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frontotemporal lobar dementia

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https://www.readbyqxmd.com/read/28087828/tdp-43-pathology-and-memory-impairment-in-elders-without-pathologic-diagnoses-of-ad-or-ftld
#1
Sukriti Nag, Lei Yu, Robert S Wilson, Er-Yun Chen, David A Bennett, Julie A Schneider
OBJECTIVE: To investigate the association of TAR DNA-binding protein 43 (TDP-43) pathology with memory, other cognitive domains, and dementia in community-dwelling elders without pathologic diagnoses of Alzheimer disease (AD) or frontotemporal lobar degeneration (FTLD). METHODS: Of 1,058 autopsied participants, 343 (32.4%) did not have pathologic diagnoses of AD or FTLD. Diagnosis of dementia was based on clinical evaluation and cognitive performance tests, which were used to create summary measures of global cognition and of 5 cognitive domains...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28077166/threonine-175-a-novel-pathological-phosphorylation-site-on-tau-protein-linked-to-multiple-tauopathies
#2
Alexander J Moszczynski, Wencheng Yang, Robert Hammond, Lee Cyn Ang, Michael J Strong
Microtubule associated protein tau (tau) deposition is associated with a spectrum of neurodegenerative diseases collectively termed tauopathies. We have previously shown that amyotrophic lateral sclerosis (ALS) with cognitive impairment (ALSci) is associated with tau phosphorylation at Thr(175) and that this leads to activation of GSK3β which then induces phosphorylation at tau Thr(231). This latter step leads to dissociation of tau from microtubules and pathological tau fibril formation. To determine the extent to which this pathway is unique to ALS, we have investigated the expression of pThr(175) tau and pThr(231) tau across a range of frontotemporal degenerations...
January 11, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28062558/biological-spectrum-of-amyotrophic-lateral-sclerosis-prions
#3
Magdalini Polymenidou, Don W Cleveland
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD) are two neurodegenerative diseases with distinct clinical features but common genetic causes and neuropathological signatures. Ten years after the RNA-binding protein TDP-43 was discovered as the main protein in the cytoplasmic inclusions that characterize ALS and FTLD, their pathogenic mechanisms have never seemed more complex. Indeed, discoveries of the past decade have revolutionized our understanding of these diseases, highlighting their genetic heterogeneity and the involvement of protein-RNA assemblies in their pathogenesis...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28062555/antibody-therapeutics-targeting-a%C3%AE-and-tau
#4
Gilbert Gallardo, David M Holtzman
The astonishing findings that active and passive immunization against amyloid-β (Aβ) in mouse models of Alzheimer's disease (AD) dramatically decreased amyloid burden led to a rapid initiation of human clinical trials with much enthusiasm. However, methodological issues and adverse effects relating to these clinical trials arose, challenging the effectiveness and safety of these reagents. Efforts are now underway to develop safer immunotherapeutic approaches toward Aβ and the treatment of individuals at risk for AD before or in the earliest stages of cognitive decline with new hopes...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28005562/neuropsychological-testing-in-pathologically-verified-alzheimer-disease-and-frontotemporal-dementia-how-well-do-the-uniform-data-set-measures-differentiate-between-diseases
#5
Aaron R Ritter, Gabriel C Leger, Justin B Miller, Sarah J Banks
BACKGROUND/AIMS: Differences in cognition between frontotemporal dementia (FTD) and Alzheimer disease (AD) are well described in clinical cohorts, but have rarely been confirmed in studies with pathologic verification. For emerging therapeutics to succeed, determining underlying pathology early in the disease course is increasingly important. Neuropsychological evaluation is an important component of the diagnostic workup for AD and FTD. Patients with FTD are thought to have greater deficits in language and executive function while patients with AD are more likely to have deficits in memory...
December 21, 2016: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/27999880/-pathomechanisms-and-clinical-aspects-of-frontotemporal-lobar-degeneration
#6
REVIEW
K Bürger, T Arzberger, J Stephan, J Levin, D Edbauer
BACKGROUND: Frontotemporal lobar degeneration (FTLD) includes a spectrum of heterogeneous clinical and neuropathological diseases. In a strict sense this includes the behavioral variant of frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) and both variants can be associated with amyotrophic lateral sclerosis (FTD-ALS). In a broader sense FTLD also includes progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). In recent years the strong genetic component of FTLD has become increasingly clear...
December 20, 2016: Der Nervenarzt
https://www.readbyqxmd.com/read/27997711/alzheimer-neuropathology-without-frontotemporal-lobar-degeneration-hallmarks-tar-dna-binding-protein-43-inclusions-in-missense-progranulin-mutation-cys139arg
#7
Veronica Redaelli, Giacomina Rossi, Emanuela Maderna, Gabor G Kovacs, Elena Piccoli, Paola Caroppo, Francesca Cacciatore, Sonia Spinello, Marina Grisoli, Giuliano Sozzi, Andrea Salmaggi, Fabrizio Tagliavini, Giorgio Giaccone
Null mutations in progranulin gene (GRN) reduce the progranulin production resulting in haploinsufficiency and are tightly associated with tau-negative frontotemporal lobar degeneration with TAR DNA-binding protein 43-positive inclusions (FTLD-TDP). Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they elicit, also considering that their occurrence has been reported in patients with typical clinical features of Alzheimer disease...
December 20, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27929803/an-autopsy-verified-case-of-ftld-tdp-type-a-with-upper-motor-neuron-predominant-motor-neuron-disease-mimicking-mm2-thalamic-type-sporadic-creutzfeldt-jakob-disease
#8
Yuichi Hayashi, Yasushi Iwasaki, Akira Takekoshi, Nobuaki Yoshikura, Takahiko Asano, Maya Mimuro, Akio Kimura, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takashi Inuzuka
Here we report an autopsy-verified case of frontotemporal lobar degeneration (FTLD)-transactivation responsive region (TAR) DNA binding protein (TDP) type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD). A 69-year-old woman presented with an 11-month history of progressive dementia, irritability, insomnia, and gait disturbance without a family history of dementia or prion disease. Neurological examination revealed severe dementia, frontal signs, and exaggerated bilateral tendon reflexes...
November 2016: Prion
https://www.readbyqxmd.com/read/27915581/ftld-tdp-and-progressive-supranuclear-palsy-in-comorbidity-a-report-of-two-cases-with-different-clinical-presentations
#9
Kateřina Storey, Silvie Johanidesová, Radoslav Matěj, Jiří Keller, Zdeněk Rohan, Robert Rusina
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices...
December 3, 2016: Neurocase
https://www.readbyqxmd.com/read/27909398/an-amyloid-like-pathological-conformation-of-tdp-43-is-stabilized-by-hypercooperative-hydrogen-bonds
#10
Miguel Mompeán, Marco Baralle, Emanuele Buratti, Douglas V Laurents
TDP-43 is an essential RNA-binding protein forming aggregates in almost all cases of sporadic amyotrophic lateral sclerosis (ALS) and many cases of frontotemporal lobar dementia (FTLD) and other neurodegenerative diseases. TDP-43 consists of a folded N-terminal domain with a singular structure, two RRM RNA-binding domains, and a long disordered C-terminal region which plays roles in functional RNA regulatory assemblies as well as pernicious aggregation. Evidence from pathological mutations and seeding experiments strongly suggest that TDP-43 aggregates are pathologically relevant through toxic gain-of-harmful-function and/or harmful loss-of-native-function mechanisms...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27892698/the-relationship-between-oestrogen-and-executive-functioning-in-als-females-with-emerging-frontotemporal-lobar-degeneration-ftld-supports-a-neuroendocrine-model-of-ftld-attenuation
#11
C Flaherty, J Kraft, A Brothers, M Harrison, R S Legro, A Manni, C Yang, Z Simmons
OBJECTIVE: The prevalence of ALS cognitive or behavioural impairment (ci or bi) consistent with Frontotemporal Degeneration (FTLD) approachs 50%, while ∼5-10% progress to dementia. Our goal was to explore ci and bi differencs between bulbar and limb onset, as well as the neuroprotective potential of oestrogen in emerging FTLD. METHODS: We applied Mann Whitney U to evaluate differences in cognitive and behavioural profiles between site of onset in 78 female and 83 male non-demented ALS participants classified by current consensus criteria with ci...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27889911/multiregional-analysis-of-global-5-methylcytosine-and-5-hydroxymethylcytosine-throughout-the-progression-of-alzheimer-s-disease
#12
Elizabeth M Ellison, Erin L Abner, Mark A Lovell
Epigenetic modifications to cytosine are known to alter transcriptional states and deregulate gene expression in cancer, embryonic development, and most recently in neurodegeneration. To test the hypothesis that global levels of cytosine modification are altered throughout the progression of Alzheimer's disease, 5-methylcytosine (5-mC) and 5-hydroxmethylcytosine (5-hmC) were quantified using gas chromatography/mass spectrometry (GC/MS) and stable labeled internal standards of cytosine, 5-mC, and 5-hmC. Cytosine modifications were quantified in DNA extracted from tissue specimens of four brain regions (cerebellum, inferior parietal lobe, superior and middle temporal gyrus, and hippocampus/parahippocampal gyrus) of cognitively normal control (NC) subjects and subjects with mild cognitive impairment (MCI), preclinical Alzheimer's disease (PCAD), late onset Alzheimer's disease (LOAD), frontotemporal lobar degeneration (FTLD) and dementia with Lewy bodies (DLB)...
November 27, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27859539/clinicopathologic-heterogeneity-in-ftdp-17-due-to-mapt-p-p301l-mutation-including-a-patient-with-globular-glial-tauopathy
#13
Pawel Tacik, Monica Sanchez-Contreras, Michael DeTure, Melissa E Murray, Rosa Rademakers, Owen A Ross, Zbigniew K Wszolek, Joseph E Parisi, David S Knopman, Ronald C Petersen, Dennis W Dickson
AIM: The p.P301L mutation in microtubule-associated protein tau (MAPT) is a common cause of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). We compare clinicopathologic features of five unrelated and three related (brother, sister and cousin) patients with FTDP-17 due to p.P301L mutation. METHODS: Genealogical, clinical, neuropathologic, and genetic data were reviewed from eight individuals RESULTS: The series consisted of five men and three women with an average age of death of 58 years (52-65 years) and average disease duration of 9 years (3-14 years)...
November 8, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27844039/increased-prevalence-of-autoimmune-disease-within-c9-and-ftd-mnd-cohorts-completing-the-picture
#14
Zachary A Miller, Virginia E Sturm, Gamze Balci Camsari, Anna Karydas, Jennifer S Yokoyama, Lea T Grinberg, Adam L Boxer, Howard J Rosen, Katherine P Rankin, Maria Luisa Gorno-Tempini, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, William W Seeley, Neill R Graff-Radford, Bruce L Miller
OBJECTIVE: To determine the prevalence of autoimmune disease in symptomatic C9ORF72 (C9) mutation carriers and frontotemporal dementia with motor neuron disease (FTD/MND) cohorts. METHODS: In this case-control study, we reviewed the clinical histories of 66 patients with FTD/MND and 57 symptomatic C9 carriers (24 overlapping cases), a total of 99 charts, for history of autoimmune disease. The prevalence of autoimmune disease in C9 and FTD/MND cohorts was determined by χ(2) and Fisher exact comparisons between the combined C9 and FTD/MND group with normal control, Alzheimer disease, and progressive supranuclear palsy cohorts, as well as comparisons within C9 and FTD/MND cohorts...
December 2016: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27814992/a-cluster-of-progranulin-c157kfsx97-mutations-in-southern-italy-clinical-characterization-and-genetic-correlations
#15
Cinzia Coppola, Dario Saracino, Gianfranco Puoti, Giacomo Lus, Clemente Dato, Isabelle Le Ber, Jeremie Pariente, Paola Caroppo, Elena Piccoli, Fabrizio Tagliavini, Giuseppe Di Iorio, Giacomina Rossi
Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative diseases displaying high clinical, pathologic, and genetic heterogeneity. Several autosomal dominant progranulin (GRN) mutations have been reported, accounting for 5%-10% of FTLD cases worldwide. In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (CBS), carrying the GRN deletion g.101349_101355delCTGCTGT, resulting in the C157KfsX97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/27767988/a-novel-loss-of-function-grn-mutation-p-tyr229-%C3%A2-clinical-and-neuropathological-features
#16
Liina Kuuluvainen, Minna Pöyhönen, Petra Pasanen, Maija Siitonen, Jaana Rummukainen, Pentti J Tienari, Anders Paetau, Liisa Myllykangas
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. The nephew of the proband had signs of dementia and personality changes at the age of 60 and showed similar but milder FTLD pathology. Three other family members had had early-onset dementia...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27721502/calcium-dysregulation-contributes-to-neurodegeneration-in-ftld-patient-ipsc-derived-neurons
#17
Keiko Imamura, Naruhiko Sahara, Nicholas M Kanaan, Kayoko Tsukita, Takayuki Kondo, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada, Koichi Kawakami, Akitsu Hotta, Satoshi Yawata, Dai Watanabe, Masato Hasegawa, John Q Trojanowski, Virginia M-Y Lee, Tetsuya Suhara, Makoto Higuchi, Haruhisa Inoue
Mutations in the gene MAPT encoding tau, a microtubules-associated protein, cause a subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration tauopathy (FTLD-Tau), which presents with dementia and is characterized by atrophy in the frontal and temporal lobes of the brain. Although induced pluripotent stem cell (iPSC) technology has facilitated the investigation of phenotypes of FTLD-Tau patient neuronal cells in vitro, it remains unclear how FTLD-Tau patient neurons degenerate...
October 10, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27716675/tau-oligomers-associate-with-inflammation-in-the-brain-and-retina-of-tauopathy-mice-and-in-neurodegenerative-diseases
#18
Ashley N Nilson, Kelsey C English, Julia E Gerson, T Barton Whittle, C Nicolas Crain, Judy Xue, Urmi Sengupta, Diana L Castillo-Carranza, Wenbo Zhang, Praveena Gupta, Rakez Kayed
It is well-established that inflammation plays an important role in Alzheimer's disease (AD) and frontotemporal lobar dementia (FTLD). Inflammation and synapse loss occur in disease prior to the formation of larger aggregates, but the contribution of tau to inflammation has not yet been thoroughly investigated. Tau pathologically aggregates to form large fibrillar structures known as tangles. However, evidence suggests that smaller soluble aggregates, called oligomers, are the most toxic species and form prior to tangles...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27716663/cerebrospinal-fluid-biomarkers-for-the-differential-diagnosis-between-alzheimer-s-disease-and-frontotemporal-lobar-degeneration-systematic-review-hsroc-analysis-and-confounding-factors
#19
Amado Rivero-Santana, Daniel Ferreira, Lilisbeth Perestelo-Pérez, Eric Westman, Lars-Olof Wahlund, Antonio Sarría, Pedro Serrano-Aguilar
BACKGROUND: Differential diagnosis in dementia is at present one of the main challenges both in clinical practice and research. Cerebrospinal fluid (CSF) biomarkers are included in the current diagnostic criteria of Alzheimer's disease (AD) but their clinical utility is still unclear. OBJECTIVE: We performed a systematic review of studies analyzing the diagnostic performance of CSF Aβ42, total tau (t-tau), and phosphorylated tau (p-tau) in the discrimination between AD and frontotemporal lobar degeneration (FTLD) dementias...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27688599/cognitive-impairment-involving-social-cognition-in-spg4-hereditary-spastic-paraplegia
#20
Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin
Objectives. To describe cognitive assessment including social cognition in SPG4 patients. Methods. We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. Results. None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile...
2016: Behavioural Neurology
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