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https://www.readbyqxmd.com/read/29792890/the-visual-cortex-and-visual-cognition-in-huntington-s-disease-an-overview-of-current-literature
#1
REVIEW
Emma M Coppen, Jeroen van der Grond, Ellen P Hart, Egbert A J F Lakke, Raymund A C Roos
The processing of visual stimuli from retina to higher cortical areas has been extensively studied in the human brain. In Huntington's disease (HD), an inherited neurodegenerative disorder, it is suggested that visual processing deficits are present in addition to more characteristic signs such as motor disturbances, cognitive dysfunction, and behavioral changes. Visual deficits are clinically important because they influence overall cognitive performance and have implications for daily functioning. The aim of this review is to summarize current literature on clinical visual deficits, visual cognitive impairment, and underlying visual cortical changes in HD patients...
May 21, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29791508/does-arterial-hypertension-influence-the-onset-of-huntington-s-disease
#2
Leire Valcárcel-Ocete, Asier Fullaondo, Gorka Alkorta-Aranburu, María García-Barcina, Raymund A C Roos, Lena E Hjermind, Carsten Saft, Marina Frontali, Ralf Reilmann, Hugh Rickards, Ana M Zubiaga, Ana Aguirre
Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network...
2018: PloS One
https://www.readbyqxmd.com/read/29789657/the-cooh-terminal-domain-of-huntingtin-interacts-with-rhogef-kalirin-and-modulates-cell-survival
#3
Hollis McClory, Xiaolong Wang, Ellen Sapp, Leah W Gatune, Maria Iuliano, Chiu-Yi Wu, Gina Nathwani, Kimberly B Kegel-Gleason, Marian DiFiglia, Xueyi Li
Human huntingtin (Htt) contains 3144 amino acids and has an expanded polyglutamine region near the NH2 -terminus in patients with Huntington's disease. While numerous binding partners have been identified to NH2 -terminal Htt, fewer proteins are known to interact with C-terminal domains of Htt. Here we report that kalirin, a Rac1 activator, is a binding partner to C-terminal Htt. Kalirin and Htt co-precipitated from mouse brain endosomes and co-localized at puncta in NRK and immortalized striatal cells and primary cortical neurons...
May 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29788997/2d-versus-3d-human-induced-pluripotent-stem-cell-derived-cultures-for-neurodegenerative-disease-modelling
#4
REVIEW
Eduarda G Z Centeno, Helena Cimarosti, Angela Bithell
Neurodegenerative diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS), affect millions of people every year and so far, there are no therapeutic cures available. Even though animal and histological models have been of great aid in understanding disease mechanisms and identifying possible therapeutic strategies, in order to find disease-modifying solutions there is still a critical need for systems that can provide more predictive and physiologically relevant results...
May 22, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29788038/testing-a-longitudinal-compensation-model-in-premanifest-huntington-s-disease
#5
Sarah Gregory, Jeffrey D Long, Stefan Klöppel, Adeel Razi, Elisa Scheller, Lora Minkova, Eileanoir B Johnson, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, James A Mills, Julie C Stout, Rachael I Scahill, Sarah J Tabrizi, Geraint Rees
The initial stages of neurodegeneration are commonly marked by normal levels of cognitive and motor performance despite the presence of structural brain pathology. Compensation is widely assumed to account for this preserved behaviour, but despite the apparent simplicity of such a concept, it has proven incredibly difficult to demonstrate such a phenomenon and distinguish it from disease-related pathology. Recently, we developed a model of compensation whereby brain activation, behaviour and pathology, components key to understanding compensation, have specific longitudinal trajectories over three phases of progression...
May 17, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29786964/a-thorough-qt-qtc-study-with-laquinimod-a-novel-immunomodulator-in-development-for-multiple-sclerosis-and-huntington-disease
#6
Ofer Spiegelstein, Dorit Mimrod, Laura Rabinovich, Eli Eyal, Craig Sprenger, Anna Elgart, Emil Samara, Joel Morganroth
In this randomized double-blind study, 4 groups of healthy subjects (50 per arm) participated to evaluate the effect of laquinimod, an oral treatment in development for multiple sclerosis and Huntington disease, on the QTc interval. Subjects received a dose of either 0.6 or 1.2 mg/day laquinimod for 14 days, placebo for 14 days, or 13 days of placebo followed by a dose of 400 mg moxifloxacin on day 14. Continuous 12-lead electrocardiograms were recorded on day -1 (baseline) and days 14 to 17,  and quadruplicate electrocardiograms were extracted at predefined time points...
May 22, 2018: Clinical Pharmacology in Drug Development
https://www.readbyqxmd.com/read/29785228/evaluating-the-utility-of-a-structured-clinical-protocol-for-reducing-the-impact-of-behavioural-and-psychological-symptoms-of-dementia-in-progressive-neurological-diseases-a-pilot-study
#7
Nicholas P Ryan, Laura Scott, Maryanne McPhee, Susan Mathers, Marie-Claire Davis, Roxanne Maule, Fiona Fisher
Objectives: Behavioural and psychological symptoms of dementia (BPSD) cause significant distress to both aged care residents and staff. Despite the high prevalence of BPSD in progressive neurological diseases (PNDs) such as multiple sclerosis, Huntington's disease, and Parkinson's disease, the utility of a structured clinical protocol for reducing BPSD has not been systematically evaluated in PND populations. Method: Staff ( n = 51) and individuals with a diagnosis of PND ( n = 13) were recruited into the study, which aimed to evaluate the efficacy of a PND-specific structured clinical protocol for reducing the impact of BPSD in residential aged care (RAC) and specialist disability accommodation (SDA) facilities...
2018: Behavioural Neurology
https://www.readbyqxmd.com/read/29784843/high-dose-and-delayed-treatment-with-bile-acids-ineffective-in-rml-prion-infected-mice
#8
Grant Norman, Jody Campeau, Valerie L Sim
Prion diseases are a group of neurodegenerative diseases associated with the misfolding of the cellular prion protein (PrPC ) into the infectious form (PrPSc ). There are currently no treatments for prion disease. Bile acids have the ability to protect hepatocytes from apoptosis and are neuroprotective in animal models of other protein folding neurodegenerative diseases including Huntington's, Parkinson's, and Alzheimer's disease. Importantly, bile acids are approved for clinical use in patients with cirrhosis, and have recently been shown to be safe and possibly effective in pilot trials of patients with amyotrophic lateral sclerosis (ALS)...
May 21, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29783994/large-scale-transcriptomic-analysis-reveals-that-pridopidine-reverses-aberrant-gene-expression-and-activates-neuroprotective-pathways-in-the-yac128-hd-mouse
#9
Rebecca Kusko, Jennifer Dreymann, Jermaine Ross, Yoonjeong Cha, Renan Escalante-Chong, Marta Garcia-Miralles, Liang Juin Tan, Michael E Burczynski, Ben Zeskind, Daphna Laifenfeld, Mahmoud Pouladi, Michal Geva, Iris Grossman, Michael R Hayden
BACKGROUND: Huntington Disease (HD) is an incurable autosomal dominant neurodegenerative disorder driven by an expansion repeat giving rise to the mutant huntingtin protein (mHtt), which is known to disrupt a multitude of transcriptional pathways. Pridopidine, a small molecule in development for treatment of HD, has been shown to improve motor symptoms in HD patients. In HD animal models, pridopidine exerts neuroprotective effects and improves behavioral and motor functions. Pridopidine binds primarily to the sigma-1 receptor, (IC50 ~ 100 nM), which mediates its neuroprotective properties, such as rescue of spine density and aberrant calcium signaling in HD neuronal cultures...
May 21, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29775624/characterization-and-comparative-analysis-of-a-new-mouse-microglial-cell-model-for-studying-neuroinflammatory-mechanisms-during-neurotoxic-insults
#10
Souvarish Sarkar, Emir Malovic, Deeksha Sarda, Vivek Lawana, Dharmin Rokad, Huajun Jin, Vellareddy Anantharam, Arthi Kanthasamy, Anumantha G Kanthasamy
Microglia are the first responders of the central nervous system, acting as the key modulators of neuroinflammation observed during neurotoxic insults as well as in the pathophysiology of several neurodegenerative disorders including Alzheimer's (AD), Parkinson's (PD), and Huntington's diseases (HD). The number of publications on microglia has increased steadily throughout the past decade because of immense interests in the neuroinflammation that precedes the neurodegenerative process. To study microglial biology and its role in modulating neuroinflammation, immortalized microglial cell lines derived from mice, rats, and humans have been developed...
May 15, 2018: Neurotoxicology
https://www.readbyqxmd.com/read/29770921/neuronal-adenosine-a-2a-receptor-overexpression-is-neuroprotective-towards-3-nitropropionic-acid-induced-striatal-toxicity-a-rat-model-of-huntington-s-disease
#11
Maria Rosaria Domenici, Valentina Chiodi, Mirko Averna, Monica Armida, Antonella Pèzzola, Rita Pepponi, Antonella Ferrante, Michael Bader, Kjell Fuxe, Patrizia Popoli
The A2A adenosine receptor (A2A R) is widely distributed on different cellular types in the brain, where it exerts a broad spectrum of pathophysiological functions, and for which a role in different neurodegenerative diseases has been hypothesized or demonstrated. To investigate the role of neuronal A2A Rs in neurodegeneration, we evaluated in vitro and in vivo the effect of the neurotoxin 3-nitropropionic acid (3-NP) in a transgenic rat strain overexpressing A2A Rs under the control of the neural-specific enolase promoter (NSEA2A rats)...
May 16, 2018: Purinergic Signalling
https://www.readbyqxmd.com/read/29769649/organoruthenium-ii-complexes-ameliorates-oxidative-stress-and-impedes-the-age-associated-deterioration-in-caenorhabditis-elegans-through-jnk-1-daf-16-signalling
#12
G Devagi, A Mohankumar, G Shanmugam, S Nivitha, F Dallemer, P Kalaivani, P Sundararaj, R Prabhakaran
New ruthenium(II) complexes were synthesised and characterized by various spectro analytical techniques. The structure of the complexes 3 and 4 has been confirmed by X-ray crystallography. The complexes were subjected to study their anti-oxidant profile and were exhibited significantly greater in vitro DPPH radical scavenging activity than vitamin C. We found that complexes 1-4 confered tolerance to oxidative stress and extend the mean lifespan of mev-1 mutant worms and wild-type Caenorhabditis elegans. Further, mechanistic study and reporter gene expression analysis revealed that Ru(ƞ6 -p-cymene) complexes maintained the intracellular redox status and offers stress resistance through activating JNK-1/DAF-16 signaling axis and possibly by other antioxidant response pathway...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29769266/regulation-of-bdnf-release-by-arms-kidins220-through-modulation-of-synaptotagmin-iv-levels
#13
Saray López-Benito, Julia Sánchez-Sánchez, Verónica Brito, Laura Calvo, Silvia Lisa, María Torres-Valle, Mary E Palko, Cristina Vicente-García, Seila Fernández-Fernández, Juan P Bolaños, Silvia Ginés, Lino Tessarollo, Juan C Arévalo
BDNF is a growth factor with important roles in the nervous system in both physiological and pathological conditions, but the mechanisms controlling its secretion are not completely understood. Here, we show that ARMS/Kidins220 negatively regulates BDNF secretion in neurons from the central and peripheral nervous systems. Downregulation of the ARMS/Kidins220 protein in the adult mouse brain increases regulated BDNF secretion leading to its accumulation in the striatum. Interestingly, two mouse models of Huntington's disease (HD) showed increased levels of ARMS/Kidins220 in the hippocampus and regulated BDNF secretion deficits...
May 16, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29768217/integrative-characterization-of-the-r6-2-mouse-model-of-huntington-s-disease-reveals-dysfunctional-astrocyte-metabolism
#14
Niels H Skotte, Jens V Andersen, Alberto Santos, Blanca I Aldana, Cecilie W Willert, Anne Nørremølle, Helle S Waagepetersen, Michael L Nielsen
Huntington's disease is a fatal neurodegenerative disease, where dysfunction and loss of striatal and cortical neurons are central to the pathogenesis of the disease. Here, we integrated quantitative studies to investigate the underlying mechanisms behind HD pathology in a systems-wide manner. To this end, we used state-of-the-art mass spectrometry to establish a spatial brain proteome from late-stage R6/2 mice and compared this with wild-type littermates. We observed altered expression of proteins in pathways related to energy metabolism, synapse function, and neurotransmitter homeostasis...
May 15, 2018: Cell Reports
https://www.readbyqxmd.com/read/29766738/the-role-of-gene-editing-in-neurodegenerative-diseases
#15
Hueng-Chuen Fan, Ching-Shiang Chi, Yih-Jing Lee, Jeng-Dau Tsai, Shinn-Zong Lin, Horng-Jyh Harn
Neurodegenerative diseases (NDs), at least including Alzheimer's, Huntington's, and Parkinson's diseases, have become the most dreaded maladies because there are no precise diagnostic tools or definite treatments for these debilitating diseases. The increased prevalence and a substantial impact on the social-economic and medical care of NDs propel governments to develop policies to counteract the impact. Although the etiologies of NDs are still unknown, growing evidence suggests that genetic, cellular, and circuit alternations may cause the generation of abnormal misfolded proteins, which uncontrolledly accumulate to damage and eventually overwhelm the protein-disposal mechanisms of these neurons, leading to a common pathological feature of NDs...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29765031/comprehensive-epigenetic-landscape-of-rheumatoid-arthritis-fibroblast-like-synoviocytes
#16
Rizi Ai, Teresina Laragione, Deepa Hammaker, David L Boyle, Andre Wildberg, Keisuke Maeshima, Emanuele Palescandolo, Vinod Krishna, David Pocalyko, John W Whitaker, Yuchen Bai, Sunil Nagpal, Kurtis E Bachman, Richard I Ainsworth, Mengchi Wang, Bo Ding, Percio S Gulko, Wei Wang, Gary S Firestein
Epigenetics contributes to the pathogenesis of immune-mediated diseases like rheumatoid arthritis (RA). Here we show the first comprehensive epigenomic characterization of RA fibroblast-like synoviocytes (FLS), including histone modifications (H3K27ac, H3K4me1, H3K4me3, H3K36me3, H3K27me3, and H3K9me3), open chromatin, RNA expression and whole-genome DNA methylation. To address complex multidimensional relationship and reveal epigenetic regulation of RA, we perform integrative analyses using a novel unbiased method to identify genomic regions with similar profiles...
May 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29762808/textbook-of-global-health-fourth-edition
#17
Mark K Huntington
No abstract text is available yet for this article.
May 2018: Family Medicine
https://www.readbyqxmd.com/read/29761120/an-image-based-model-of-brain-volume-biomarker-changes-in-huntington-s-disease
#18
Peter A Wijeratne, Alexandra L Young, Neil P Oxtoby, Razvan V Marinescu, Nicholas C Firth, Eileanoir B Johnson, Amrita Mohan, Cristina Sampaio, Rachael I Scahill, Sarah J Tabrizi, Daniel C Alexander
Objective: Determining the sequence in which Huntington's disease biomarkers become abnormal can provide important insights into the disease progression and a quantitative tool for patient stratification. Here, we construct and present a uniquely fine-grained model of temporal progression of Huntington's disease from premanifest through to manifest stages. Methods: We employ a probabilistic event-based model to determine the sequence of appearance of atrophy in brain volumes, learned from structural MRI in the Track-HD study, as well as to estimate the uncertainty in the ordering...
May 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29760562/tau-a-common-denominator-and-therapeutic-target-for-neurodegenerative-disorders
#19
Alexander Maxan, Francesca Cicchetti
There is compelling evidence that a number of neurodegenerative diseases share common pathogenic mechanisms. Better understanding these mechanisms will allow us to develop new therapeutic strategies. This commentary follows up on our recent findings that tau pathology can be found in healthy fetal tissue transplanted into the brain of patients with either Huntington or Parkinson disease. We will examine how tau appears to be shared in a number of different conditions and how its expression relates to cognitive decline and disease progression...
2018: Journal of Experimental Neuroscience
https://www.readbyqxmd.com/read/29760420/engineering-modular-intracellular-protein-sensor-actuator-devices
#20
Velia Siciliano, Breanna DiAndreth, Blandine Monel, Jacob Beal, Jin Huh, Kiera L Clayton, Liliana Wroblewska, AnneMarie McKeon, Bruce D Walker, Ron Weiss
Understanding and reshaping cellular behaviors with synthetic gene networks requires the ability to sense and respond to changes in the intracellular environment. Intracellular proteins are involved in almost all cellular processes, and thus can provide important information about changes in cellular conditions such as infections, mutations, or disease states. Here we report the design of a modular platform for intrabody-based protein sensing-actuation devices with transcriptional output triggered by detection of intracellular proteins in mammalian cells...
May 14, 2018: Nature Communications
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