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https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#1
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28323838/bupropion-for-the-treatment-of-apathy-in-huntington-s-disease-a-multicenter-randomised-double-blind-placebo-controlled-prospective-crossover-trial
#2
Harald Gelderblom, Torsten Wüstenberg, Tim McLean, Lisanne Mütze, Wilhelm Fischer, Carsten Saft, Rainer Hoffmann, Sigurd Süssmuth, Peter Schlattmann, Erik van Duijn, Bernhard Landwehrmeyer, Josef Priller
OBJECTIVE: To evaluate the efficacy and safety of bupropion in the treatment of apathy in Huntington's disease (HD). METHODS: In this phase 2b multicentre, double-blind, placebo-controlled crossover trial, individuals with HD and clinical signs of apathy according to the Structured Clinical Interview for Apathy-Dementia (SCIA-D), but not depression (n = 40) were randomized to receive either bupropion 150/300mg or placebo daily for 10 weeks. The primary outcome parameter was a significant change of the Apathy Evaluation Scale (AES) score after ten weeks of treatment as judged by an informant (AES-I) living in close proximity with the study participant...
2017: PloS One
https://www.readbyqxmd.com/read/28322842/simultaneous-blockade-of-nmda-receptors-and-parp-1-activity-synergistically-alleviate-immunoexcitotoxicity-and-bioenergetics-in-3-nitropropionic-acid-intoxicated-mice-evidences-from-memantine-and-3-aminobenzamide-interventions
#3
Saravana Babu Chidambaram, Ranju Vijayan, Sathiya Sekar, Sugumar Mani, Barathidsan Rajamani, Ramakrishnan Ganapathy
Interlink between excitotoxicity and cellular bioenergetics depletion is implicated as one of the central deteriorative pathways in many neurodegenerative diseases including Huntington's disease (HD). Chronic administration of 3-nitropropionic acid (3-NP) depletes ATP and NAD(+;) and increases TNFα, IL-6 and glutamate content resulting in "immunoexcitotoxicity". Present study was designed to determine whether the combination of memantine (MN) and 3-aminobenzamide (3-AB), PARP inhibitor, can ameliorate immunoexcitotoxicity and improve bioenergetics in a better manner than individual administration against 3-NP intoxication in mice...
March 16, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28322591/insight-into-the-structural-requirements-of-pyrimidine-based-phosphodiesterase-10a-pde10a-inhibitors-by-multiple-validated-3d-qsar-approaches
#4
A K Halder, S A Amin, T Jha, S Gayen
Schizophrenia is a complex disorder of thinking and behaviour (0.3-0.7% of the population is affected). The over-expression of phosphodiesterase 10A (PDE10A) enzyme may be a potential target for schizophrenia and Huntington's disease. Because 3D QSAR analysis is one of the most frequently used modelling techniques, in the present study, five different 3D QSAR tools, namely CoMFA, CoMSIA, kNN-MFA, Open3DQSAR and topomer CoMFA methods, were used on a dataset of pyrimidine-based PDE10A inhibitors. All developed models were validated internally and externally...
March 21, 2017: SAR and QSAR in Environmental Research
https://www.readbyqxmd.com/read/28322270/huntington-s-disease-blood-and-brain-show-a-common-gene-expression-pattern-and-share-an-immune-signature-with-alzheimer-s-disease
#5
Davina J Hensman Moss, Michael D Flower, Kitty K Lo, James R C Miller, Gert-Jan B van Ommen, Peter A C 't Hoen, Timothy C Stone, Amelia Guinee, Douglas R Langbehn, Lesley Jones, Vincent Plagnol, Willeke M C van Roon-Mom, Peter Holmans, Sarah J Tabrizi
There is widespread transcriptional dysregulation in Huntington's disease (HD) brain, but analysis is inevitably limited by advanced disease and postmortem changes. However, mutant HTT is ubiquitously expressed and acts systemically, meaning blood, which is readily available and contains cells that are dysfunctional in HD, could act as a surrogate for brain tissue. We conducted an RNA-Seq transcriptomic analysis using whole blood from two HD cohorts, and performed gene set enrichment analysis using public databases and weighted correlation network analysis modules from HD and control brain datasets...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28320296/biological-basis-for-amyloidogenesis-in-alzheimer-s-disease
#6
REVIEW
T V Andreeva, W J Lukiw, E I Rogaev
Certain cellular proteins normally soluble in the living organism under certain conditions form aggregates with a specific cross-β sheet structure called amyloid. These intra- or extracellular insoluble aggregates (fibers or plaques) are hallmarks of many neurodegenerative pathologies including Alzheimer's disease (AD), Huntington's disease, Parkinson's disease, prion disease, and other progressive neurological diseases that develop in the aging human central nervous system. Amyloid diseases (amyloidoses) are widespread in the elderly human population, a rapidly expanding demographic in many global populations...
February 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28319609/developmental-alterations-in-huntington-s-disease-neural-cells-and-pharmacological-rescue-in-cells-and-mice
#7
(no author information available yet)
Neural cultures derived from Huntington's disease (HD) patient-derived induced pluripotent stem cells were used for 'omics' analyses to identify mechanisms underlying neurodegeneration. RNA-seq analysis identified genes in glutamate and GABA signaling, axonal guidance and calcium influx whose expression was decreased in HD cultures. One-third of gene changes were in pathways regulating neuronal development and maturation. When mapped to stages of mouse striatal development, the profiles aligned with earlier embryonic stages of neuronal differentiation...
March 20, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28317317/the-neuroprotective-effects-of-caffeine-in-neurodegenerative-diseases
#8
REVIEW
Mahshad Kolahdouzan, Mazen J Hamadeh
Caffeine is the most widely used psychostimulant in Western countries, with antioxidant, anti-inflammatory and anti-apoptotic properties. In Alzheimer's disease (AD), caffeine is beneficial in both men and women, in humans and animals. Similar effects of caffeine were observed in men with Parkinson's disease (PD); however, the effect of caffeine in female PD patients is controversial due to caffeine's competition with estrogen for the estrogen-metabolizing enzyme, CYP1A2. Studies conducted in animal models of amyotrophic lateral sclerosis (ALS) showed protective effects of A2A R antagonism...
April 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28316031/transactivation-domain-of-human-c-myc-is-essential-to-alleviate-poly-q-mediated-neurotoxicity-in-drosophila-disease-models
#9
Kritika Raj, Surajit Sarkar
Polyglutamine (poly(Q)) disorders, such as Huntington's disease (HD) and spinocerebellar ataxias, represent a group of neurological disorders which arise due to an atypically expanded poly(Q) tract in the coding region of the affected gene. Pathogenesis of these disorders inside the cells begins with the assembly of these mutant proteins in the form of insoluble inclusion bodies (IBs), which progressively sequester several vital cellular transcription factors and other essential proteins, and finally leads to neuronal dysfunction and apoptosis...
March 18, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28315610/sensory-processing-in-huntington-s-disease
#10
Ana Mirallave, Merche Morales, Christopher Cabib, Esteban J Muñoz, Pilar Santacruz, Xavier Gasull, Josep Valls-Sole
OBJECTIVE: An intriguing electrophysiological feature of patients with Huntington's disease (HD) is the delayed latency and decreased amplitude of somatosensory long-latency evoked potentials (LLeps). We investigated whether such dysfunction was associated with delayed conscious perception of the sensory stimulus. METHODS: Sixteen HD patients and 16 control subjects faced a computer screen showing the Libet's clock (Libet et al., 1983). In Rest trials, subjects had to memorize the position of the clock handle at perception of either electrical or thermal stimuli (AW)...
February 14, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28315271/role-of-sigma-1-receptor-in-cocaine-abuse-and-neurodegenerative-disease
#11
Yu Cai, Lu Yang, Fang Niu, Ke Liao, Shilpa Buch
Sigma-1 receptors (Sig-1R) are recognized as a unique class of non-G protein-coupled intracellular protein. Sig-1R binds to its ligand such as cocaine , resulting in dissociation of Sig-1R from mitochondrion-associated ER membrane (MAM) to the endoplasmic reticulum (ER), plasma membrane, and nuclear membrane, regulating function of various proteins. Sig-1R has diverse roles in both physiological as well as in pathogenic processes. The disruption of Sig-1R pathways has been implicated as causative mechanism(s) in the development of both neurodegenerative disorders such as Alzheimer disease (AD ), Parkinson disease (PD ), amyotrophic lateral sclerosis (ALS ) and Huntington Disease (HD ) ...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28304313/the-effect-of-music-therapy-in-patients-with-huntington-s-disease-a-randomized-controlled-trial
#12
Monique C H van Bruggen-Rufi, Annemieke C Vink, Ron Wolterbeek, Wilco P Achterberg, Raymund A C Roos
BACKGROUND: Music therapy may have beneficial effects on improving communication and expressive skills in patients with Huntington's disease (HD). Most studies are, however, small observational studies and methodologically limited. Therefore we conducted a multi-center randomized controlled trial. OBJECTIVE: To determine the efficacy of music therapy in comparison with recreational therapy in improving quality of life of patients with advanced Huntington's disease by means of improving communication...
March 15, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28303108/transcriptional-signature-of-an-altered-purine-metabolism-in-the-skeletal-muscle-of-a-huntington-s-disease-mouse-model
#13
Michal Mielcarek, Ryszard T Smolenski, Mark Isalan
Huntington's disease (HD) is a fatal neurodegenerative disorder, caused by a polyglutamine expansion in the huntingtin protein (HTT). HD has a peripheral component to its pathology: skeletal muscles are severely affected, leading to atrophy, and malfunction in both pre-clinical and clinical settings. We previously used two symptomatic HD mouse models to demonstrate the impairment of the contractile characteristics of the hind limb muscles, which was accompanied by a significant loss of function of motor units...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28302400/substrate-and-inhibitor-specificity-of-kynurenine-monooxygenase-from-cytophaga-hutchinsonii
#14
Robert S Phillips, Andrew D Anderson, Harvey G Gentry, Osman F Güner, J Phillip Bowen
Kynurenine monooxygenase (KMO) is a potential drug target for treatment of neurodegenerative disorders such as Huntington's and Alzheimer's diseases. We have evaluated substituted kynurenines as substrates or inhibitors of KMO from Cytophaga hutchinsonii. Kynurenines substituted with a halogen at the 5-position are excellent substrates, with values of kcat and kcat/Km comparable to or higher than kynurenine. However, kynurenines substituted in the 3-position are competitive inhibitors, with KI values lower than the Km for kynurenine...
March 4, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28300621/acute-exposure-to-chlorpyrifos-caused-nadph-oxidase-mediated-oxidative-stress-and-neurotoxicity-in-a-striatal-cell-model-of-huntington-s-disease
#15
Gifty A Dominah, Rachael A McMinimy, Sallay Kallon, Gunnar F Kwakye
We hypothesized that expression of mutant Huntingtin (HTT) would modulate the neurotoxicity of the commonly used organophosphate insecticide, chlorpyrifos (CPF), revealing cellular mechanisms underlying neurodegeneration. Using a mouse striatal cell model of HD, we report that mutant HD cells are more susceptible to CPF-induced cytotoxicity as compared to wild-type. This CPF-induced cytotoxicity caused increased production of reactive oxygen species, reduced glutathione levels, decreased superoxide dismutase activity, and increased malondialdehyde levels in mutant HD cells relative to wild-type...
March 11, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28299593/trehalose-and-magnesium-chloride-exert-a-common-anti-amyloidogenic-effect-towards-hen-egg-white-lysozyme
#16
Rupsa Chatterjee, Vidyalatha Kolli, Nandini Sarkar
Many degenerative disorder such as Parkinsons, Alzheimers, Huntingtons disease, etc are caused due to the deposition of amyloid fibrils, formed due to the ordered aggregation of misfolded/unfolded proteins. Misfolded or unfolded proteins aggregate mostly through hydrophobic interactions which are unexposed in native state, but become exposed upon unfolding. To counteract amyloid related diseases, inhibition of the protein self assembly into fibril is a potential therapeutic strategy. The study aims at investigating the effect of selected compounds, namely trehalose and magnesium chloride hexahydrate towards inhibition and disaggregation of amyloid fibrils using Hen Egg White Lysozyme as a model...
March 16, 2017: Protein Journal
https://www.readbyqxmd.com/read/28296213/action-semantic-and-syntactic-deficits-in-subjects-at-risk-for-huntington-s-disease
#17
Adolfo M García, Yamile Bocanegra, Eduar Herrera, Mariana Pino, Edinson Muñoz, Lucas Sedeño, Agustín Ibáñez
Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. Indeed, their atrophy distinctively disrupts both domains, as observed in patients with Huntington's disease (HD) and Parkinson's disease, even during early disease stages. However, frontostriatal degeneration in these conditions may begin up to 15 years before the onset of clinical symptoms, opening avenues for pre-clinical detection via sensitive tasks. Such a mission is particularly critical in HD, given that patients' children have 50% chances of inheriting the disease...
March 11, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28294929/-written-advance-euthanasia-directives-in-mentally-incompetent-patients-with-dementia-a-systematic-review-of-the-literature
#18
K de Nooijer, V E van de Wetering, E C T Geijteman, L Postma, J A C Rietjens, A van der Heide
OBJECTIVE: To present the knowledge, experiences and attitudes of the general population, patients, relatives and health care professionals concerning written advance euthanasia directives in patients who have become mentally incompetent. DESIGN: Systematic review of the literature. METHOD: We systematically searched Medline, Cochrane Library and Embase for articles published in the period 2002-2016. RESULTS: The search yielded 775 articles, of which 11 met the inclusion criteria...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28294457/structural-and-functional-brain-network-correlates-of-depressive-symptoms-in-premanifest-huntington-s-disease
#19
Peter McColgan, Adeel Razi, Sarah Gregory, Kiran K Seunarine, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Rachael I Scahill, Chris A Clark, Doug R Langbehn, Geraint Rees, Sarah J Tabrizi
Depression is common in premanifest Huntington's disease (preHD) and results in significant morbidity. We sought to examine how variations in structural and functional brain networks relate to depressive symptoms in premanifest HD and healthy controls. Brain networks were constructed using diffusion tractography (70 preHD and 81 controls) and resting state fMRI (92 preHD and 94 controls) data. A sub-network associated with depression was identified in a data-driven fashion and network-based statistics was used to investigate which specific connections correlated with depression scores...
March 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28293168/modeling-human-neurological-and-neurodegenerative-diseases-from-induced-pluripotent-stem-cells-to-neuronal-differentiation-and-its-applications-in-neurotrauma
#20
REVIEW
Hisham Bahmad, Ola Hadadeh, Farah Chamaa, Katia Cheaito, Batoul Darwish, Ahmad-Kareem Makkawi, Wassim Abou-Kheir
With the help of several inducing factors, somatic cells can be reprogrammed to become induced pluripotent stem cell (iPSCs) lines. The success is in obtaining iPSCs almost identical to embryonic stem cells (ESCs), therefore various approaches have been tested and ultimately several ones have succeeded. The importance of these cells is in how they serve as models to unveil the molecular pathways and mechanisms underlying several human diseases, and also in its potential roles in the development of regenerative medicine...
2017: Frontiers in Molecular Neuroscience
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