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https://www.readbyqxmd.com/read/29153328/tdp-43-promotes-neurodegeneration-by-impairing-chromatin-remodeling
#1
Amit Berson, Ashley Sartoris, Raffaella Nativio, Vivianna Van Deerlin, Jon B Toledo, Sílvia Porta, Shichong Liu, Chia-Yu Chung, Benjamin A Garcia, Virginia M-Y Lee, John Q Trojanowski, F Brad Johnson, Shelley L Berger, Nancy M Bonini
Regulation of chromatin structure is critical for brain development and function. However, the involvement of chromatin dynamics in neurodegeneration is less well understood. Here we find, launching from Drosophila models of amyotrophic lateral sclerosis and frontotemporal dementia, that TDP-43 impairs the induction of multiple key stress genes required to protect from disease by reducing the recruitment of the chromatin remodeler Chd1 to chromatin. Chd1 depletion robustly enhances TDP-43-mediated neurodegeneration and promotes the formation of stress granules...
November 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29146050/progranulin-plasma-levels-predict-the-presence-of-grn-mutations-in-asymptomatic-subjects-and-do-not-correlate-with-brain-atrophy-results-from-the-genfi-study
#2
Daniela Galimberti, Giorgio G Fumagalli, Chiara Fenoglio, Sara M G Cioffi, Andrea Arighi, Maria Serpente, Barbara Borroni, Alessandro Padovani, Fabrizio Tagliavini, Mario Masellis, Maria Carmela Tartaglia, John van Swieten, Lieke Meeter, Caroline Graff, Alexandre de Mendonça, Martina Bocchetta, Jonathan D Rohrer, Elio Scarpini
We investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (GRN) null mutations or of the development of symptoms in asymptomatic at risk members participating in the Genetic Frontotemporal Dementia Initiative, including 19 patients, 64 asymptomatic carriers, and 77 noncarriers. In addition, we evaluated a possible role of TMEM106B rs1990622 as a genetic modifier and correlated progranulin plasma levels and gray-matter atrophy. Plasma progranulin mean ± SD plasma levels in patients and asymptomatic carriers were significantly decreased compared with noncarriers (30...
November 13, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29146049/common-and-rare-tbk1-variants-in-early-onset-alzheimer-disease-in-a-european-cohort
#3
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, Tobi Van den Bossche, Lubina Dillen, Bavo Heeman, Estrella Gómez-Tortosa, Albert Lladó, Raquel Sanchez-Valle, Caroline Graff, Pau Pastor, Maria A Pastor, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Jordi Clarimon, Alexandre de Mendonça, Ellen Gelpi, Magda Tsolaki, Janine Diehl-Schmid, Benedetta Nacmias, Maria Rosário Almeida, Barbara Borroni, Radoslav Matej, Agustín Ruiz, Sebastiaan Engelborghs, Rik Vandenberghe, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven, Kristel Sleegers
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls...
October 25, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29145658/characterization-of-detergent-insoluble-proteome-in-chronic-traumatic-encephalopathy
#4
Jonathan D Cherry, Ahmad Zeineddin, Eric B Dammer, James A Webster, Duc Duong, Nicholas T Seyfried, Allan I Levey, Victor E Alvarez, Bertrand R Huber, Thor D Stein, Patrick T Kiernan, Ann C McKee, James J Lah, Chadwick M Hales
Quantitative proteomics of postmortem human brain can identify dysfunctional proteins that contribute to neurodegenerative disorders like Alzheimer disease (AD) and frontotemporal dementia. Similar studies in chronic traumatic encephalopathy (CTE) are limited, therefore we hypothesized that proteomic sequencing of CTE frontal cortex brain homogenates from varying CTE pathologic stages may provide important new insights into this disorder. Quantitative proteomics of control, CTE and AD brains was performed to characterize differentially expressed proteins, and we identified over 4000 proteins in CTE brains, including significant enrichment of the microtubule associated protein tau...
November 14, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29143870/head-to-head-comparison-of-18-f-av-1451-and-18-f-thk5351-for-tau-imaging-in-alzheimer-s-disease-and-frontotemporal-dementia
#5
Young Kyoung Jang, Chul Hyoung Lyoo, Seongbeom Park, Seung Jun Oh, Hanna Cho, Minyoung Oh, Young Hoon Ryu, Jae Yong Choi, Gil D Rabinovici, Hee Jin Kim, Seung Hwan Moon, Hyemin Jang, Jin San Lee, William J Jagust, Duk L Na, Jae Seung Kim, Sang Won Seo
PURPOSE: Tau accumulation is a core pathologic change in various neurodegenerative diseases including Alzheimer's disease and frontotemporal lobar degeneration-tau. Recently, tau positron emission tomography tracers such as [(18)F] AV-1451 and [(18)F] THK5351 have been developed to detect tau deposition in vivo. In the present study, we performed a head to head comparison of these two tracers in Alzheimer's disease and frontotemporal dementia cases and aimed to investigate which tracers are better suited to image tau in these disorders...
November 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29142232/tdp-43-misexpression-causes-defects-in-dendritic-growth
#6
Josiah J Herzog, Mugdha Deshpande, Leah Shapiro, Avital A Rodal, Suzanne Paradis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) share overlapping genetic causes and disease symptoms, and are linked neuropathologically by the RNA binding protein TDP-43 (TAR DNA binding protein-43 kDa). TDP-43 regulates RNA metabolism, trafficking, and localization of thousands of target genes. However, the cellular and molecular mechanisms by which dysfunction of TDP-43 contributes to disease pathogenesis and progression remain unclear. Severe changes in the structure of neuronal dendritic arbors disrupt proper circuit connectivity, which in turn could contribute to neurodegenerative disease...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138281/a-conserved-cytoskeletal-signaling-cascade-mediates-neurotoxicity-of-ftdp-17-tau-mutations-in-vivo
#7
Farah H Bardai, Liqun Wang, Yamini Mutreja, Mythili Yenjerla, T Chris Gamblin, Mel B Feany
The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau. In vitro, FTDP-17 mutant versions of tau can reduce microtubule binding and increase aggregation of tau, but the mechanism by which these mutations promote disease in vivo is not clear. Here we take a combined biochemical and in vivo modeling approach to define functional properties of tau driving neurotoxicity in vivo We express wild type human tau and five FTDP-17 mutant forms of tau in Drosophila using a site-directed insertion strategy to ensure equivalent levels of expression...
November 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29137817/beyond-als-and-ftd-the-phenotypic-spectrum-of-tbk1-mutations-includes-psp-like-and-cerebellar-phenotypes
#8
Carlo Wilke, Jonathan Baets, Jan L De Bleecker, Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe, Matthis Synofzik
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive supranuclear palsy-like syndrome. Consecutively, we screened the whole-exome sequencing data of 439 index subjects presenting with various neurodegenerative syndromes outside the ALS-FTD spectrum for TBK1 mutations...
October 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29134465/current-role-for-biomarkers-in-clinical-diagnosis-of-alzheimer-disease-and-frontotemporal-dementia
#9
REVIEW
Nasim Sheikh-Bahaei, Seyed Ahmad Sajjadi, Aimee L Pierce
Purpose of review Alzheimer's disease (AD) and frontotemporal dementia can often be diagnosed accurately with careful clinical history, cognitive testing, neurological examination, and structural brain MRI. However, there are certain circumstances wherein detection of specific biomarkers of neurodegeneration or underlying AD pathology will impact the clinical diagnosis or treatment plan. We will review the currently available biomarkers for AD and frontotemporal dementia (FTD) and discuss their clinical importance...
November 14, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#10
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
September 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#11
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29127544/a-brazilian-family-with-inclusion-body-myopathy-associated-with-paget-s-disease-of-bone-and-frontotemporal-dementia-linked-to-the-vcp-pgly97glu-mutation
#12
REVIEW
Samuel Katsuyuki Shinjo, Sueli Mieko Oba-Shinjo, Antonio Marcondes Lerario, Suely Kazue Nagahashi Marie
The objective of this study is to report a Brazilian patient and his family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). A systematic review of the literature on the valosin-containing protein (VCP) mutation was also performed. The proband (patient) was initially treated as a case of possible refractory polymyositis with Paget's disease and later as an inclusion body myopathy. However, after admission to our service, and considering his personal and familial antecedents, whole exome sequencing was performed revealing valosin-containing protein (VCP) c...
November 10, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29122458/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-integrating-the-literature-on-hereditary-diffuse-leukoencephalopathy-with-spheroids-hdls-and-pigmentary-orthochromatic-leukodystrophy-pold
#13
REVIEW
Scott J Adams, Andrew Kirk, Roland N Auer
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity...
November 6, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29121998/circulating-brain-enriched-micrornas-as-novel-biomarkers-for-detection-and-differentiation-of-neurodegenerative-diseases
#14
Kira S Sheinerman, Jon B Toledo, Vladimir G Tsivinsky, David Irwin, Murray Grossman, Daniel Weintraub, Howard I Hurtig, Alice Chen-Plotkin, David A Wolk, Leo F McCluskey, Lauren B Elman, John Q Trojanowski, Samuil R Umansky
BACKGROUND: Minimally invasive specific biomarkers of neurodegenerative diseases (NDs) would facilitate patient selection and disease progression monitoring. We describe the assessment of circulating brain-enriched microRNAs as potential biomarkers for Alzheimer's disease (AD), frontotemporal dementia (FTD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS). METHODS: In this case-control study, the plasma samples were collected from 250 research participants with a clinical diagnosis of AD, FTD, PD, and ALS, as well as from age- and sex-matched control subjects (n = 50 for each group), recruited from 2003 to 2015 at the University of Pennsylvania Health System, including the Alzheimer's Disease Center, the Parkinson's Disease and Movement Disorders Center, the Frontotemporal Degeneration Center, and the Amyotrophic Lateral Sclerosis Clinic...
November 9, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29121267/loss-of-chchd10-chchd2-complexes-required-for-respiration-underlies-the-pathogenicity-of-a-chchd10-mutation-in-als
#15
Isabella R Straub, Alexander Janer, Woranontee Weraarpachai, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva, Eric A Shoubridge
CHCHD10 and its paralogue CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the intermembrane space of mitochondria. Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD), and mutations in CHCHD2 have been associated with Parkinson's disease, but the function of these proteins remains unknown. Here we show that the p.R15L CHCHD10 variant in ALS patient fibroblasts destabilizes the protein, leading to a defect in the assembly of complex I, impaired cellular respiration, mitochondrial hyperfusion, an increase in the steady-state level of CHCHD2, and a severe proliferation defect on galactose, a substrate that forces cells to synthesize virtually all of their ATP aerobically...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29120538/-frontotemporal-dementia-an-update
#16
Cecilia Ferrer Soler, Vagia Giatrakou, Sonia Papa, Max Scheffler, Giovanni B Frisoni
Frontotemporal dementia is a health issue that encompasses different specialties. This type of dementia is underdiagnosed and usually confused initially with psychiatric pathologies. Its clinical aspect as well as its evolution is a challenge for the physician on a daily basis due to the heterogeneity of the various forms. The diagnosis is usually uncertain and the current treatment can only treat the symptoms. The care of the patient and his entourage must be done in a multidisciplinary way. The advancement of research in its later years has brought to light genetic mutations that have led to a better understanding of pathology and pathophysiology...
November 8, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29118263/rna-binding-proteins-and-the-pathological-cascade-in-als-ftd-neurodegeneration
#17
REVIEW
Daisuke Ito, Mami Hatano, Norihiro Suzuki
Advanced genetic approaches have accelerated the identification of causative genes linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the disease-related proteins encoded by these genes form aggregates in the cellular machineries that regulate RNA and protein quality control in cells. Cross-talk among the signaling pathways governing these machineries leads to pathological cascades mediated by the accumulation of mutant RNA binding proteins...
November 8, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29117955/alzheimer-s-disease-related-dementias-summit-2016-national-research-priorities
#18
REVIEW
Roderick A Corriveau, Walter J Koroshetz, Jordan T Gladman, Sophia Jeon, Debra Babcock, David A Bennett, S Thomas Carmichael, Susan L-J Dickinson, Dennis W Dickson, Marian Emr, Howard Fillit, Steven M Greenberg, Michael L Hutton, David S Knopman, Jennifer J Manly, Karen S Marder, Claudia S Moy, Creighton H Phelps, Paul A Scott, William W Seeley, Beth-Anne Sieber, Nina B Silverberg, Margaret L Sutherland, Angela Taylor, Christine L Torborg, Salina P Waddy, Amelie K Gubitz, David M Holtzman
Goal 1 of the National Plan to Address Alzheimer's Disease is to prevent and effectively treat Alzheimer disease and Alzheimer disease-related dementias by 2025. To help inform the research agenda toward achieving this goal, the NIH hosts periodic summits that set and refine relevant research priorities for the subsequent 5 to 10 years. This proceedings article summarizes the 2016 Alzheimer's Disease-Related Dementias Summit, including discussion of scientific progress, challenges, and opportunities in major areas of dementia research, including mixed-etiology dementias, Lewy body dementia, frontotemporal degeneration, vascular contributions to cognitive impairment and dementia, dementia disparities, and dementia nomenclature...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29117794/cognitive-telerehabilitation-in-mild-cognitive-impairment-alzheimer-s-disease-and-frontotemporal-dementia-a-systematic-review
#19
Maria Cotelli, Rosa Manenti, Michela Brambilla, Elena Gobbi, Clarissa Ferrari, Giuliano Binetti, Stefano F Cappa
Introduction Given the limited effectiveness of pharmacological treatments, non-pharmacological interventions in neurodegenerative diseases have gained increasing attention in recent years and telerehabilitation has been proposed as a cognitive rehabilitation strategy. The purpose of this systematic review is to examine the evidence for the efficacy of cognitive telerehabilitation interventions compared with face-to-face rehabilitation in patients with mild cognitive impairment, Alzheimer's disease and frontotemporal dementia...
January 1, 2017: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/29113975/g-quadruplex-binding-small-molecules-ameliorate-c9orf72-ftd-als-pathology-in%C3%A2-vitro-and-in%C3%A2-vivo
#20
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert-Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie-Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repeat expansions have been proposed to cause disease by both the repeat RNA forming foci that sequester RNA-binding proteins and through toxic dipeptide repeat proteins generated by repeat-associated non-ATG translation. GGGGCC repeat RNA folds into a G-quadruplex secondary structure, and we investigated whether targeting this structure is a potential therapeutic strategy...
November 7, 2017: EMBO Molecular Medicine
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