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Dementia frontotemporal

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https://www.readbyqxmd.com/read/29792928/translation-of-dipeptide-repeat-proteins-from-the-c9orf72-expanded-repeat-is-associated-with-cellular-stress
#1
Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P Roos
Expansion of a hexanucleotide repeat (HRE), GGGGCC, in the C9ORF72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (FALS), frontotemporal dementia (FTD) and ALS-FTD, as well as 5-10% of sporadic ALS. Despite the location of the HRE in the non-coding region (with respect to the main C9ORF72 gene product), dipeptide repeat proteins (DPRs) that are thought to be toxic are translated from the HRE in all three reading frames from both the sense and antisense transcript. Here, we identified a CUG translation initiation codon that has a good Kozak consensus sequence as the translation initiation codon...
May 21, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29790571/-epidemiology-of-alzheimer-s-disease-and-other-dementias
#2
REVIEW
J Garre-Olmo
INTRODUCTION: Dementia is a clinical syndrome resulting from a number of causations and which is usually accompanied by progressive and diffuse brain dysfunction. The different subtypes are characterised by a clinical picture with common symptoms that differ in terms of their aetiology, age, clinical presentation, clinical course and associated disorders. AIM: To present an update on the information available about the descriptive epidemiology of dementia and its main subtypes...
June 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29790176/tau-filaments-in-neurodegenerative-diseases
#3
Michel Goedert
The ordered assembly of Tau protein into abnormal filamentous inclusions is a defining characteristic of many human neurodegenerative diseases. Thirty years ago, we reported that Tau is an integral component of the intraneuronal filaments of Alzheimer's disease. All six brain Tau isoforms make up those filaments. Twenty years ago, we and others showed that mutations in MAPT, the Tau gene, cause familial forms of frontotemporal dementia, thus proving that dysfunction of Tau protein is sufficient to cause neurodegeneration and dementia...
May 22, 2018: FEBS Letters
https://www.readbyqxmd.com/read/29780858/can-visuospatial-measures-improve-the-diagnosis-of-alzheimer-s-disease
#4
REVIEW
Shirin Salimi, Muireann Irish, David Foxe, John R Hodges, Olivier Piguet, James R Burrell
Introduction: Overlapping and evolving symptoms lead to ambiguity in the diagnosis of dementia. Visuospatial function relies on parietal lobe function, which may be affected in the early stages of Alzheimer's disease (AD). This review evaluates visuospatial dysfunction in patients with AD, frontotemporal dementia, dementia with Lewy bodies, and vascular dementia to determine the diagnostic and prognostic potential of visuospatial tasks in AD. Methods: A systematic search of studies (1960-2016) investigating visuospatial dysfunction in dementia was conducted...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29773329/mutation-screening-of-the-tia1-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis-frontotemporal-dementia
#5
XiaoJing Gu, YongPing Chen, QianQian Wei, Bei Cao, RuWei Ou, XiaoQin Yuan, YanBin Hou, LingYu Zhang, Hui Liu, XuePing Chen, Hui-Fang Shang
Mutations in the low-complexity domain (LCD) of T-cell intracellular antigen-1 (TIA1) have been reported to be associated with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) in the Caucasian population. In the present study, we aimed to screen mutations in the LCD (exon 11-13) of TIA1 and determine the mutation frequency in Chinese ALS/FTD patients. A total of 740 ALS patients, including 721 sporadic ALS (sALS), 19 familial ALS, 24 FTD patients, and 501 healthy controls, were directly sequenced...
April 24, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29769783/trichotillomania-ranging-from-ritual-to-illness-and-as-a-rare-clinical-manifestation-of-frontotemporal-dementia-review-of-literature-and-case-report
#6
Thomas Gregor Issac, Ashay Vivek Telang, Sadanandavalli Retnaswami Chandra
Frontotemporal dementia (FTD) is the most common form of dementia in the younger age group and often exists with comorbid obsessions and compulsions in up to 80% of the patients. Trichotillomania or compulsive "hair-pulling" disorder is a rare manifestation of FTD and is a poorly evaluated symptom in this condition. The release of "grooming functions" due to frontal disinhibition is often attributed to the evolutionary perspective; however, recent findings also implicate the role of neurotransmitter dysfunction...
March 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29762648/a-new-framework-for-conceptualizing-symptoms-in-frontotemporal-dementia-from-animal-models-to-the-clinic
#7
Stephanie Wong, Bernard W Balleine, Fiona Kumfor
Behavioural-variant frontotemporal dementia is characterized by a number of ostensibly disparate clinical features, which have largely been considered independently. This Update proposes an integrated conceptual framework for these symptoms, by bringing together findings from animal studies, functional neuroimaging and behavioural neurology. The combined evidence indicates that many of the clinical symptoms--such as altered eating behaviour; overspending and susceptibility to scams; reduced empathy and socially inappropriate behaviour; apathy and stereotyped/ritualistic behaviour--can be conceptualized as a common underlying deficiency in goal-directed behaviour and the concomitant emergence of habits...
May 11, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29761124/progranulin-levels-in-blood-in-alzheimer-s-disease-and-mild-cognitive-impairment
#8
Yonatan A Cooper, Daniel Nachun, Deepika Dokuru, Zhongan Yang, Anna M Karydas, Ginette Serrero, Binbin Yue, Adam L Boxer, Bruce L Miller, Giovanni Coppola
Objective: Changes in progranulin ( GRN ) expression have been hypothesized to alter risk for Alzheimer's disease (AD). We investigated the relationship between GRN expression in peripheral blood and clinical diagnosis of AD and mild cognitive impairment (MCI). Methods: Peripheral blood progranulin gene expression was measured, using microarrays from Alzheimer's ( n = 186), MCI ( n = 118), and control ( n = 204) subjects from the University of California San Francisco Memory and Aging Center (UCSF-MAC) and two independent published series (AddNeuroMed and ADNI)...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29761121/poly-gp-neurofilament-and-grey-matter-deficits-in-c9orf72-expansion-carriers
#9
Lieke H H Meeter, Tania F Gendron, Ana C Sias, Lize C Jiskoot, Silvia P Russo, Laura Donker Kaat, Janne M Papma, Jessica L Panman, Emma L van der Ende, Elise G Dopper, Sanne Franzen, Caroline Graff, Adam L Boxer, Howard J Rosen, Raquel Sanchez-Valle, Daniela Galimberti, Yolande A L Pijnenburg, Luisa Benussi, Roberta Ghidoni, Barbara Borroni, Robert Laforce, Marta Del Campo, Charlotte E Teunissen, Rick van Minkelen, Julio C Rojas, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Anna M Karydas, Linn Öijerstedt, Elio Scarpini, Giuliano Binetti, Alessandro Padovani, David M Cash, Katrina M Dick, Martina Bocchetta, Bruce L Miller, Jonathan D Rohrer, Leonard Petrucelli, John C van Swieten, Suzee E Lee
Objective: To evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72- associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume. Methods: We measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29760392/author-correction-susceptible-genes-and-disease-mechanisms-identified-in-frontotemporal-dementia-and-frontotemporal-dementia-with-amyotrophic-lateral-sclerosis-by-dna-methylation-and-gwas
#10
E Taskesen, A Mishra, S van der Sluis, R Ferrari, J H Veldink, M A van Es, A B Smit, D Posthuma, Y Pijnenburg
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
May 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29760288/-neuropathologic-subtypes-of-frontotemporal-lobar-degeneration
#11
Mari Tada, Akiyoshi Kakita
Frontotemporal lobar degeneration (FTLD) is a heterogeneous disease entity encompassing a wide variety of histopathological features and genetic backgrounds. The last two decades have seen the discovery of causative genes and the identification of relevant proteins. The current histopathological classification is based on the major types of protein deposition in the brain, and most FTLD cases can be placed into one of three pathological subgroups: FTLD-tau, FTLD-TDP, and FTLD-FUS. Further sub-classification within each subgroup is based on the morphology of neuronal and glial inclusions and lesion distribution...
May 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29760282/the-c-elegans-ortholog-of-tdp-43-regulates-the-chromatin-localization-of-the-heterochromatin-protein-1-homolog-hpl-2
#12
Tassa K Saldi, Patrick Gonzales, Alfonso Garrido-Lecca, Vishantie Dostal, Christine M Roberts, Leonard Petrucelli, Christopher D Link
TDP-1 is the C. elegans ortholog of mammalian TDP-43, which is strongly implicated in the etiology of Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). We discovered that deletion of the tdp-1 gene results in enhanced nuclear RNA interference (RNAi). As nuclear RNAi in C. elegans involves chromatin changes moderated by HPL-2, a homolog of heterochromatin protein 1 (HP1), we investigated the interaction of TDP-1 and HPL-2. We find that TDP-1 and HPL-2 interact directly, and loss of TDP-1 dramatically alters the chromatin association of HPL-2...
May 14, 2018: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29755516/synaptic-paths-to-neurodegeneration-the-emerging-role-of-tdp-43-and-fus-in-synaptic-functions
#13
REVIEW
Shuo-Chien Ling
TAR DNA-binding protein-43 KDa (TDP-43) and fused in sarcoma (FUS) as the defining pathological hallmarks for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), coupled with ALS-FTD-causing mutations in both genes, indicate that their dysfunctions damage the motor system and cognition. On the molecular level, TDP-43 and FUS participate in the biogenesis and metabolism of coding and noncoding RNAs as well as in the transport and translation of mRNAs as part of cytoplasmic mRNA-ribonucleoprotein (mRNP) granules...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29755341/plasma-biomarkers-differentiate-parkinson-s-disease-from-atypical-parkinsonism-syndromes
#14
Chin-Hsien Lin, Shieh-Yueh Yang, Herng-Er Horng, Che-Chuan Yang, Jen-Jie Chieh, Hsin-Hsien Chen, Bing-Hsien Liu, Ming-Jang Chiu
Objective: Parkinson's disease (PD) has significant clinical overlaps with atypical parkinsonism syndromes (APS), which have a poorer treatment response and a more aggressive course than PD. We aimed to identify plasma biomarkers to differentiate PD from APS. Methods: Plasma samples ( n = 204) were obtained from healthy controls and from patients with PD, dementia with Lewy bodies (DLB), multiple system atrophy, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), or frontotemporal dementia (FTD) with parkinsonism (FTD-P) or without parkinsonism...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29755292/decoding-common-features-of-neurodegenerative-disorders-from-differentially-expressed-genes-to-pathways
#15
Rabia Habib, Nighat Noureen, Neha Nadeem
Background: Neurodegeneration is a progressive/irreversible loss of neurons, building blocks of our nervous system. Their degeneration gradually collapses the entire structural and functional system manifesting in myriads of clinical disorders categorized as Neurodegenerative Disorders (NDs) such as Alzheimer's Disease, (AD), Parkinson's Disease (PD), Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). NDs are characterized by a puzzling interplay of molecular and cellular defects affecting subset of neuronal populations in specific affected brain areas...
May 2018: Current Genomics
https://www.readbyqxmd.com/read/29754758/novel-valosin-containing-protein-mutations-associated-with-multisystem-proteinopathy
#16
Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimonis
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p...
April 17, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29751289/perfusion-alterations-converge-with-patterns-of-pathological-spread-in-transactive-response-dna-binding-protein-43-proteinopathies
#17
Pilar M Ferraro, Charles Jester, Christopher A Olm, Katerina Placek, Federica Agosta, Lauren Elman, Leo McCluskey, David J Irwin, John A Detre, Massimo Filippi, Murray Grossman, Corey T McMillan
Amyotrophic lateral sclerosis (ALS) and the behavioral variant of frontotemporal dementia (bvFTD) commonly share the presence of transactive response DNA-binding protein 43 (TDP-43) inclusions. Structural magnetic resonance imaging studies demonstrated evidence for TDP-43 pathology spread, but while structural imaging usually reveals overt neuronal loss, perfusion imaging may detect more subtle neural activity alterations. We evaluated perfusion as an early marker for incipient pathology-associated brain alterations in TDP-43 proteinopathies...
April 17, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29749507/identification-of-chchd2-mutations-in-patients-with-alzheimer-s-disease-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-in-china
#18
Xixi Liu, Bin Jiao, Weiwei Zhang, Tingting Xiao, Lihua Hou, Chuzheng Pan, Beisha Tang, Lu Shen
Recently, the coiled‑coil‑helix‑coiled‑coil‑helix domain 2 (CHCHD2) gene was identified as a possible causative gene for Parkinson's disease (PD). Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases. The present study screened all exons of the CHCHD2 gene in a total of 780 patients (511 AD, 181 ALS and 88 FTD) and 500 healthy controls from the Chinese Han population...
May 3, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29749079/acute-tau-knockdown-in-the-hippocampus-of-adult-mice-causes-learning-and-memory-deficits
#19
Ramon Velazquez, Eric Ferreira, An Tran, Emily C Turner, Ramona Belfiore, Caterina Branca, Salvatore Oddo
Misfolded and hyperphosphorylated tau accumulates in several neurodegenerative disorders including Alzheimer's disease, frontotemporal dementia with Parkinsonism, corticobasal degeneration, progressive supranuclear palsy, Down syndrome, and Pick's disease. Tau is a microtubule-binding protein, and its role in microtubule stabilization is well defined. In contrast, while growing evidence suggests that tau is also involved in synaptic physiology, a complete assessment of tau function in the adult brain has been hampered by robust developmental compensation of other microtubule-binding proteins in tau knockout mice...
May 10, 2018: Aging Cell
https://www.readbyqxmd.com/read/29748771/inhibition-impairment-in-frontotemporal-dementia-amyotrophic-lateral-sclerosis-and-alzheimer-s-disease-clinical-assessment-and-metabolic-correlates
#20
Jordi A Matías-Guiu, María Nieves Cabrera-Martín, María Valles-Salgado, Teresa Rognoni, Lucía Galán, Teresa Moreno-Ramos, José Luis Carreras, Jorge Matías-Guiu
The ability to reject an automatic tendency, i.e. inhibition, has been linked to the prefrontal cortex, but its neural underpinnings are still controversial. Neurodegenerative diseases represent an interesting model to explore this issue, given its frequent impairment in these disorders. We investigated the inhibitory impairment and its neural basis using four different tests, which evaluate the presence of inhibitory dysfunction (Stroop test, Hayling test, and two graphical perseveration tests), and assessed their correlation with brain metabolism using 18 F-fluorodeoxyglucose positron emission tomography in a group of 76 participants with behavioral variant frontotemporal dementia (bvFTD), Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and healthy controls (HC)...
May 10, 2018: Brain Imaging and Behavior
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