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Frontotemporal degeneration

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https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#1
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29322490/the-rs75932628-and-rs2234253-polymorphisms-of-the-trem2-gene-were-associated-with-susceptibility-to-frontotemporal-lobar-degeneration-in-caucasian-populations
#2
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in FTLD risks via a meta-analysis. We included a total of eight eligible articles. For TREM2 rs75932628, we observed a significantly increased FTLD risk in the models of T vs. C [Association Test, odds ratio (OR) = 2...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29315334/immune-related-genetic-enrichment-in-frontotemporal-dementia-an-analysis-of-genome-wide-association-studies
#3
Iris Broce, Celeste M Karch, Natalie Wen, Chun C Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A Ross, Günter U Höglinger, Ulrich Muller, John Hardy, Parastoo Momeni, Christopher P Hess, William P Dillon, Zachary A Miller, Luke W Bonham, Gil D Rabinovici, Howard J Rosen, Gerard D Schellenberg, Andre Franke, Tom H Karlsen, Jan H Veldink, Raffaele Ferrari, Jennifer S Yokoyama, Bruce L Miller, Ole A Andreassen, Anders M Dale, Rahul S Desikan, Leo P Sugrue
BACKGROUND: Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. METHODS AND FINDINGS: Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis...
January 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29284821/the-tale-of-the-storyteller-and-the-painter-the-paradoxes-in-nature
#4
Sadanandavalli Retnaswami Chandra, Lakshminarayanapuram Gopal Viswanathan, Rahul Wahatule, Safal Shetty
Introduction: Brain as the seat of behavior is acknowledged from the times of Charaka, however where neurology ends and philosophy begins remains an enigma. It is certainly every neurologist's observation that there is loss of function either region based or domain based in progressive diseases of the nervous system making it the seat of all useful activities. However, there are references to occurrence of new skills seen during various illnesses causing progressive cognitive dysfunction...
November 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29282407/dementia-and-hospital-readmission-rates-a-systematic-review
#5
REVIEW
Sabrina Pickens, Aanand D Naik, Angela Catic, Mark E Kunik
Background: Although community-dwelling persons with dementia have an increased risk of hospital readmission, no systematic review has examined the contribution of dementia to readmissions. Summary: We examined articles in English, with no restrictions on publication dates, from Medline, PubMed, PsycINFO, CINAHL, and EMBASE. Keywords used were dementia, Alzheimer disease, frontotemporal lobar degeneration, elderly, frontotemporal dementia, executive function, brain atrophy, frontal lobe atrophy, cognitive impairment, readmission, readmit, rehospitalization, patient discharge, and return visit...
September 2017: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/29282338/unaffected-mosaic-c9orf72-case-rna-foci-dipeptide-proteins-but-upregulated-c9orf72-expression
#6
Philip McGoldrick, Ming Zhang, Marka van Blitterswijk, Christine Sato, Danielle Moreno, Shangxi Xiao, Ashley B Zhang, Paul M McKeever, Anna Weichert, Raphael Schneider, Julia Keith, Leonard Petrucelli, Rosa Rademakers, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva
OBJECTIVE: Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small expansions (e.g., 30-90 repeats) is unknown and was investigated here. METHODS: We conducted a molecular and pathology study of a family in which the father (unaffected at age 90) carried a 70-repeat allele in blood DNA that expanded to ≈1,750 repeats in his children, causing ALS...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29282277/mitotic-defects-lead-to-neuronal-aneuploidy-and-apoptosis-in-frontotemporal-lobar-degeneration-caused-by-mapt-mutations
#7
Julbert Caneus, Antoneta Granic, Rosa Rademakers, Dennis W Dickson, Christina M Coughlan, Heidi J Chial, Huntington Potter
Mutant Tau (MAPT) can lead to frontotemporal lobar degeneration (FTLD). Previous studies associated MAPT mutations and altered function with aneuploidy and chromosome instability in human lymphocytes and in Drosophila development. Here, we examine whether FTLD-causing mutations in human MAPT induce aneuploidy and apoptosis in the mammalian brain. First, aneuploidy was found in brain cells from MAPT mutant transgenic mice expressing FTLD mutant human MAPT. Then, brain neurons from mice homozygous or heterozygous for the Tau (Mapt) null allele were found to exhibit increasing levels of aneuploidy with decreasing Tau gene dosage...
December 27, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29276758/role-of-tau-acetylation-in-alzheimer-s-disease-and-chronic-traumatic-encephalopathy-the-way-forward-for-successful-treatment
#8
Brandon Lucke-Wold, Kay Seidel, Rub Udo, Bennet Omalu, Mark Ornstein, Richard Nolan, Charles Rosen, Joel Ross
Progressive neurodegenerative diseases plague millions of individuals both in the United States and across the world. The current pathology of progressive neurodegenerative tauopathies, such as Alzheimer's disease (AD), Pick's disease, frontotemporal dementia (FTD), and progressive supranuclear palsy, primarily revolves around phosphorylation and hyperphosphorylation of the tau protein. However, more recent evidence suggests acetylation of tau protein at lysine 280 may be a critical step in molecular pathology of these neurodegenerative diseases prior to the tau hyperphosphorylation...
2017: Journal of Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29240340/update-on-current-care-guideline-memory-disorders
#9
(no author information available yet)
Any complaint about memory should be examined. Diagnosis is based on international criteria. Basic evaluation consists of medical history, clinical evaluation, cognitive tests and brain imaging. When a diagnosis of Alzheimer's disease (AD), AD with cerebrovascular disease or with Lewy Body disease (LBD), or Dementia associated with Parkinson's disease or LBD is made, evidence-based medical therapy (acetylcholine esterase inhibitor or memantine) is indicated as a part of comprehensive care. In frontotemporal degenerations, these drugs are ineffective...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29232559/cilostazol-a-phosphodiesterase-3-inhibitor-activates-proteasome-proteolysis-and-attenuates-tauopathy-and-cognitive-decline
#10
Ari W Schaler, Natura Myeku
Alzheimer's disease and several variants of frontotemporal degeneration including progressive supranuclear palsy and corticobasal degeneration are characterized by the accumulation of abnormal tau protein into aggregates. Most proteins, including tau, are degraded via the ubiquitin proteasome system, but when abnormal tau accumulates, the function of 26S proteasomes is downregulated. The negative effect of tau aggregates on the function of the proteasome can have deleterious consequences on protein homeostasis and disease progression...
November 23, 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/29228211/asymmetry-of-post-mortem-neuropathology-in-behavioural-variant-frontotemporal-dementia
#11
David J Irwin, Corey T McMillan, Sharon X Xie, Katya Rascovsky, Vivianna M Van Deerlin, H Branch Coslett, Roy Hamilton, Geoffrey Aguirre, Edward B Lee, Virginia M Y Lee, John Q Trojanowski, Murray Grossman
Antemortem behavioural and anatomic abnormalities have largely been associated with right hemisphere disease in behavioural-variant frontotemporal dementia, but post-mortem neuropathological examination of bilateral hemispheres remains to be defined. Here we measured the severity of post-mortem pathology in both grey and white matter using a validated digital image analysis method in four cortical regions sampled from each hemisphere in 26 patients with behavioural-variant frontotemporal dementia, including those with frontotemporal degeneration (i...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29226876/serum-c-peptide-visfatin-resistin-and-ghrelin-are-altered-in-sporadic-and-grn-associated-frontotemporal-lobar-degeneration
#12
Roberta Zanardini, Luisa Benussi, Silvia Fostinelli, Claudia Saraceno, Miriam Ciani, Barbara Borroni, Alessandro Padovani, Giuliano Binetti, Roberta Ghidoni
Frontotemporal lobar degeneration (FTLD) is a group of complex neurodegenerative disease characterized by progressive deterioration of the frontal and anterior temporal lobes of the brain resulting in different heterogeneous conditions, mainly characterized by personality changes, behavioral disturbances, such as binge eating, and deficits in language and executive functions. Null mutations in progranulin gene (GRN) are one of the most frequent genetic determinants in familial frontotemporal dementia. Recently, progranulin was recognized as an adipokine involved in diet-induced obesity and insulin resistance revealing its metabolic function...
December 1, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29226869/the-heritability-of-frontotemporal-lobar-degeneration-validation-of-pedigree-classification-criteria-in-a-northern-italy-cohort
#13
Silvia Fostinelli, Miriam Ciani, Roberta Zanardini, Orazio Zanetti, Giuliano Binetti, Roberta Ghidoni, Luisa Benussi
A large portion of frontotemporal lobar degeneration (FTLD) patients has a family history of disease and the presence of a pathogenic mutation confirms the clinical diagnosis. Recently, standardized criteria to evaluate FTLD pedigree, based on first- and second-degree affected relatives, their age at onset, and clinical phenotype, were proposed and validated in an American cohort. Herein we applied these criteria to 402 Italian FTLD pedigrees and assessed mutation frequencies in GRN, C9orf72, and MAPT genes with the aim of validating these criteria...
December 8, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29223171/caregiver-burden-sleep-quality-depression-and-anxiety-in-dementia-caregivers-a-comparison-of-frontotemporal-lobar-degeneration-dementia-with-lewy-bodies-and-alzheimer-s-disease
#14
Shuai Liu, Jing Liu, Xiao-Dan Wang, Zhihong Shi, Yuying Zhou, Jing Li, Tao Yu, Yong Ji
BACKGROUND: Very few recent studies are available that compare caregiver burden, sleep quality, and stress in caregivers of different types of dementia. We aimed to investigate caregiver burden, sleep quality, and stress in caregivers of patients with frontotemporal lobar degeneration and dementia with Lewy bodies, as compared with caregivers of patients with Alzheimer's disease. METHODS: This study was carried out from March 2011 to January 2014. In total, 492 dyads of patient and caregiver (frontotemporal lobar degeneration, n = 131; dementia with Lewy bodies, n = 36; Alzheimer's disease, n = 325) participated in this study...
December 10, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/29216908/clinical-and-neuropathological-features-of-als-ftd-with-tia1-mutations
#15
Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M Nicholson, Matt Baker, Ging-Yuek R Hsiung, Charles Krieger, Pheth Sengdy, Kevin B Boylan, Dennis W Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A Zivkovic, David Lacomis, J Paul Taylor, Rosa Rademakers, Ian R A Mackenzie
Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf72 (C9orf72+). All nine patients with confirmed mutations in TIA1 were female. The clinical phenotype was heterogeneous with a range in the age at onset from late twenties to the eighth decade (mean = 60 years) and disease duration from one to 6 years (mean = 3 years)...
December 7, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29215728/multiple-neuronal-pathologies-are-common-in-young-patients-with-pathologically-proven-frontotemporal-lobar-degeneration
#16
Rachel H Tan, Yue Yang, Glenda M Halliday
AIMS: The past decade has seen a surge in studies identifying mixed pathologies in elderly populations. Importantly however, few studies have focussed on mixed pathology in Frontotemporal Lobar Degeneration (FTLD), particularly in younger cases. METHODS: The present study study examined concomitant pathological neuronal inclusions of TDP-43, hyperphosphorylated tau and α-synuclein protein in the anterior cingulate, hippocampus and entorhinal cortex in young (≤65 years at death) versus elderly (≥80 years at death) cases with pathologically-confirmed FTLD (n=52) or Alzheimer's disease (AD) (n=47)...
December 7, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29213521/distinct-phospho-tdp-43-brain-distribution-in-two-cases-of-ftd-one-associated-with-als
#17
Álvaro C B Guedes, Ricardo Santin, André S R Costa, Keli C Reiter, Arlete Hilbig, Liana L Fernandez
INTRODUCTION: TDP-43 is an intranuclear protein involved in many cellular processes. When altered, it shows a change in pattern of distribution, as well as in functioning, throughout the Central Nervous System structures. Frontotemporal Lobar Degeneration (FTLD) and Amyotrophic Lateral Sclerosis (ALS) are examples of TDP-43 proteinopathy. These disorders form a clinical spectrum, with some patients having a pure cognitive disorder while others also exhibit motor features. METHODS: We studied two donated brains from patients with a diagnosis of Frontotemporal Dementia (FTD), one of which was associated with ALS (ALS-FTD)...
July 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29206491/new-advances-in-tau-imaging-in-parkinsonism
#18
Mikaeel Valli, Antonio P Strafella
Currently, the differential diagnosis between atypical parkinsonisms and classical idiopathic Parkinson's disease can be quite difficult because of the significant overlap of clinical presentation and symptoms. Neurodegenerative conditions, including progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia (FTD), are primarily characterized by accumulation of tau protein in the brain. Recent imaging developments for tau pathology may provide a promising tool for the assessment of diagnosis, prognosis, and progression of these neurodegenerative disorders...
December 5, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/29197216/early-cognitive-structural-and-microstructural-changes-in-presymptomatic-c9orf72-carriers-younger-than-40-years
#19
Anne Bertrand, Junhao Wen, Daisy Rinaldi, Marion Houot, Sabrina Sayah, Agnès Camuzat, Clémence Fournier, Sabrina Fontanella, Alexandre Routier, Philippe Couratier, Florence Pasquier, Marie-Odile Habert, Didier Hannequin, Olivier Martinaud, Paola Caroppo, Richard Levy, Bruno Dubois, Alexis Brice, Stanley Durrleman, Olivier Colliot, Isabelle Le Ber
Importance: Presymptomatic carriers of chromosome 9 open reading frame 72 (C9orf72) mutation, the most frequent genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis, represent the optimal target population for the development of disease-modifying drugs. Preclinical biomarkers are needed to monitor the effect of therapeutic interventions in this population. Objectives: To assess the occurrence of cognitive, structural, and microstructural changes in presymptomatic C9orf72 carriers...
December 2, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29194538/mitochondrial-abnormalities-and-disruption-of-the-neuromuscular-junction-precede-the-clinical-phenotype-and-motor-neuron-loss-in-hfuswt-transgenic-mice
#20
Eva So, Jacqueline C Mitchell, Caroline Memmi, George Chennell, Gema Vizcay-Barrena, Leanne Allison, Christopher E Shaw, Caroline Vance
FUS mislocalisation and cytoplasmic aggregation are hallmark pathologies in FUS-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Many of the mechanistic hypotheses have focused on a loss of nuclear function in the FUS-opathies, implicating dysregulated RNA transcription and splicing in driving neurodegeneration. Recent studies describe an additional somato-dendritic localisation for FUS in the cerebral cortex implying a regulatory role in mRNA transport and local translation at the synapse...
November 28, 2017: Human Molecular Genetics
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