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https://www.readbyqxmd.com/read/28428907/palliative-care-in-huntington-disease-personal-reflections-and-a-review-of-the-literature
#1
REVIEW
Christopher G Tarolli, Amy M Chesire, Kevin M Biglan
BACKGROUND: Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, and end of life care. There is increasing evidence of the benefit of palliative care throughout the course of neurodegenerative conditions including Parkinson disease and amyotrophic lateral sclerosis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28428740/protein-quality-control-by-molecular-chaperones-in-neurodegeneration
#2
REVIEW
Aaron Ciechanover, Yong Tae Kwon
Protein homeostasis (proteostasis) requires the timely degradation of misfolded proteins and their aggregates by protein quality control (PQC), of which molecular chaperones are an essential component. Compared with other cell types, PQC in neurons is particularly challenging because they have a unique cellular structure with long extensions. Making it worse, neurons are postmitotic, i.e., cannot dilute toxic substances by division, and, thus, are highly sensitive to misfolded proteins, especially as they age...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28427989/egocentric-and-allocentric-visuospatial-working-memory-in-premotor-huntington-s-disease-a-double-dissociation-with-caudate-and-hippocampal-volumes
#3
Katherine L Possin, Hosung Kim, Michael D Geschwind, Tacie Moskowitz, Erica T Johnson, Sharon J Sha, Alexandra Apple, Duan Xu, Bruce L Miller, Steven Finkbeiner, Christopher P Hess, Joel H Kramer
Our brains represent spatial information in egocentric (self-based) or allocentric (landmark-based) coordinates. Rodent studies have demonstrated a critical role for the caudate in egocentric navigation and the hippocampus in allocentric navigation. We administered tests of egocentric and allocentric working memory to individuals with premotor Huntington's disease (pmHD), which is associated with early caudate nucleus atrophy, and controls. Each test had 80 trials during which subjects were asked to remember 2 locations over 1-sec delays...
April 17, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28424990/proteomic-analysis-of-the-hippocampus-in-mouse-models-of-trigeminal-neuralgia-and-inescapable-shock-induced-depression
#4
Qing-Huan Guo, Qing-He Tong, Ning Lu, Hong Cao, Liu Yang, Yu-Qiu Zhang
To investigate the behavioral and biomolecular similarity between neuralgia and depression, a trigeminal neuralgia (TN) mouse model was established by constriction of the infraorbital nerve (CION) to mimic clinical trigeminal neuropathic pain. A mouse learned helplessness (LH) model was developed to investigate inescapable foot-shock-induced psychiatric disorders like depression in humans. Mass spectrometry was used to assess changes in the biomolecules and signaling pathways in the hippocampus from TN or LH mice...
April 19, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28424901/driving-with-a-neurodegenerative-disorder-an-overview-of-the-current-literature
#5
REVIEW
Milou Jacobs, Ellen P Hart, Raymund A C Roos
Driving is important for employment, social activities, and for the feeling of independence. The decision to cease driving affects the quality of life and has been associated with reduced mobility, social isolation, and sadness. Patients with neurodegenerative disorders can experience difficulties while driving due to their cognitive, motor, and behavioral impairments. The aim of this review is to summarize the available literature on changes in driving competence and behavior in patients with neurodegenerative disorders, with a particular focus on Huntington's (HD), Parkinson's (PD), and Alzheimer's disease (AD)...
April 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28424652/quantitative-electroencephalographic-biomarkers-in-preclinical-and-human-studies-of-huntington-s-disease-are-they-fit-for-purpose-for-treatment-development
#6
REVIEW
Michael K Leuchter, Elissa J Donzis, Carlos Cepeda, Aimee M Hunter, Ana María Estrada-Sánchez, Ian A Cook, Michael S Levine, Andrew F Leuchter
A major focus in development of novel therapies for Huntington's disease (HD) is identification of treatments that reduce the burden of mutant huntingtin (mHTT) protein in the brain. In order to identify and test the efficacy of such therapies, it is essential to have biomarkers that are sensitive to the effects of mHTT on brain function to determine whether the intervention has been effective at preventing toxicity in target brain systems before onset of clinical symptoms. Ideally, such biomarkers should have a plausible physiologic basis for detecting the effects of mHTT, be measureable both in preclinical models and human studies, be practical to measure serially in clinical trials, and be reliably measurable in HD gene expansion carriers (HDGECs), among other features...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28424591/bcl11b-a-critical-neurodevelopmental-transcription-factor-roles-in-health-and-disease
#7
REVIEW
Matthew J Lennon, Simon P Jones, Michael D Lovelace, Gilles J Guillemin, Bruce J Brew
B cell leukemia 11b (Bcl11b) is a zinc finger protein transcription factor with a multiplicity of functions. It works as both a genetic suppressor and activator, acting directly, attaching to promoter regions, as well as indirectly, attaching to promoter-bound transcription factors. Bcl11b is a fundamental transcription factor in fetal development, with important roles for the differentiation and development of various neuronal subtypes in the central nervous system (CNS). It has been used as a specific marker of layer V subcerebral projection neurons as well as striatal interneurons...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28422761/topological-length-of-white-matter-connections-predicts-their-rate-of-atrophy-in-premanifest-huntington-s-disease
#8
Peter McColgan, Kiran K Seunarine, Sarah Gregory, Adeel Razi, Marina Papoutsi, Jeffrey D Long, James A Mills, Eileanoir Johnson, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Julie C Stout, Rachael I Scahill, Chris A Clark, Geraint Rees, Sarah J Tabrizi, The Track-On Hd Investigators
We lack a mechanistic explanation for the stereotyped pattern of white matter loss seen in Huntington's disease (HD). While the earliest white matter changes are seen around the striatum, within the corpus callosum, and in the posterior white matter tracts, the order in which these changes occur and why these white matter connections are specifically vulnerable is unclear. Here, we use diffusion tractography in a longitudinal cohort of individuals yet to develop clinical symptoms of HD to identify a hierarchy of vulnerability, where the topological length of white matter connections between a brain area and its neighbors predicts the rate of atrophy over 24 months...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28421887/preferences-for-the-return-of-individual-results-from-research-on-pediatric-biobank-samples
#9
Kurt D Christensen, Sarah K Savage, Noelle L Huntington, Elissa R Weitzman, Sonja I Ziniel, Phoebe L Bacon, Cara N Cacioppo, Robert C Green, Ingrid A Holm
Discussions about disclosing individual genetic research results include calls to consider participants' preferences. In this study, parents of Boston Children's Hospital patients set preferences for disclosure based on disease preventability and severity, and could exclude mental health, developmental, childhood degenerative, and adult-onset disorders. Participants reviewed hypothetical reports and reset preferences, if desired. Among 661 participants who initially wanted all results (64%), 1% reset preferences...
April 2017: Journal of Empirical Research on Human Research Ethics: JERHRE
https://www.readbyqxmd.com/read/28418951/putaminal-hypometabolism-exceeding-caudate-abnormalities-on-18f-fdg-pet-in-huntington-disease
#10
Tarun Singhal, Chun K Kim
An F-FDG PET scan performed on a patient suspected of having early Huntington disease (HD) showed marked hypometabolism in bilateral putamen that was significantly worse than the hypometabolism in caudate. While HD could not be completely excluded, the scan finding was felt to be somewhat atypical for HD because of a lesser degree of caudate involvement. Genetic testing eventually confirmed the diagnosis of HD. This case shows that diagnosis of HD should still be considered even when putaminal hypometabolism exceeds caudate changes on F-FDG PET imaging...
April 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28414223/diversity-oriented-stapling-yields-intrinsically-cell-penetrant-inducers-of-autophagy
#11
Leila Peraro, Zhongju Zou, Kamlesh M Makwana, Ashleigh Cummings, Haydn L Ball, Hongtao Yu, Yu-Shan Lin, Beth Levine, Joshua A Kritzer
Autophagy is an essential pathway by which cellular and foreign material are degraded and recycled in eukaryotic cells. Induction of autophagy is a promising approach for treating diverse human diseases, including neurodegenerative disorders and infectious diseases. Here, we report the use of a diversity-oriented stapling approach to produce autophagy-inducing peptides that are intrinsically cell-penetrant. These peptides induce autophagy at micromolar concentrations in vitro, have aggregate-clearing activity in a cellular model of Huntington's disease, and induce autophagy in vivo...
April 17, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28413881/molecular-mechanism-on-stabilizing-huntingtin-n17-helical-structure-in-micelle-environment
#12
Leili Zhang, Hongsuk Kang, Francisco X Vázquez, Leticia Marisel Toledo-Sherman, Binquan Luan, Ruhong Zhou
Huntington's disease is a deadly neurodegenerative disease caused by the fibrilization of huntingtin (HTT) exon-1 protein mutants. Despite extensive efforts over the past decade, much remains unknown about the structures of (mutant) HTT exon-1 and their enigmatic roles in aggregation. Particularly, whether the first 17 residues in the N-terminal (HTT-N17) adopt a helical or a coiled structure remains unclear. Here, with the rigorous study of molecular dynamics simulations, we explored the most possible structures of HTT-N17 in both dodecylphosphocholine (DPC) micelles and aqueous solution, using three commonly applied force fields (OPLS-AA/L, CHARMM36 and AMBER99sb*-ILDNP) to examine the underlying molecular mechanism and rule out the potential artifacts...
April 17, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28413688/presentation-and-care-of-a-family-with-huntington-disease-in-a-resource-limited-community
#13
Jarmal Charles, Lindyann Lessey, Jennifer Rooney, Ingmar Prokop, Katherine Yearwood, Hazel Da Breo, Patrick Rooney, Ruth H Walker, Andrew K Sobering
BACKGROUND: In high-income countries patients with Huntington disease (HD) typically present to healthcare providers after developing involuntary movements, or for pre-symptomatic genetic testing if at familial risk. A positive family history is a major guide when considering the decision to perform genetic testing for HD, both in affected and unaffected patients. Management of HD is focused upon control of symptoms, whether motor, cognitive, or psychiatric. There is no clear evidence to date of any disease-modifying agents...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28413470/identification-of-genes-associated-with-the-effect-of-inflammation-on-the-neurotransmission-of-vascular-smooth-muscle-cell
#14
Shujie Gan, Shenlong Qiu, Yiwen Feng, Yanping Zhang, Qin Qian, Zhong Wan, Jingdong Tang
Vascular smooth muscle cell (VSMC) accumulation and hypertrophy are common in vascular disorders, and inflammation has a crucial role in the development of these diseases. To investigate the effect of inflammation on the neurotransmission of VSMC, bioinformatic analysis was performed, following next generation sequencing. Genes of lipopolysaccharide (LPS)-treated A7r5 cells and phosphate-buffered saline (PBS)-treated A7r5 cells were sequenced via next generation sequencing, and each assay was repeated three times...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28412919/neurological-disorders-in-medical-use-of-cannabis-an-update
#15
Renata Solimini, Maria Concetta Rotolo, Simona Pichini, Roberta Pacifici
Medical cannabis is increasingly used as a treatment or adjunct treatment with different levels of efficacy in several neurological disorders or related symptoms (such as multiple sclerosis, autism, Parkinson and Alzheimer disease, Tourette's syndrome, Huntington's disease, neuropathic pain, epilepsy, headache), as well as in other medical conditions (e.g. nausea and vomiting, glaucoma, appetite stimulation, cancer, inflammatory conditions, asthma). Nevertheless, a number of neurological adverse effects from use of medical cannabis on the short- and on the long- term have been reported, in addition to other adverse health events...
April 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28412918/neurological-aspects-of-medical-use-of-cannabidiol
#16
Carmen Mannucci, Michele Navarra, Fabrizio Calapai, Elvira Ventura Spagnolo, Francesco Paolo Busardò, Roberto Da Cas, Francesca Menniti Ippolito, Gioacchino Calapai
BACKGROUND: Cannabidiol (CBD) is among the major secondary metabolites of Cannabis devoid of the delta-9-tetra-hydrocannabinol psychoactive effects. It is a resorcinol-based compound with a broad spectrum of potential therapeutic properties, including neuroprotective effects in numerous pathological conditions. CBD neuroprotection is due to its antioxidant and antiinflammatory activi-ties and the modulation of a large number of brain biological targets (receptors, channels) involved in the development and maintenance of neurodegenerative diseases...
April 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28412438/torsional-stress-promotes-trinucleotidic-expansion-in-spermatids
#17
Olivier Simard, Seyedeh Raheleh Niavarani, Virginie Gaudreault, Guylain Boissonneault
Trinucleotide repeats are involved in various neurodegenerative diseases and are highly unstable both in dividing or non-dividing cells. In Huntington disease (HD), the age of onset of symptoms is inversely correlated to the number of CAG repeats within exon 1 of the HTT gene. HD shows paternal anticipation as CAG repeats are increased during spermatogenesis. CAG expansion were indeed found to be generated during the chromatin remodeling in spermatids where most histones are evicted and replaced by protamines...
April 9, 2017: Mutation Research
https://www.readbyqxmd.com/read/28411118/regulation-of-motor-proteins-axonal-transport-deficits-and-adult-onset-neurodegenerative-diseases
#18
REVIEW
Scott T Brady, Gerardo A Morfini
Neurons affected in a wide variety of unrelated adult-onset neurodegenerative diseases (AONDs) typically exhibit a "dying back" pattern of degeneration, which is characterized by early deficits in synaptic function and neuritic pathology long before neuronal cell death. Consistent with this observation, multiple unrelated AONDs including Alzheimer's disease, Parkinson's disease, Huntington's disease, and several motor neuron diseases feature early alterations in kinase-based signaling pathways associated with deficits in axonal transport (AT), a complex cellular process involving multiple intracellular trafficking events powered by microtubule-based motor proteins...
April 11, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28408478/antagonistic-roles-for-styx-pseudophosphatases-in-neurite-outgrowth
#19
REVIEW
Arya Dahal, Shantá D Hinton
Mitogen-activated protein kinases (MAPKs) are essential players in important neuronal signaling pathways including neuronal development, plasticity, survival, learning, and memory. The inactivation of MAPKs is tightly controlled by MAPK phosphatases (MKPs), which also are important regulators of these neuronal processes. Considering that MAPKs and MKPs are major players in neuronal signaling, it follows that their misregulation is pivotal in neurodegenerative diseases such as Alzheimer's, Huntington's, Parkinson's, and amyotrophic lateral sclerosis...
April 15, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/28406926/high-resolution-respirometry-of-fine-needle-muscle-biopsies-in-pre-manifest-huntington-s-disease-expansion-mutation-carriers-shows-normal-mitochondrial-respiratory-function
#20
Eva Buck, Martina Zügel, Uwe Schumann, Tamara Merz, Anja M Gumpp, Anke Witting, Jürgen M Steinacker, G Bernhard Landwehrmeyer, Patrick Weydt, Enrico Calzia, Katrin S Lindenberg
Alterations in mitochondrial respiration are an important hallmark of Huntington's disease (HD), one of the most common monogenetic causes of neurodegeneration. The ubiquitous expression of the disease causing mutant huntingtin gene raises the prospect that mitochondrial respiratory deficits can be detected in skeletal muscle. While this tissue is readily accessible in humans, transgenic animal models offer the opportunity to cross-validate findings and allow for comparisons across organs, including the brain...
2017: PloS One
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