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https://www.readbyqxmd.com/read/29344470/aphasic-status-epilepticus-associated-with-uremia
#1
Min-Surk Kye, Jung-Ju Lee, Byung-Kun Kim, Ohyun Kwon, Jong Moo Park, Kyusik Kang, Woong-Woo Lee
Aphasic status epilepticus (ASE) is a rare disorder characterized by recurrent aphasia without impairment of other cognitive functions. A 76-year-old woman with chronic kidney disease developed ASE after neglecting peritoneal dialysis. Magnetic resonance imaging failed to demonstrate an appropriate lesion. Electroencephalography demonstrated ictal discharges in the left frontotemporal leads. ASE disappeared after intravenous valproic acid and correction of uremia. This is the first case report of ASE in a patient with acute aggravation of uremia...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29344342/frontotemporal-dementia-latest-evidence-and-clinical-implications
#2
REVIEW
Juan Joseph Young, Mallika Lavakumar, Deena Tampi, Silpa Balachandran, Rajesh R Tampi
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive syndromes that present with impairment of executive functioning, changes in behavior, and a decrease in language proficiency. FTD is the second most common form of dementia in those younger than 65 years and is expected to increase in prevalence as the population ages. This goal in our review is to describe advances in the understanding of neurobiological pathology, classification, assessment, and treatment of FTD syndromes...
January 2018: Therapeutic Advances in Psychopharmacology
https://www.readbyqxmd.com/read/29336840/heterozygous-tyrobp-deletion-ploslfin-is-not-a-strong-risk-factor-for-cognitive-impairment
#3
Karri Kaivola, Lilja Jansson, Elmo Saarentaus, Anna Kiviharju, Ville Rantalainen, Johan G Eriksson, Timo E Strandberg, Tuomo Polvikoski, Liisa Myllykangas, Pentti J Tienari
Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Some PLOSL-causing variants in TREM2 have also been associated with Alzheimer's disease when heterozygous. Here, we studied the PLOSLFINTYROBP deletion that covers 4 of the gene's 5 exons. We genotyped 3220 older Finns (mean age 79, range 58-104) and found 11 deletion carriers (mean age 78, range 60-94)...
December 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29332048/frequency-of-cardiovascular-genetic-risk-factors-in-a-calabrian-population-and-their-effects-on-dementia
#4
Raffaele Maletta, Nicoletta Smirne, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi, Rosanna Colao, Gianfranco Puccio, Sabrina A M Curcio, Valentina Laganà, Francesca Frangipane, Chiara Cupidi, Maria Mirabelli, Franca Vasso, Giusi Torchia, Maria G Muraca, Raffaele Di Lorenzo, Giuseppina Rose, Alberto Montesanto, Giuseppe Passarino, Amalia C Bruni
BACKGROUND: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. OBJECTIVES: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#5
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, 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, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29328983/social-and-cognitive-control-skills-in-long-life-occupation-activities-modulate-the-brain-reserve-in-the-behavioural-variant-of-frontotemporal-dementia
#6
Alessandra Dodich, Giulia Carli, Chiara Cerami, Sandro Iannaccone, Giuseppe Magnani, Daniela Perani
BACKGROUND: Cognitive reserve may delay disease onset and mitigate symptoms presentation in neurodegenerative dementias. Although high occupation levels can be associated with higher cognitive reserve in the behavioural variant of frontotemporal dementia (bvFTD), it was never addressed how specific occupation profiles involving social interaction, executive and attention abilities can modulate neural reserve in bvFTD. MATERIALS AND METHODS: We retrospectively included thirty-seven bvFTD patients with clinical-neuropsychological and FDG-PET brain metabolic data...
December 19, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29328927/alzheimer-s-disease-biomarker-guided-diagnostic-workflow-using-the-added-value-of-six-combined-cerebrospinal-fluid-candidates-a%C3%AE-1-42-total-tau-phosphorylated-tau-nfl-neurogranin-and-ykl-40
#7
Harald Hampel, Nicola Toschi, Filippo Baldacci, Henrik Zetterberg, Kaj Blennow, Ingo Kilimann, Stefan J Teipel, Enrica Cavedo, Antonio Melo Dos Santos, Stéphane Epelbaum, Foudil Lamari, Remy Genthon, Bruno Dubois, Roberto Floris, Francesco Garaci, Simone Lista
INTRODUCTION: The diagnostic and classificatory performances of all combinations of three core (amyloid β peptide [i.e., Aβ1-42], total tau [t-tau], and phosphorylated tau) and three novel (neurofilament light chain protein, neurogranin, and YKL-40) cerebrospinal fluid biomarkers of neurodegeneration were compared among individuals with mild cognitive impairment (n = 41), Alzheimer's disease dementia (ADD; n = 35), frontotemporal dementia (FTD; n = 9), and cognitively healthy controls (HC; n = 21), using 10-fold cross-validation...
January 9, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#8
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323119/cug-initiation-and-frameshifting-enable-production-of-dipeptide-repeat-proteins-from-als-ftd-c9orf72-transcripts
#9
Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne
Expansion of G4C2 repeats in the C9ORF72 gene is the most prevalent inherited form of amyotrophic lateral sclerosis and frontotemporal dementia. Expanded transcripts undergo repeat-associated non-AUG (RAN) translation producing dipeptide repeat proteins from all reading frames. We determined cis-factors and trans-factors influencing translation of the human C9ORF72 transcripts. G4C2 translation operates through a 5'-3' cap-dependent scanning mechanism, requiring a CUG codon located upstream of the repeats and an initiator Met-tRNAMeti...
January 11, 2018: Nature Communications
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
#10
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
#11
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/29311743/tdp-43-pathology-disrupts-nuclear-pore-complexes-and-nucleocytoplasmic-transport-in-als-ftd
#12
Ching-Chieh Chou, Yi Zhang, Mfon E Umoh, Spencer W Vaughan, Ileana Lorenzini, Feilin Liu, Melissa Sayegh, Paul G Donlin-Asp, Yu Han Chen, Duc M Duong, Nicholas T Seyfried, Maureen A Powers, Thomas Kukar, Chadwick M Hales, Marla Gearing, Nigel J Cairns, Kevin B Boylan, Dennis W Dickson, Rosa Rademakers, Yong-Jie Zhang, Leonard Petrucelli, Rita Sattler, Daniela C Zarnescu, Jonathan D Glass, Wilfried Rossoll
The cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a common histopathological hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia disease spectrum (ALS/FTD). However, the composition of aggregates and their contribution to the disease process remain unknown. Here we used proximity-dependent biotin identification (BioID) to interrogate the interactome of detergent-insoluble TDP-43 aggregates and found them enriched for components of the nuclear pore complex and nucleocytoplasmic transport machinery...
January 8, 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29310658/the-involvement-of-endoplasmic-reticulum-formation-and-protein-synthesis-efficiency-in-vcp-and-atl1-related-neurological-disorders
#13
REVIEW
Yu-Tzu Shih, Yi-Ping Hsueh
The endoplasmic reticulum (ER) is the biggest organelle in cells and is involved in versatile cellular processes. Formation and maintenance of ER morphology are regulated by a series of proteins controlling membrane fusion and curvature. At least six different ER morphology regulators have been demonstrated to be involved in neurological disorders-including Valosin-containing protein (VCP), Atlastin-1 (ATL1), Spastin (SPAST), Reticulon 2 (RTN2), Receptor expression enhancing protein 1 (REEP1) and RAB10-suggesting a critical role of ER formation in neuronal activity and function...
January 8, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29309953/facial-emotion-processing-in-patients-with-seizure-disorders
#14
Jerzy P Szaflarski, Jane B Allendorfer, Rodolphe Nenert, W Curt LaFrance, Helen I Barkan, Jennifer DeWolfe, Sandipan Pati, Ashley E Thomas, Lawrence Ver Hoef
Studies of emotion processing are needed to better understand the pathophysiology of psychogenic nonepileptic seizures (PNES). We examined the differences in facial emotion processing between 12 patients with PNES, 12 patients with temporal lobe epilepsy (TLE), and 24 matched healthy controls (HCs) using fMRI with emotional faces task (EFT) (happy/sad/fearful/neutral) and resting state connectivity. Compared with TLE, patients with PNES exhibited increased fMRI response to happy, neutral, and fearful faces in visual, temporal, and/or parietal regions and decreased fMRI response to sad faces in the putamen bilaterally...
January 5, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29309493/rates-of-amyloid-imaging-positivity-in-patients-with-primary-progressive-aphasia
#15
Miguel A Santos-Santos, Gil D Rabinovici, Leonardo Iaccarino, Nagehan Ayakta, Gautam Tammewar, Iryna Lobach, Maya L Henry, Isabel Hubbard, Maria Luisa Mandelli, Edoardo Spinelli, Zachary A Miller, Peter S Pressman, James P O'Neil, Pia Ghosh, Andreas Lazaris, Marita Meyer, Christa Watson, Soo Jin Yoon, Howard J Rosen, Lea Grinberg, William W Seeley, Bruce L Miller, William J Jagust, Maria Luisa Gorno-Tempini
Importance: The ability to predict the pathology underlying different neurodegenerative syndromes is of critical importance owing to the advent of molecule-specific therapies. Objective: To determine the rates of positron emission tomography (PET) amyloid positivity in the main clinical variants of primary progressive aphasia (PPA). Design, Setting, and Participants: This prospective clinical-pathologic case series was conducted at a tertiary research clinic specialized in cognitive disorders...
January 8, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29306521/what-can-autism-teach-us-about-the-role-of-sensorimotor-systems-in-higher-cognition-new-clues-from-studies-on-language-action-semantics-and-abstract-emotional-concept-processing
#16
REVIEW
Rachel L Moseley, Friedemann Pulvermüller
Within the neurocognitive literature there is much debate about the role of the motor system in language, social communication and conceptual processing. We suggest, here, that autism spectrum conditions (ASC) may afford an excellent test case for investigating and evaluating contemporary neurocognitive models, most notably a neurobiological theory of action perception integration where widely-distributed cell assemblies linking neurons in action and perceptual brain regions act as the building blocks of many higher cognitive functions...
December 7, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29305592/publisher-correction-anti-ampa-glua3-antibodies-in-frontotemporal-dementia-a-new-molecular-target
#17
B Borroni, J Stanic, C Verpelli, M Mellone, E Bonomi, A Alberici, P Bernasconi, L Culotta, E Zianni, S Archetti, M Manes, S Gazzina, R Ghidoni, L Benussi, C Stuani, M Di Luca, C Sala, E Buratti, A Padovani, F Gardoni
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
January 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29302778/a-zebrafish-model-for-c9orf72-als-reveals-rna-toxicity-as-a-pathogenic-mechanism
#18
Bart Swinnen, Andre Bento-Abreu, Tania F Gendron, Steven Boeynaems, Elke Bogaert, Rik Nuyts, Mieke Timmers, Wendy Scheveneels, Nicole Hersmus, Jiou Wang, Sarah Mizielinska, Adrian M Isaacs, Leonard Petrucelli, Robin Lemmens, Philip Van Damme, Ludo Van Den Bosch, Wim Robberecht
The exact mechanism underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) associated with the GGGGCC repeat expansion in C9orf72 is still unclear. Two gain-of-function mechanisms are possible: repeat RNA toxicity and dipeptide repeat protein (DPR) toxicity. We here dissected both possibilities using a zebrafish model for ALS. Expression of two DPRs, glycine-arginine and proline-arginine, induced a motor axonopathy. Similarly, expanded sense and antisense repeat RNA also induced a motor axonopathy and formed mainly cytoplasmic RNA foci...
January 4, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29302060/c9orf72-ggggcc-repeat-associated-non-aug-translation-is-upregulated-by-stress-through-eif2%C3%AE-phosphorylation
#19
Weiwei Cheng, Shaopeng Wang, Alexander A Mestre, Chenglai Fu, Andres Makarem, Fengfan Xian, Lindsey R Hayes, Rodrigo Lopez-Gonzalez, Kevin Drenner, Jie Jiang, Don W Cleveland, Shuying Sun
Hexanucleotide repeat expansion in C9ORF72 is the most frequent cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we demonstrate that the repeat-associated non-AUG (RAN) translation of (GGGGCC) n -containing RNAs into poly-dipeptides can initiate in vivo without a 5'-cap. The primary RNA substrate for RAN translation of C9ORF72 sense repeats is shown to be the spliced first intron, following its excision from the initial pre-mRNA and transport to the cytoplasm. Cap-independent RAN translation is shown to be upregulated by various stress stimuli through phosphorylation of the α subunit of eukaryotic initiation factor-2 (eIF2α), the core event of an integrated stress response (ISR)...
January 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29299378/moral-processing-deficit-in-behavioral-variant-frontotemporal-dementia-is-associated-with-facial-emotion-recognition-and-brain-changes-in-default-mode-and-salience-network-areas
#20
Jan Van den Stock, Daphne Stam, François-Laurent De Winter, Dante Mantini, Benedikt Szmrecsanyi, Koen Van Laere, Rik Vandenberghe, Mathieu Vandenbulcke
Introduction: Behavioral variant frontotemporal dementia (bvFTD) is associated with abnormal emotion recognition and moral processing. Methods: We assessed emotion detection, discrimination, matching, selection, and categorization as well as judgments of nonmoral, moral impersonal, moral personal low- and high-conflict scenarios. Results: bvFTD patients gave more utilitarian responses on low-conflict personal moral dilemmas. There was a significant correlation between a facial emotion processing measure derived through principal component analysis and utilitarian responses on low-conflict personal scenarios in the bvFTD group (controlling for MMSE-score and syntactic abilities)...
December 2017: Brain and Behavior
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