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Dementia frontotemporal

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https://www.readbyqxmd.com/read/28529873/white-matter-hyperintensities-are-seen-only-in-grn-mutation-carriers-in-the-genfi-cohort
#1
Carole H Sudre, Martina Bocchetta, David Cash, David L Thomas, Ione Woollacott, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Sébastien Ourselin, M Jorge Cardoso, Jonathan D Rohrer
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported the presence of cerebral white matter hyperintensities (WMH) in genetic FTD but this has not been systematically studied across the different mutations. In this study WMH were assessed in 180 participants from the Genetic FTD Initiative (GENFI) with 3D T1- and T2-weighed magnetic resonance images: 43 symptomatic (7 GRN, 13 MAPT and 23 C9orf72), 61 presymptomatic mutation carriers (25 GRN, 8 MAPT and 28 C9orf72) and 76 mutation negative non-carrier family members...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28527630/diagnostic-accuracy-of-csf-neurofilament-light-chain-protein-in-the-biomarker-guided-classification-system-for-alzheimer-s-disease
#2
Simone Lista, Nicola Toschi, Filippo Baldacci, Henrik Zetterberg, Kaj Blennow, Ingo Kilimann, Stefan J Teipel, Enrica Cavedo, Antonio Melo Dos Santos, Stéphane Epelbaum, Foudil Lamari, Bruno Dubois, Roberto Floris, Francesco Garaci, Harald Hampel
We assessed the diagnostic accuracy of cerebrospinal fluid (CSF) neurofilament light chain (NFL) protein in the classification of patients with Alzheimer's disease (AD) and cognitively healthy control individuals (HCs) and patients with frontotemporal dementia (FTD) as comparisons. Particularly, we tested the performance of CSF NFL concentration in differentiating patient groups stratified by fluid biomarker profiles, independently of the severity of cognitive impairment (mild cognitive impairment (MCI) and AD dementia individuals), using a biomarker-guided descriptive classification system for AD...
May 17, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28527524/c9orf72-hexanucleotide-repeat-expansions-and-ataxin-2-intermediate-length-repeat-expansions-in-indian-patients-with-amyotrophic-lateral-sclerosis
#3
Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekanandan
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the Caucasian population. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS in North America and Europe. We screened 131 ALS patients and 127 healthy controls from India for C9orf72 and ATXN2 repeat expansions. We found pathogenic hexanucleotide expansions in 3 of the 127 sporadic ALS patients, in 1 of the 4 familial ALS patients, and in none of the healthy controls...
April 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28523532/progressive-pathological-changes-in-neurochemical-profile-of-the-hippocampus-and-early-changes-in-the-olfactory-bulbs-of-tau-transgenic-mice-rtg4510
#4
Jieun Kim, In-Young Choi, Karen E Duff, Phil Lee
Tauopathies such as Alzheimer's disease and frontotemporal lobe degeneration (FTLD-tau) dementia, characterized by pathologic aggregation of the microtubule-associated tau protein and formation of neurofibrillary tangles, have been linked to neurodegeneration and cognitive decline. The early detection of cerebral abnormalities and the identification of biological contributors to the continuous pathologic processes of neurodegeneration in tauopathies critically hinge on sensitive and reliable measures of biomarkers in the living brain...
May 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28522837/age-related-penetrance-of-the-c9orf72-repeat-expansion
#5
Natalie A Murphy, Karissa C Arthur, Pentti J Tienari, Henry Houlden, Adriano Chiò, Bryan J Traynor
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing symptoms. Describing penetrance by age among C9orf72 carriers and identifying parameters that alter onset age are essential to better understanding this locus and to enhance predictive counseling...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28520598/imaging-plus-x-multimodal-models-of-neurodegenerative-disease
#6
Neil P Oxtoby, Daniel C Alexander
PURPOSE OF REVIEW: This article argues that the time is approaching for data-driven disease modelling to take centre stage in the study and management of neurodegenerative disease. The snowstorm of data now available to the clinician defies qualitative evaluation; the heterogeneity of data types complicates integration through traditional statistical methods; and the large datasets becoming available remain far from the big-data sizes necessary for fully data-driven machine-learning approaches...
May 16, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28515555/quantitative-balance-and-gait-measurement-in-patients-with-frontotemporal-dementia-and-alzheimer-diseases-a-pilot-study
#7
Selva Ganapathy Velayutham, Sadanandavalli Retnaswami Chandra, Srikala Bharath, Ravi Girikamatha Shankar
INTRODUCTION: Alzhiemers disease and Frontotemporal dementia are common neurodegenerative dementias with a wide prevalence. Falls are a common cause of morbidity in these patients. Identifying subclinical involvement of these parameters might serve as a tool in differential analysis of these distinct parameters involved in these conditions and also help in planning preventive strategies to prevent falls. PATIENTS AND METHODS: Eight patients in age and gender matched patients in each group were compared with normal controls...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28515553/long-loop-reflex-2-in-patients-with-cortical-dementias-a-pilot-study
#8
Sadanandavalli Retnaswami Chandra, Thomas Gregor Isaac, Mahesh Mane, Srikala Bharath, B C Nagaraju
INTRODUCTION: Dementia is a major public health problem and it appears to be a global epidemic. The prevalence is doubling every 5 years and it is expected that 70% of persons above 60 years will live in developing countries by 2020 and 15% of them are likely to suffer from dementia. Disease modifying treatments work only if initiated very early; however, diagnostic tools are not always able to clearly differentiate the different types in very early stage. Therefore, inexpensive and easily available biomarkers are needed to know if collectively they will improve the sensitivity of specific diagnosis...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28515546/use-of-jonkman-et-al-score-for-visual-quantification-of-electroencephalography-as-a-tool-to-assess-disease-severity-in-cortical-dementias
#9
R Kiran Kumar, Sadanandavalli Retnaswami Chandra, Girish B Kulkarni, Rose Dawn Bharath
OBJECTIVES: To study electroencephalography (EEG) changes in patients with cortical dementias (Alzheimer's disease [AD] and frontotemporal dementia (FTD). (1) To correlate EEG changes with clinical severity of dementia as assessed by rating scales. (2) To correlate global gray matter volume (GGMV) with EEG scores and clinical severity rating scales. PATIENTS AND METHODS: This is a prospective cross-sectional study involving patients fulfilling the criteria for Probable AD and FTD...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28512218/ubiquitin-and-atp-dependent-unfoldase-activity-of-p97-vcp%C3%A2-nploc4%C3%A2-ufd1l-is-enhanced-by-a-mutation-that-causes-multisystem-proteinopathy
#10
Emily E Blythe, Kristine C Olson, Vincent Chau, Raymond J Deshaies
p97 is a "segregase" that plays a key role in numerous ubiquitin (Ub)-dependent pathways such as ER-associated degradation. It has been hypothesized that p97 extracts proteins from membranes or macromolecular complexes to enable their proteasomal degradation; however, the complex nature of p97 substrates has made it difficult to directly observe the fundamental basis for this activity. To address this issue, we developed a soluble p97 substrate-Ub-GFP modified with K48-linked ubiquitin chains-for in vitro p97 activity assays...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28508101/in-depth-clinico-pathological-examination-of-rna-foci-in-a-large-cohort-of-c9orf72-expansion-carriers
#11
Mariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, Tania F Gendron, Kevin F Bieniek, Michael G Heckman, Aliaksei Vasilevich, Melissa E Murray, Linda Rousseau, Rachael Weesner, Anthony Lucido, Meeia Parsons, Jeannie Chew, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Bradley F Boeve, Neill R Graff-Radford, Jan de Boer, Yan W Asmann, Leonard Petrucelli, Kevin B Boylan, Dennis W Dickson, Marka van Blitterswijk, Rosa Rademakers
A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (C9ORF72) expression, formation of dipeptide-repeat proteins, and generation of RNA foci contribute to disease pathogenesis in amyotrophic lateral sclerosis and frontotemporal dementia. Although the levels of C9ORF72 transcripts and dipeptide-repeat proteins have already been examined thoroughly, much remains unknown about the role of RNA foci in C9ORF72-linked diseases. As such, we performed a comprehensive RNA foci study in an extensive pathological cohort of C9ORF72 expansion carriers (n = 63)...
May 15, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28506438/prion-like-spreading-in-tauopathies
#12
REVIEW
Jacob I Ayers, Benoit I Giasson, David R Borchelt
Tau is a microtubule-associated protein that functions in regulating cytoskeleton dynamics, especially in neurons. Misfolded and aggregated forms of tau produce pathological structures in a number of neurodegenerative diseases, including Alzheimer's disease (AD) and tauopathy dementias. These disorders can present with a sporadic etiology, such as in AD, or a familial etiology, such as in some cases of frontotemporal dementia with parkinsonism. Notably, the pathological features of tau pathology in these diseases can be very distinct...
April 13, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28501823/cerebellar-atrophy-in-neurodegeneration-a-meta-analysis
#13
REVIEW
Helena M Gellersen, Christine C Guo, Claire O'Callaghan, Rachel H Tan, Saber Sami, Michael Hornberger
INTRODUCTION: The cerebellum has strong cortical and subcortical connectivity, but is rarely taken into account for clinical diagnosis in many neurodegenerative conditions, particularly in the absence of clinical ataxia. The current meta-analysis aims to assess patterns of cerebellar grey matter atrophy in seven neurodegenerative conditions (Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), multiple system atrophy (MSA), progressive supranuclear palsy (MSP))...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28500752/which-ante-mortem-clinical-features-predict-progressive-supranuclear-palsy-pathology
#14
Gesine Respondek, Carolin Kurz, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Jennifer L Whitwell, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Jean-Christophe Corvol, Carlo Colosimo, Richard Dodel, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw Morris, Peter Nestor, Wolfgang H Oertel, Gil D Rabinovici, James B Rowe, Thilo van Eimeren, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Irene Litvan, Maria Stamelou, Günter U Höglinger
BACKGROUND: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. OBJECTIVE: To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. METHODS: We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology...
May 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28493090/-impaired-recognition-of-environmental-sounds-in-patients-with-dementia-i%C3%A2-can-hear-but-i%C3%A2-do-not-understand
#15
Birgit Dietz, Sarah Kohl, Johannes Mayer, Christoph Metzger, Hans Förstl, Janine Diehl-Schmid
BACKGROUND: Impairment of central auditory processing is a well-known symptom of neurodegenerative dementia; however, whilst numerous studies have examined verbal processing impairment, to date few have attempted to describe impairments of non-verbal, environmental sound recognition in patients with dementia. As these impairments may have direct implications on patient support and care, such studies are urgently necessary. AIM OF THE STUDY: The aim of the study was to determine whether the recognition of meaningful environmental sounds is impaired in patients with mild or early stage neurodegenerative dementia...
May 10, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28490746/pathogenic-p62-sqstm1-mutations-impair-energy-metabolism-through-limitation-of-mitochondrial-substrates
#16
Fernando Bartolome, Noemi Esteras, Angeles Martin-Requero, Claire Boutoleau-Bretonniere, Martine Vercelletto, Audrey Gabelle, Isabelle Le Ber, Tadashi Honda, Albena T Dinkova-Kostova, John Hardy, Eva Carro, Andrey Y Abramov
Abnormal mitochondrial function has been found in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Mutations in the p62 gene (also known as SQSTM1) which encodes the p62 protein have been reported in both disorders supporting the idea of an ALS/FTD continuum. In this work the role of p62 in energy metabolism was studied in fibroblasts from FTD patients carrying two independent pathogenic mutations in the p62 gene, and in a p62-knock-down (p62 KD) human dopaminergic neuroblastoma cell line (SH-SY5Y)...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28490314/pain-experience-in-dementia-subtypes-a-systematic-review
#17
Tarik T Binnekade, Janime Van Kooten, Frank Lobbezoo, Didi Rhebergen, J C Van der Wouden, Martin Smalbrugge, Erik J A Scherder
Recently, the number of studies focusing on pain in dementia has increased considerably. Still, little attention has been paid to the influence of the neuropathology of different dementia subtypes on pain experience. In 2003, a review identified several studies that indicated a relation between dementia subtype and pain experience. Now, ten years later, an update is warranted. We conducted a systematic review to identify studies that assessed pain experience and dementia subtypes by searching PubMed, Embase, PsycINFO, CINAHL, and Cochrane Library...
2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28487499/updated-meta-analysis-of-the-role-of-apoe-%C3%AE%C2%B52-%C3%AE%C2%B53-%C3%AE%C2%B54-alleles-in-frontotemporal-lobar-degeneration
#18
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
We performed an updated meta-analysis to assess the role of the ε2/ε3/ε4 alleles of Apolipoprotein E gene (APOE) in frontotemporal lobar degeneration (FTLD). The relevant articles were retrieved from PubMed, CENTRAL, EMBASE and Web of Science databases, and 51 eligible case-control studies with 5123 cases and 20566 controls were selected after screening according to inclusion and exclusion criteria. Our analysis demonstrated that APOE ε4 was associated with increased FTLD risk in all genetic models (ε4 vs...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28486594/apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#19
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
May 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28484365/wild-type-but-not-mutant-n296h-human-tau-restores-a%C3%AE-mediated-inhibition-of-ltp-in-tau-mice
#20
Mariana Vargas-Caballero, Franziska Denk, Heike J Wobst, Emily Arch, Chrysia-Maria Pegasiou, Peter L Oliver, Olivia A Shipton, Ole Paulsen, Richard Wade-Martins
Microtubule associated protein tau (MAPT) is involved in the pathogenesis of Alzheimer's disease and many forms of frontotemporal dementia (FTD). We recently reported that Aβ-mediated inhibition of hippocampal long-term potentiation (LTP) in mice requires tau. Here, we asked whether expression of human MAPT can restore Aβ-mediated inhibition on a mouse Tau(-/-) background and whether human tau with an FTD-causing mutation (N296H) can interfere with Aβ-mediated inhibition of LTP. We used transgenic mouse lines each expressing the full human MAPT locus using bacterial artificial chromosome technology...
2017: Frontiers in Neuroscience
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