keyword
MENU ▼
Read by QxMD icon Read
search

FTD

keyword
https://www.readbyqxmd.com/read/28096243/fused-in-sarcoma-neuropathology-in-neurodegenerative-disease
#1
Ian R A Mackenzie, Manuela Neumann
Abnormal intracellular accumulation of the fused in sarcoma (FUS) protein is the characteristic pathological feature of cases of familial amyotrophic lateral sclerosis (ALS) caused by FUS mutations (ALS-FUS) and several uncommon disorders that may present with sporadic frontotemporal dementia (FTLD-FUS). Although these findings provide further support for the concept that ALS and FTD are closely related clinical syndromes with an overlapping molecular basis, important differences in the pathological features and results from experimental models indicate that ALS-FUS and FTLD-FUS have distinct pathogenic mechanisms...
January 17, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28093491/early-microgliosis-precedes-neuronal-loss-and-behavioural-impairment-in-mice-with-a-frontotemporal-dementia-causing-chmp2b-mutation
#2
Emma L Clayton, Renzo Mancuso, Troels Tolstrup Nielsen, Sarah Mizielinska, Holly Holmes, Nicholas Powell, Frances Norona, Jytte Overgaard Larsen, Carmelo Milioto, Katherine M Wilson, Mark F Lythgoe, Sebastian Ourselin, Jörgen E Nielsen, Peter Johannsen, Ida Holm, John Collinge, A Frej, Peter L Oliver, Diego Gomez-Nicola, Adrian M Isaacs
Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. We report that transgenic mice expressing endogenous levels of mutant CHMP2B developed late-onset brain volume loss associated with frank neuronal loss and FTD-like changes in social behaviour. These data are the first to show neurodegeneration in mice expressing mutant CHMP2B and indicate that our mouse model is able to recapitulate neurodegenerative changes observed in FTD. Neuroinflammation has been increasingly implicated in neurodegeneration, including FTD...
January 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28088537/mouse-models-of-frontotemporal-dementia-a-comparison-of-phenotypes-with-clinical-symptomatology
#3
REVIEW
Rebekah M Ahmed, Muireann Irish, Janet van Eersel, Arne Ittner, Yazi D Ke, Alexander Volkerling, Julia van der Hoven, Kimi Tanaka, Tim Karl, Michael Kassiou, Jillian J Kril, Olivier Piguet, Jürgen Götz, Matthew C Kiernan, Glenda M Halliday, John R Hodges, Lars M Ittner
Frontotemporal dementia (FTD) is the second most common cause of young onset dementia. It is increasingly recognized that there is a clinical continuum between FTD and amyotrophic lateral sclerosis (ALS). At a clinical, pathological and genetic level there is much heterogeneity in FTD, meaning that our understanding of this condition, pathophysiology and development of treatments has been limited. A number of mouse models focusing predominantly on recapitulating neuropathological and molecular changes of disease have been developed, with most transgenic lines expressing a single specific protein or genetic mutation...
January 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28087719/genetics-insight-into-the-amyotrophic-lateral-sclerosis-frontotemporal-dementia-spectrum
#4
REVIEW
Ai-Ling Ji, Xia Zhang, Wei-Wei Chen, Wen-Juan Huang
Recent genetic discoveries have dramatically changed our understanding of two major neurodegenerative conditions. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are common, devastating diseases of the brain. For decades, ALS and FTD were classified as movement and cognitive disorders, respectively, due to their distinct clinical phenotypes. The recent identification of chromosome 9 open reading frame 72 (C9orf72) as the major gene causative of familial forms of ALS and FTD uncovered a new reality of a continuous FTD/ALS spectrum...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28070894/a-phase-1-open-label-randomized-crossover-study-evaluating-the-bioavailability-of-tas-102-trifluridine-tipiracil-tablets-relative-to-an-oral-solution-containing-equivalent-amounts-of-trifluridine-and-tipiracil
#5
Carlos R Becerra, Kenichiro Yoshida, Hirokazu Mizuguchi, Manish Patel, Daniel Von Hoff
TAS-102 (trifluridine/tipiracil) is composed of an antineoplastic thymidine-based nucleoside analogue trifluridine (FTD), and a thymidine phosphorylase inhibitor, tipiracil (TPI), at a molar ratio of 1:0.5 (weight ratio, 1:0.471). A phase 1 study evaluated relative bioavailability of TAS-102 tablets compared with an oral solution containing equivalent amounts of FTD and TPI. In an open-label, 2-sequence, 3-period, crossover bioavailability study (part 1), patients 18 years or older with advanced solid tumors were randomized to receive TAS-102 tablets (60 mg; 3 × 20-mg tablets) on day 1 and TAS-102 oral solution (60 mg) on days 8 and 15, or the opposite sequence...
January 9, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28069809/the-receptor-interacting-serine-threonine-protein-kinase-1-ripk1-regulates-progranulin-levels
#6
Amanda R Mason, Lisa P Elia, Steven Finkbeiner
Progranulin (PGRN), a secreted growth factor, is a key regulator of inflammation and is genetically linked to two common and devastating neurodegenerative diseases. Haploinsufficiency mutations in GRN, the gene encoding PGRN, cause frontotemporal dementia (FTD) and a GRN SNP confers significantly increased risk for Alzheimer's disease (AD). Because cellular and animal data indicate that increasing PGRN can reverse phenotypes of both FTD and AD, modulating PGRN level has been proposed as a therapeutic strategy for both diseases...
January 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28069311/investigating-the-role-of-als-genes-chchd10-and-tuba4a-in-belgian-ftd-als-spectrum-patients
#7
Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p...
December 21, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28067298/widespread-temporo-occipital-lobe-dysfunction-in-amyotrophic-lateral-sclerosis
#8
Kristian Loewe, Judith Machts, Jörn Kaufmann, Susanne Petri, Hans-Jochen Heinze, Christian Borgelt, Joseph Allen Harris, Stefan Vielhaber, Mircea Ariel Schoenfeld
Recent studies suggest that amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) lie on a single clinical continuum. However, previous neuroimaging studies have found only limited involvement of temporal lobe regions in ALS. To better delineate possible temporal lobe involvement in ALS, the present study aimed to examine changes in functional connectivity across the whole brain, particularly with regard to extra-motor regions, in a group of 64 non-demented ALS patients and 38 healthy controls...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28054827/amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-revised-diagnostic-criteria
#9
Michael J Strong, Sharon Abrahams, Laura H Goldstein, Susan Woolley, Paula Mclaughlin, Julie Snowden, Eneida Mioshi, Angie Roberts-South, Michael Benatar, Tibor HortobáGyi, Jeffrey Rosenfeld, Vincenzo Silani, Paul G Ince, Martin R Turner
This article presents the revised consensus criteria for the diagnosis of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research workshop on frontotemporal dementia (FTD) and ALS held in London, Canada in June 2015. Since the publication of the Strong criteria, there have been considerable advances in the understanding of the neuropsychological profile of patients with ALS. Not only is the breadth and depth of neuropsychological findings broader than previously recognised - - including deficits in social cognition and language - but mixed deficits may also occur...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28029043/critical-conditions-for-liquid-chromatography-of-statistical-copolymers-functionality-type-and-composition-distribution-characterization-by-up-lccc-esi-ms
#10
Ruben Epping, Ulrich Panne, Jana Falkenhagen
Statistical ethylene oxide (EO) and propylene oxide (PO) copolymers of different monomer compositions and different average molar masses additionally containing to kinds of end groups (FTD) were investigated by Ultra High Pressure Liquid Chromatography under Critical Conditions (UP-LCCC) combined with Electrospray Ionization Time-of Flight Mass Spec-trometry (ESI-TOF-MS). Theoretical predictions of the existence of a Critical Adsorption Point (CPA) for statistical copoly-mers with a given chemical and sequence distribution1, could be studied and confirmed...
December 28, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/28019640/semantic-dementia-a-mini-review
#11
Blanka Klimova, Michal Novotny, Kamil Kuca
BACKGROUND: At present there are about 47.5 million people suffering from different types of dementia and by 2030 this number should reach 75.6 million. This obviously brings about serious social and economic burden for people suffering from any kind of dementia. OBJECTIVE: The purpose of this article is to explore only semantic dementia (SD) as one of the forms of frontotemporal dementia (FTD) and provide the latest information on its diagnosis and treatment which play a significant role in the maintenance of quality of life of both patients and their caregivers...
December 23, 2016: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28017247/clinical-characteristics-of-parkinsonism-in-frontotemporal-dementia-according-to-subtypes
#12
Hee Kyung Park, Kee Hyung Park, Bora Yoon, Jae-Hong Lee, Seong Hye Choi, Jee H Joung, Soo Jin Yoon, Byeong C Kim, Seung Hyun Kim, Eun-Joo Kim, Duk L Na, Kyung Won Park
BACKGROUND: We investigated the prevalence of parkinsonism in frontotemporal dementia (FTD) subtypes and the cognitive and behavioral differences between FTD with and without parkinsonism in a well-structured, prospective cohort. METHODS: One hundred and ninety-one FTD patients were enrolled and all patients underwent comprehensive neurological evaluations, neuropsychological tests, and the Unified Parkinson's Disease Rating Scale. RESULTS: The prevalence of parkinsonism was 38...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28012952/frontotemporal-dementia-as-the-presenting-phenotype-of-p-a53t-mutation-carriers-in-the-alpha-synuclein-gene
#13
Anastasia Bougea, Christos Koros, Maria Stamelou, Athina Simitsi, Nikolaos Papagiannakis, Roubina Antonelou, Dimitra Papadimitriou, Marianthi Breza, Konstantinos Tasios, Stella Fragkiadaki, Xenia Geronicola Trapali, Mara Bourbouli, Georgios Koutsis, Sokratis G Papageorgiou, Elisabeth Kapaki, George P Paraskevas, Leonidas Stefanis
INTRODUCTION: The p.A53T point mutation in SNCA, the alpha-synuclein gene, has been linked to a rare dominant form of Parkinson's disease (PD). METHODS: Here, we describe two apparently unrelated cases of p.A53T (G209A) SNCA mutation carriers with an atypical initial manifestation and disease course. Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p...
December 6, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28012640/white-matter-integrity-and-symptom-dimensions-of-schizophrenia-a-diffusion-tensor-imaging-study
#14
Miriam H A Bopp, Rebecca Zöllner, Andreas Jansen, Bruno Dietsche, Axel Krug, Tilo T J Kircher
Impaired fiber bundle connectivity between brain regions is a key neuropathological finding in schizophrenia. Symptom dimensions in schizophrenia can be clustered into factor models. Single syndromes have been related to grey and white matter brain structure alterations. We associated all core syndromes of schizophrenia in a single patient group with changes in white matter integrity. Diffusion weighted images (3T MRI) and SAPS/SANS scores were measured in 26 male patients and 26 healthy controls. First, group differences in fractional anisotropy (FA) were calculated with TBSS...
December 21, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/28009271/bidirectional-transcriptional-inhibition-as-therapy-for-als-ftd-caused-by-repeat-expansion-in-c9orf72
#15
Jie Jiang, Don W Cleveland
Hexanucleotide repeat expansion in the bi-directionally transcribed C9orf72 gene is the most frequent cause of familial ALS and frontotemporal dementia (FTD). Kramer et al. (2016) report in Science that targeted reduction in the transcription elongation factor SUPT4H1/SUPT5H reduces both sense and antisense repeat-containing RNAs and their associated neurodegeneration.
December 21, 2016: Neuron
https://www.readbyqxmd.com/read/28008748/tbk1-mutation-spectrum-in-an-extended-european-patient-cohort-with-frontotemporal-dementia-and-amyotrophic-lateral-sclerosis
#16
Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpi, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl-Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Ludger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramirez, Frank Jessen, Michael T Heneka, Estrella Gómez-Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, Marc Bruyland, Christiana Willems, Eric Salmon, Pau Pastor, Sara Ortega-Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Mercè Boada, Agustín Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sanchez-Valle, Albert Llado, Isabel Santana, Maria Rosário Almeida, Giovanni B Frisoni, Walter Maetzler, Radoslav Matej, Matthew J Fraidakis, Gabor G Kovacs, Gian Maria Fabrizi, Silvia Testi
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missense mutations was further explored in vivo on protein level and in vitro by an NFκB-induced luciferase reporter assay and measuring phosphorylated TBK1...
December 23, 2016: Human Mutation
https://www.readbyqxmd.com/read/28007900/extensive-cryptic-splicing-upon-loss-of-rbm17-and-tdp43-in-neurodegeneration-models
#17
Qiumin Tan, Hari Krishna Yalamanchili, Jeehye Park, Antonia De Maio, Hsiang-Chih Lu, Ying-Wooi Wan, Joshua J White, Vitaliy V Bondar, Layal S Sayegh, Xiuyun Liu, Yan Gao, Roy V Sillitoe, Harry T Orr, Zhandong Liu, Huda Y Zoghbi
Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs). RBP dysfunction and global splicing dysregulation have been implicated in many human diseases, but the in vivo functions of most RBPs and the splicing outcome upon their loss remain largely unexplored. Here we report that constitutive deletion of Rbm17, which encodes an RBP with a putative role in splicing, causes early embryonic lethality in mice and that its loss in Purkinje neurons leads to rapid degeneration...
October 7, 2016: Human Molecular Genetics
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
#18
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/28004582/weighted-protein-interaction-network-analysis-of-frontotemporal-dementia
#19
Raffaele Ferrari, Ruth C Lovering, John Hardy, Patrick A Lewis, Claudia Manzoni
The genetic analysis of complex disorders has undoubtedly led to the identification of a wealth of associations between genes and specific traits. However, moving from genetics to biochemistry one gene at a time has, to date, rather proved inefficient and under-powered to comprehensively explain the molecular basis of phenotypes. Here we present a novel approach - weighted protein-protein interaction network analysis (W-PPI-NA) - to highlight key functional players within relevant biological processes associated with a given trait...
December 22, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/28003435/genetic-compendium-of-1511-human-brains-available-through-the-uk-medical-research-council-brain-banks-network-resource
#20
Michael J Keogh, Wei Wei, Ian Wilson, Jon Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akanbi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368)...
January 2017: Genome Research
keyword
keyword
31390
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"