| PubMedID- 23609018 | Most models for tauopathy use a mutated form of the tau gene, mapt, that is found in frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) and that leads to rapid neurofibrillary degeneration (nfd). |
| PubMedID- 21274946 | We describe the use of dynamic combinatorial chemistry (dcc) to identify ligands for the stem-loop structure located at the exon 10-5'-intron junction of tau pre-mrna, which is involved in the onset of several tauopathies including frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |