PedAM
Pediatric Disease Annotations & Medicines
| Disease | dementia |
| Symptom | C0242422|parkinsonism |
| Sentences | 151 |
| PubMedID- 21760990 | Tau-bearing neurofibrillary tangles remain one of the pathological hallmarks of ad but are also central to a diverse group of disorders termed “tauopathies” which include progressive supranuclear palsy, corticobasal ganglionic degeneration, frontotemporal dementia (ftd) with parkinsonism linked to chromosome 17, and other disorders . |
| PubMedID- 22254145 | Mutations in the tau gene, which give rise to frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) 6, are capable of inducing these tau modifications. |
| PubMedID- 21319744 | (8) nfts also exist in other neurodegenerative diseases such as frontotemporal dementia with parkinsonism linked to chromosome 17. these related diseases and alzheimer’s disease are collectively termed tauopathies. |
| PubMedID- 23459933 | Tauopathies include alzheimer's disease (ad), a subgroup of frontotemporal lobar degeneration (ftld-tau) and the inherited tauopathy, frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), caused by dominant mutations in the mapt gene, encoding tau. |
| PubMedID- 23883611 | In this respect, identification of the familial ad- and tauopathy (ftdp-17: frontotemporal dementia with parkinsonism liked to chromosome 17)-causing gene mutations and analyses of their phenotypes in the 1990s have played a major, indispensable role in resolving the etiology of ad.6,9–12) consensus has now been reached in that the decades-long cascade leading to dementia is initiated by the accumulation of aβ in the brain and that tauopathy is likely to play a major role in the neurodegenerative processes downstream of aβ deposition although there may possibly exist a tauopathy-independent pathway(s). |
| PubMedID- 23300938 | We chose the human p301s tau transgenic mouse line, a well established model of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 21282112 | There is great interest in splicing-targeted therapies for a number of human disorders, including spinal muscular atrophy, frontotemporal dementia with parkinsonism on chromosome 17, and familial dysautonomia (56–59). |
| PubMedID- 21629747 | In tauopathies such as frontotemporal dementia with parkinsonism (ftdp) linked to chromosome 17, the presence of some mutations in tau protein correlates with the onset of the disease . |
| PubMedID- 22280354 | Intraneuronal accumulation of abnormal phosphorylated tau (p-tau) is a molecular pathology in many neurodegenerative tauopathies, including alzheimer's disease (ad) and frontotemporal dementia with parkinsonism-linked to chromosome 17 (ftdp-17). |
| PubMedID- 20570546 | Familial frontotemporal dementia with parkinsonism associated with the progranulin c.c1021t (p.q341x) mutation. |
| PubMedID- 23964266 | Tauopathies include alzheimer’s disease (ad), fronto-temporal dementia with parkinsonism on chromosome-17 (ftdp-17), pick’s disease, corticobasal degeneration (cbd), progressive supranuclear palsy (psp), and others (1). |
| PubMedID- 25694106 | To address this issue, we conducted a systematic review and meta-analysis of japanese fad and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) by literature search. |
| PubMedID- 21269457 | Neurofibrillary tangles are found in a number of other diseases termed 'tauopathies' which include frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), pick's disease, progressive supranuclear palsy and corticobasal degeneration. |
| PubMedID- 22073301 | These include bipolar mood disorder , diseases like huntington's disease and alzheimer disease 8. |
| PubMedID- 21040568 | Results: here, we found that neuroprotection alone caused by methylene blue (mb), the parent compound of the anti-tau phenothiaziazine drug, rember, was insufficient to rescue cognition in a mouse model of the human tauopathy, progressive supranuclear palsy (psp) and fronto-temporal dementia with parkinsonism linked to chromosome 17 (ftdp17): only when levels of soluble tau protein were concomitantly reduced by a very high concentration of mb, was cognitive improvement observed. |
| PubMedID- 20871666 | Tau mutations cause frontotemporal dementia with parkinsonism- (ftdp-) 17, proving that tau dysfunction can directly promote neurodegeneration 1. |
| PubMedID- 22862741 | Characteristic tau isoform composition of the insoluble fibrillar tau inclusions define tauopathies, including alzheimer's disease (ad), progressive supranuclear palsy (psp) and frontotemporal dementia with parkinsonism linked to chromosome 17/frontotemporal lobar degeneration-tau (ftdp-17/ftld-tau). |
| PubMedID- 21569597 | Missense and exon 10 splicing mutations in mapt lead to frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), whereas a region of ld within mapt, known as the h1 haplotype is associated with increased risk of taupathies, namely, corticobasal degeneration (cbd) and progressive supranuclear palsy (psp) compared with the (reviewed in ). |
| PubMedID- 25428250 | Cathepsin d in a murine model of frontotemporal dementia with parkinsonism-linked to chromosome 17. |
| PubMedID- 25492702 | It is important to note that neurofibrillary lesions are also abundant in other neurodegenerative diseases, such as pick’s disease, progressive supranuclear palsy, corticobasal degeneration, argyrophilic grain disease, and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), the latter caused by mutations in the mapt gene. |
| PubMedID- 23016833 | A family history existed of behavioral decline in nt's mother from age 50, and dementia with parkinsonism in a maternal uncle. |
| PubMedID- 23667123 | An autopsied case of argyrophilic grain dementia with parkinsonism due to multiple lacunar infarctions. |
| PubMedID- 20854651 | The resulting pathologies may be driven separately by the different transgenes: plaque pathology by the ad-associated app and ps1 mutations; tau pathology by the frontotemporal dementia with parkinsonism-chromo-some 17 (ftdp-17) mutation in tau; and lewy body pathology by the familial pd-associated mutation in snca. |
| PubMedID- 21656039 | It has also been reported that frontotemporal dementia associated with parkinsonism can be linked to chromosome 9p. |
| PubMedID- 26373282 | Background: pallido-ponto-nigral degeneration (ppnd), a major subtype of frontotemporal dementia with parkinsonism related to chromosome 17 (ftdp-17), is a progressive and terminal neurodegenerative disease caused by c.837 t > g mutation in the mapt gene encoding microtubule-associated protein tau (rs63750756; n279k). |
| PubMedID- 21492964 | We have generated a novel knockin mouse model of an inherited tauopathy, frontotemporal dementia with parkinsonism linked to tau mutations on chromosome 17 (ftdp-17t). |
| PubMedID- 21755018 | However, while stox1a expression is found primarily in the brain and dysregulation of the balance between glial 4r/3r tau ratio by a selective increase in either 3r-tau or 4r-tau is commonly seen in a range of diverse neurodegenerative diseases other than load, including frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17), pick's disease (pd), progressive supranuclear palsy (psp), and corticobasal degeneration , further exploration of where stox1a and/or sfrs7 expression are found in these neurodegenerative diseases would yield great insight of their involvement. |
| PubMedID- 24267573 | Aβ: amyloid-β; ad: alzheimer’s disease; app: amyloid precursor protein; bace: β-site app-cleaving enzyme; dappl: app-like, drosophila melanogaster ortholog of app; dpsn: drosophila melanogaster ortholog of presenilin; egfr: epidermal growth factor receptor; ep: enhancer-promoter; ftdp-17: frontotemporal dementia with parkinsonism linked to chromosome 17; gsk3β: glycogen synthase kinase 3β; gwas: genome-wide association studies; mt: microtubuli; par1: protease activated receptor 1; rep: rough eye phenotype; rnai: rna interference; shrna: short hairpin rna; uas: upstream activating sequence. |
| PubMedID- 20662935 | We expressed wild type and six clinical frontotemporal dementia with parkinsonism (ftdp) mutants of human protein tau in wild-type yeast cells and cells lacking mds1 or pho85, the respective orthologues of the tau kinases gsk3beta and cdk5. |
| PubMedID- 22623900 | As described earlier in this paper, mutations of mapt cause frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 25731625 | Tau mutations on chromosome 17, which cause autosomal dominant frontotemporal dementia with parkinsonism (ftdp-17), increase 4-r:3-r tau ratio or missense protein mutations, both of which are more easily abnormally hyperphosphorylated than the wild-type protein. |
| PubMedID- 25377499 | Frontotemporal dementia with parkinsonism linked to chromosome 17 with the mapt r406w mutation presenting with a broad distribution of abundant senile plaques. |
| PubMedID- 24653673 | Notably, tau missense mutations found in frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17; goedert et al., 2000) and ad-mimicking tau phosphorylation in proline-rich motifs (eidenmuller et al., 2001) inhibit the association of tau with pp2a (figure 3b). |
| PubMedID- 23919677 | Frozen postmortem human frontal cortex (table 1) from control brain (n = 20) and pathologically confirmed cases of ad (n = 20), progressive supranuclear palsy (psp) (n = 5), corticobasal degeneration (cbd) (n = 5) and frontotemporal dementia with parkinsonism associated with tau mutations on chromosome 17 (ftd) (n = 4) were obtained from the mrc london brain bank for neurodegenerative diseases, kings college london, institute of psychiatry. |
| PubMedID- 23132096 | These mutations cause frontal temporal dementia (ftd) with parkinsonism linked to chromosome-17 (ftdp-17) . |
| PubMedID- 20664788 | The identification of dominant mutations in the gene encoding tau in hereditary tauopathies (frontotemporal dementia with parkinsonism linked to chromosome 17; ftdp-17) has established a causal relationship between tau and neurodegeneration. |
| PubMedID- 24252716 | This emphasises the need for systematic neuropathological evaluation in the clinical setting of rapidly progressive parkinsonism with dementia, even when supported by imaging findings, since dementia with lewy bodies may have a rapidly progressive form also. |
| PubMedID- 21380844 | Mutations in the tau gene, located on chromosome 17, are responsible for frontotemporal dementia with parkinsonism (ftdp-17) indicating that tau dysfunction is sufficient to cause neurodegeneration . |
| PubMedID- 25556159 | Familial mutations in tau, however, do exist in a subset of frontotemporal lobar degeneration (ftld) pathologies, called frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17). |
| PubMedID- 23393603 | In addition to hyperphosphorylation, there are also some tauopathies such as frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) in which tau’s missense mutation p301l is known as an “aggregation-prone mutation” , . |
| PubMedID- 23440936 | (a) neuropathological classification of ftld-tau and ftld-tdp subtypes (psp, progressive supranuclear palsy; cbd, corticobasal degeneration; pid, pick's disease; ftdp17, frontotemporal dementia with parkinsonism linked to chromosome 17; tauopathy nos, unclassifiable tauopathy; subtypes a–d, morphological subtypes of ftld-tdp; als-ftld, amyotrophic lateral sclerosis with ftld-tdp; ftld-fus, ftld with fused in sarcoma protein inclusions; ftld-ups, ftld with tau- and tdp-43-negative ubiquitinated inclusions; ftld-ni, ftld in the absence of significant neuropathological inclusions), (b) pathogenic mutation associations with underlying neuropathology (dashed-line separates less common molecular etiologies of ftld; mapt, tau resulting in ftdp-17; c90rf72, pathogenic hexanucleotide expansion resulting in ftld and/or als associated with ftld-tdp b; grn, progranulin resulting in ftld-tdp type a; tardp, tdp-43 resulting in als ± ftld and less commonly ftld; vcp, valosin-containing protein resulting in inclusion body myopathy with paget's disease of bone and frontotemporal dementia with ftld-tdp subtype d; fus, fused-in sarcoma protein resulting in ftld-fus; and chmp2b, charged mutlivesciular body protein 2b resulting in ftld-ups), (c) clinicopathological correlations of ftld (colored regions of clinical syndromes represent relative percentages of neuropathological subtypes found in autopsy studies; ad, alzheimer's disease; bvftd, behavioral variant of ftld; ppa, primary progressive aphasia; svppa, semantic variant ppa; nappa, nonfluent agrammatic variant ppa; lvppa, logopenic variant ppa; +als, co-morbid amyotrophic lateral sclerosis; +eps, co-morbid extra-pyramidal parkinsonian symptoms: i.e., features of akinetic-rigid syndromes of psp or corticobasal syndrome). |
| PubMedID- 21658235 | The identification of these mutations contributes to the contention as to whether the so-called lewy body disorders (parkinson's disease, parkinsonism with dementia, and dementia with lewy bodies) represent a continuum or have to be considered as distinct diseases . |
| PubMedID- 26419537 | Similarly, dopamine d2 receptor antagonists have been shown to ameliorate mutant tau-induced functional defects and reduce aggregation in a frontotemporal dementia with parkinsonism-17 (ftdp-17) tauopathy model . |
| PubMedID- 19967412 | Tau pathology is also observed in frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) and other related diseases, so called tauopathies. |
| PubMedID- 21629767 | Classical neuropathological studies characterized the intracellular accumulation and aggregation of abnormal filaments composed primarily of the microtubule associated protein tau as a hallmark for a variety of neurodegenerative disorders known as tauopathies, as exemplified by progressive supranuclear palsy, pick's disease, corticobasal degeneration, and frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17; lee et al., 2001). |
| PubMedID- 24064058 | Abnormal alternative splicing has been implicated in a number of human diseases, such as cancers (breast and lung cancers via the bcl-x gene) (26), neurodegenerative diseases (spinal muscular atrophy via smn splicing) (27), frontotemporal dementia with parkinsonism-17 (ftfp-17) via tau splicing(28), and other diseases (14). |
| PubMedID- 25980689 | The disruption of the balance between them results in hyperphosphorylation and aggregation of tau proteins into neurofibrillary tangles, causing the frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) . |
| PubMedID- 22366793 | Clinical diagnoses among examined subjects included behavioural variant frontotemporal dementia with or without parkinsonism (n = 30), amyotrophic lateral sclerosis (n = 18), frontotemporal dementia/amyotrophic lateral sclerosis with or without parkinsonism (n = 12), and other various syndromes (n = 3). |
| PubMedID- 22817642 | Familial frontotemporal dementia (ftd) with or without parkinsonism has been associated with mutations in genes encoding microtubule-associated protein tau (mapt), progranulin (pgrn), and less commonly valosin-containing protein (vcp), tar dna-binding protein (tardbp), and fused in sarcoma (fus), whereas familial amyotrophic lateral sclerosis (als) has been associated with mutations in genes encoding cu/zn superoxide dismutase-1 (sod1), tardbp, and fus . |
| PubMedID- 26064418 | Mutations in the atp13a2 gene (park9), encoding for a lysosomal type 5p-type atpase, cause a hereditary rare juvenile onset autosomal recessive parkinsonism with dementia named as kufor-rakeb syndrome. |