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https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#1
Carolin A M Koriath, Martina Bocchetta, Emilie Brotherhood, Ione O C Woollacott, Penny Norsworthy, Javier Simón-Sánchez, Cornelis Blauwendraat, Katrina M Dick, Elizabeth Gordon, Sophie R Harding, Nick C Fox, Sebastian Crutch, Jason D Warren, Tamas Revesz, Tammaryn Lashley, Simon Mead, Jonathan D Rohrer
INTRODUCTION: Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. METHODS: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28228220/-measurements-of-pulmonary-artery-size-for-assessment-of-pulmonary-hypertension-by-cardiovascular-magnetic-resonance-and-clinical-application
#2
Fan Yang, Dong Li, Zhenwen Yang, Zhang Zhang, Dan Wang, Tielian Yu
BACKGROUND: Pulmonary hypertension (PH) often leads to dilatation of main pulmonary artery (MPA). MPA measurements can be used to predict PH. This aim of this study is to investigate power of MPA vessel indices, which are acquired from cardiovascular magnetic resonance, to evaluate PH. METHODS: Cardiovascular-magnetic-resonance-determined parameters of MPA were acquired and calculated in 83 PH patients, whose diagnosis were confirmed with right heart catheterization and 49 healthy volunteers; these parameters included MPA diameter (DPA), ratio of DPA and ascending aorta diameter (DPA/DAo), max mean diameter (MDmax), min mean diameter (MDmin), fraction transverse diameter (fTD), fraction longitudinal diameter (fLD), and distensibility...
February 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://www.readbyqxmd.com/read/28211814/are-major-dementias-triggered-by-poor-blood-flow-to-the-brain-theoretical-considerations
#3
Jack C de la Torre
There is growing evidence that chronic brain hypoperfusion plays a central role in the development of Alzheimer's disease (AD) long before dyscognitive symptoms or amyloid-β accumulation in the brain appear. This commentary proposes that dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD) may also develop from chronic brain hypoperfusion following a similar but not identical neurometabolic breakdown as AD. The argument to support this conclusion is that chronic brain hypoperfusion, which is found at the early stages of the three dementias reviewed here, will reduce oxygen delivery and lower oxidative phosphorylation promoting a steady decline in the synthesis of the cell energy fuel adenosine triphosphate (ATP)...
February 15, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28199994/association-between-montreal-cognitive-assessment-sub-item-scores-and-corresponding-cognitive-test-performance-in-patients-with-frontotemporal-dementia-and-related-disorders
#4
Kristy K L Coleman, Brenda L Coleman, Julia D MacKinley, Stephen H Pasternak, Elizabeth C Finger
The Montreal Cognitive Assessment (MoCA), a brief screening test developed to detect patients with mild cognitive impairment, is used in clinical settings across North America [Nasreddine et al.: J Am Geriatr Soc 2005;53:695-699]. The MoCA has been demonstrated to be sensitive to cognitive deficits in frontotemporal dementias (FTD) and related disorders [Coleman et al.: Alzheimer Dis Assoc Disord 2016;30:258-263]. Given attentional impairments in patients with FTD, whether and to what extent the abbreviated items on the MoCA may predict performance on corresponding assessments is not known...
February 16, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28197542/the-proline-arginine-dipeptide-from-hexanucleotide-repeat-expanded-c9orf72-inhibits-the-proteasome
#5
Rahul Gupta, Matthews Lan, Jelena Mojsilovic-Petrovic, Won Hoon Choi, Nathaniel Safren, Sami Barmada, Min Jae Lee, Robert Kalb
An intronic hexanucleotide repeat expansion (HRE) mutation in the C9ORF72 gene is the most common cause of familial ALS and frontotemporal dementia (FTD) and is found in ∼7% of individuals with apparently sporadic disease. Several different diamino acid peptides can be generated from the HRE by noncanonical translation (repeat-associated non-ATG translation, or RAN translation), and some of these peptides can be toxic. Here, we studied the effects of two arginine containing RAN translation products [proline/arginine repeated 20 times (PR20) and glycine/arginine repeated 20 times (GR20)] in primary rat spinal cord neuron cultures grown on an astrocyte feeder layer...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28184974/-causes-of-death-in-amyotrophic-lateral-sclerosis-results-from-the-rhineland-palatinate-als-registry
#6
J Wolf, A Safer, J C Wöhrle, F Palm, W A Nix, M Maschke, A J Grau
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is associated with an increased mortality. Knowledge of possible causes of death could lead to an individualization of the palliative treatment concept and result in a differentiated palliative treatment pathway. Currently, only few systematic data are available on the heterogeneity of causes of death associated with ALS. OBJECTIVE: Analysis of the various causes of death in a prospective population-based German cohort of ALS patients...
February 9, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28182108/assessment-of-the-usefulness-of-multiplex-real-time-pcr-tests-in-the-diagnostic-and-therapeutic-process-of-pneumonia-in-hospitalized-children-a-single-center-experience
#7
Ewelina Gowin, Alicja Bartkowska-Śniatkowska, Katarzyna Jończyk-Potoczna, Joanna Wysocka-Leszczyńska, Waldemar Bobkowski, Piotr Fichna, Paulina Sobkowiak, Katarzyna Mazur-Melewska, Anna Bręborowicz, Jacek Wysocki, Danuta Januszkiewicz-Lewandowska
The aim of the study was assessment of the usefulness of multiplex real-time PCR tests in the diagnostic and therapeutic process in children hospitalized due to pneumonia and burdened with comorbidities. Methods. The study group included 97 children hospitalized due to pneumonia at the Karol Jonscher Teaching Hospital in Poznań, in whom multiplex real-time PCR tests (FTD respiratory pathogens 33; fast-track diagnostics) were used. Results. Positive test results of the test were achieved in 74 patients (76...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28176002/dysfunction-of-the-blood-cerebrospinal-fluid-barrier-and-n-methyl-d-aspartate-glutamate-receptor-antibodies-in-dementias
#8
Mandy Busse, Ralf Kunschmann, Henrik Dobrowolny, Jessica Hoffmann, Bernhard Bogerts, Johann Steiner, Thomas Frodl, Stefan Busse
N-Methyl-D-aspartate glutamate receptor (NMDA-R) antibodies (Abs) could play a role in neurodegenerative disorders. Since, in these diseases, NMDA-R Abs were detected in serum, but only sporadic in cerebrospinal fluid (CSF), the origin and impact of the Abs are still unresolved. We examined the presence of NMDA-R Abs in serum and CSF using a cell-based immunofluorescence assay as well as the function of the blood-CSF-barrier (B-CSF-B) by determination of Q albumin (ratio of albumin in CSF and serum) in patients with mild cognitive impairment (MCI; N = 59) and different types of dementia, Alzheimer's disease (AD; N = 156), subcortical ischemic vascular dementia (SIVD; N = 61), and frontotemporal dementia (FTD; N = 34)...
February 8, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28165465/apical-dendrite-degeneration-a-novel-cellular-pathology-for-betz-cells-in-als
#9
Barış Genç, Javier H Jara, Amiko K B Lagrimas, Peter Pytel, Raymond P Roos, M Marsel Mesulam, Changiz Geula, Eileen H Bigio, P Hande Özdinler
Apical dendrites of Betz cells are important sites for the integration of cortical input, however their health has not been fully assessed in ALS patients. We investigated the primary motor cortices isolated from post-mortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (FTD-ALS), and Alzheimer's disease (AD), and found profound apical dendrite degeneration of Betz cells in both fALS and sALS, as well as FTD-ALS patients. In contrast, Betz cells of AD patients and normal controls retain cellular integrity in the motor cortex, and CA1 pyramidal neurons show abnormalities predominantly within their soma, rather than the apical dendrite...
February 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28153380/grn-deletion-in-familial-frontotemporal-dementia-showing-association-with-clinical-variability-in-3-familial-cases
#10
Graziella Milan, Sabrina Napoletano, Sabina Pappatà, Maria Teresa Gentile, Luca Colucci-D'Amato, Gennaro Della Rocca, Anna Maciag, Carmen Palermo Rossetti, Laura Fucci, Annibale Puca, Dario Grossi, Alfredo Postiglione, Emilia Vitale
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal dementia (FTD) and are present in about 23% of patients with familial FTD. However, the neurobiology of this secreted glycoprotein remains unclear. Here, we report the identification of 3 pedigrees of Southern Italian extraction in whom FTD segregates with autosomal dominant inheritance patterns. We present evidence that all the available patients in these 3 familial cases are carrying the rare GRN gene exon 6 deletion g10325_10331delCTGCTGT (relative to nt 1 inNG_007886...
January 9, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28153046/mitochondrial-dna-point-mutations-and-relative-copy-number-in-1363-disease-and-control-human-brains
#11
Wei Wei, Michael J Keogh, Ian Wilson, Jonathan Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akinibi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Christopher M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in neurodegenerative disorders, and recent evidence also implicates mtDNA levels. To address these issues we studied 1363 post mortem human brains with a histopathological diagnosis of Parkinson's disease (PD), Alzheimer's disease (AD), Frontotemporal dementia - Amyotrophic Lateral Sclerosis (FTD-ALS), Creutzfeldt Jacob disease (CJD), and healthy controls...
February 2, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28153034/tdp-43-cryptic-exons-are-highly-variable-between-cell-types
#12
Yun Ha Jeong, Jonathan P Ling, Sophie Z Lin, Aneesh N Donde, Kerstin E Braunstein, Elisa Majounie, Bryan J Traynor, Katherine D LaClair, Thomas E Lloyd, Philip C Wong
BACKGROUND: TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM). Our recent finding that TDP-43 represses nonconserved cryptic exons led us to ask whether cell type-specific cryptic exons could exist to impact unique molecular pathways in brain or muscle. METHODS: In the present work, we investigated TDP-43's function in various mouse tissues to model disease pathogenesis...
February 2, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28149088/autonomic-dysfunction-a-comparative-study-of-patients-with-alzheimer-s-and-frontotemporal-dementia-a-pilot-study
#13
Thomas Gregor Issac, Sadanandavalli Retnaswami Chandra, Neelesh Gupta, Malligurki Raghurama Rukmani, S Deepika, T N Sathyaprabha
INTRODUCTION: In frontotemporal dementia (FTD) and Alzheimer's disease (AD), central autonomic structures get affected early. An insight into autonomic functions in these patients is likely to be of diagnostic importance and thus help in prognosticating and also probably explain unexplained sudden death in some of these patients. OBJECTIVES: The objective of this study is to identify autonomic dysfunction prevailing in patients. Then, if there is dysfunction, is the pattern same or different in these two conditions...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28132891/c9orf72-disease-related-foci-are-each-composed-of-one-mutant-expanded-repeat-rna
#14
Jing Liu, Jiaxin Hu, Andrew T Ludlow, Jacqueline T Pham, Jerry W Shay, Jeffrey D Rothstein, David R Corey
The chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (GGGGCC) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mutant intronic RNA forms "foci" within nuclei, but the connection between transcript expression, foci, and biochemical disease mechanisms is unclear. Knowing the absolute numbers of cellular RNAs, in any system, is important for understanding the molecular mechanisms of natural physiology, disease, and drug action...
January 18, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28131168/hla-dra-hla-drb5-polymorphism-affects-risk-of-sporadic-als-and-survival-in-a-southwest-chinese-cohort
#15
Xinglong Yang, JinHua Zheng, Sijia Tian, Yalan Chen, Ran An, Quanzhen Zhao, Yanming Xu
INTRODUCTION: Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668). METHODS: We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28130473/frontotemporal-dementia-with-the-v337m-mapt-mutation-tau-pet-and-pathology-correlations
#16
Salvatore Spina, Daniel R Schonhaut, Bradley F Boeve, William W Seeley, Rik Ossenkoppele, James P O'Neil, Andreas Lazaris, Howard J Rosen, Adam L Boxer, David C Perry, Bruce L Miller, Dennis W Dickson, Joseph E Parisi, William J Jagust, Melissa E Murray, Gil D Rabinovici
OBJECTIVE: To assess the efficacy of [(18)F]AV1451 PET in visualizing tau pathology in vivo in a patient with frontotemporal dementia (FTD) associated with the V337M microtubule-associated protein tau (MAPT) mutation. METHODS: MAPT mutations are associated with the deposition of hyperphosphorylated tau protein in neurons and glia. The PET tracer [(18)F]AV1451 binds with high affinity to paired helical filaments tau that comprises neurofibrillary tangles in Alzheimer disease (AD), while postmortem studies suggest lower or absent binding to the tau filaments of the majority of non-AD tauopathies...
January 27, 2017: Neurology
https://www.readbyqxmd.com/read/28130314/disease-mechanisms-of-c9orf72-repeat-expansions
#17
Tania F Gendron, Leonard Petrucelli
G4C2 repeat expansions within the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These bidirectionally transcribed expansions lead to (1) the accumulation of sense G4C2 and antisense G2C4 repeat-containing RNA, (2) the production of proteins of repeating dipeptides through unconventional translation of these transcripts, and (3) decreased C9ORF72 mRNA and protein expression. Consequently, there is ample opportunity for the C9ORF72 mutation to give rise to a spectrum of clinical manifestations, ranging from muscle weakness and atrophy to changes in behavior and cognition...
January 27, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28129109/motor-coordinative-and-cognitive-dysfunction-caused-by-mutant-tdp-43-could-be-reversed-by-inhibiting-its-mitochondrial-localization
#18
Wenzhang Wang, Hiroyuki Arakawa, Luwen Wang, Ogoegbunam Okolo, Sandra L Siedlak, Yinfei Jiang, Ju Gao, Fei Xie, Robert B Petersen, Xinglong Wang
Dominant missense mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral sclerosis (ALS), and the cytoplasmic accumulation of TDP-43 represents a pathological hallmark in ALS and frontotemporal lobar degeneration (FTD). Behavioral investigation of the transgenic mouse model expressing the disease-causing human TDP-43 M337V mutant (TDP-43(M337V) mice) is encumbered by premature death in homozygous transgenic mice and a reported lack of phenotype assessed by tail elevation and footprint in hemizygous transgenic mice...
January 4, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28128768/effects-of-multiple-genetic-loci-on-age-at%C3%A2-onset-in-frontotemporal-dementia
#19
Raffaele Ferrari, Mario Grassi, Francesca Graziano, Fernando Palluzzi, Silvana Archetti, Elisa Bonomi, Amalia C Bruni, Raffaele G Maletta, Livia Bernardi, Chiara Cupidi, Rosanna Colao, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Daniela Galimberti, Elio Scarpini, Maria Serpente, Benedetta Nacmias, Irene Piaceri, Silvia Bagnoli, Giacomina Rossi, Giorgio Giaccone, Fabrizio Tagliavini, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Andrew Singleton, John Hardy, Parastoo Momeni, Alessandro Padovani, Barbara Borroni
In frontotemporal dementia (FTD), age at disease onset (AAO) is unpredictable in both early and late-onset cases; AAO variability is found even in autosomal dominant FTD. The present study was aimed at identifying genetic modifiers modulating AAO in a large cohort of Italian FTD patients. We conducted an association analysis on 411 FTD patients, belonging to 7 Italian Centers, and for whom AAO was available. Population structure was evaluated by principal component analysis to infer continuous axes of genetic variation, and single linear regression models were applied...
January 23, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28125704/no-evidence-for-pathogenic-role-of-ubqln2-mutations-in-sporadic-amyotrophic-lateral-sclerosis-in-the-mainland-chinese-population
#20
Xiao Huang, Shen Shen, Dongsheng Fan
Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with frontotemporal dementia (FTD). We analyzed mutations in the UBQLN2 gene in a Chinese cohort of 515 patients with sporadic ALS (sALS). A novel missense mutation (p.M392V) was detected in one sALS patient. The p.M392V mutation substitutes a highly conserved residue, has not been reported in the population databases, and previously, at the same residue, a missense mutation p...
2017: PloS One
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