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Huntington disease

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https://www.readbyqxmd.com/read/28445782/the-immunohistochemical-distribution-of-the-gabaa-receptor-%C3%AE-1-%C3%AE-2-%C3%AE-3-%C3%AE-2-3-and-%C3%AE-2-subunits-in-the-human-thalamus
#1
H J Waldvogel, M Munkle, W van Roon-Mom, H Mohler, R L M Faull
The GABAA receptor is the most abundant inhibitory receptor in the human brain and is assembled from a variety of different subunit subtypes which determines their pharmacology and physiology. To determine which GABAA receptor subunit proteins are found in the human thalamus we investigated the distribution of five major GABAA receptor subunits α1, α2, α3, β2,3 and γ2 using immunohistochemical techniques. The α1-, β2,3- and γ2- subunits which combine to form a benzodiazepine sensitive GABAA receptor showed the most intense levels of staining and were the most common subunits found throughout the human thalamus especially in the ventral and posterior nuclear groups...
April 23, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28445460/polyglutamine-tracts-regulate-beclin-1-dependent-autophagy
#2
Avraham Ashkenazi, Carla F Bento, Thomas Ricketts, Mariella Vicinanza, Farah Siddiqi, Mariana Pavel, Ferdinando Squitieri, Maarten C Hardenberg, Sara Imarisio, Fiona M Menzies, David C Rubinsztein
Nine neurodegenerative diseases are caused by expanded polyglutamine (polyQ) tracts in different proteins, such as huntingtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3). Age at onset of disease decreases with increasing polyglutamine length in these proteins and the normal length also varies. PolyQ expansions drive pathogenesis in these diseases, as isolated polyQ tracts are toxic, and an N-terminal huntingtin fragment comprising exon 1, which occurs in vivo as a result of alternative splicing, causes toxicity...
April 26, 2017: Nature
https://www.readbyqxmd.com/read/28442996/structural-characteristics-of-simple-rna-repeats-associated-with-disease-and-their-deleterious-protein-interactions
#3
REVIEW
Adam Ciesiolka, Magdalena Jazurek, Karolina Drazkowska, Wlodzimierz J Krzyzosiak
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#4
Sarah B Ohlen, Magdalena L Russell, Michael J Brownstein, Frances Lefcort
Hereditary sensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the development and long-term viability of neurons in the peripheral nervous system (PNS) and retina. FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a tissue-specific reduction of the IKAP/ELP1 protein, a subunit of the Elongator complex. Hallmarks of the disease include vasomotor and cardiovascular instability and diminished pain and temperature sensation caused by reductions in sensory and autonomic neurons...
April 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28438600/neurotrophin-receptors-in-the-pathogenesis-diagnosis-and-therapy-of-neurodegenerative-diseases
#5
REVIEW
Jacopo Meldolesi
In the last few years, exciting properties have emerged regarding the activation, signaling, mechanisms of action, and therapeutic targeting of the two types of neurotrophin receptors: the p75(NTR) with its intracellular and extracellular peptides, the Trks, their precursors and their complexes. This review summarizes these new developments, with particular focus on neurodegenerative diseases. Based on the evolving knowledge, innovative concepts have been formulated regarding the pathogenesis of these diseases, especially the Alzheimer's and two other, the Parkinson's and Huntington's diseases...
April 21, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28436572/a-randomized-double-blind-placebo-controlled-trial-evaluating-cysteamine-in-huntington-s-disease
#6
Christophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, Cyril Goizet, Jean-Philippe Azulay, Clémence Simonin, Christine Tranchant, Fabienne Calvas, Pierre Krystkowiak, Perrine Charles, Katia Youssov, Clarisse Scherer, Adriana Prundean, Audrey Olivier, Pascal Reynier, Frédéric Saudou, Patrick Maison, Philippe Allain, Erica von Studnitz, Dominique Bonneau
BACKGROUND: Cysteamine has been demonstrated as potentially effective in numerous animal models of Huntington's disease. METHODS: Ninety-six patients with early-stage Huntington's disease were randomized to 1200 mg delayed-release cysteamine bitartrate or placebo daily for 18 months. The primary end point was the change from baseline in the UHDRS Total Motor Score. A linear mixed-effects model for repeated measures was used to assess treatment effect, expressed as the least-squares mean difference of cysteamine minus placebo, with negative values indicating less deterioration relative to placebo...
April 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28436437/allele-selective-suppression-of-mutant-huntingtin-in-primary-human-blood-cells
#7
James R C Miller, Edith L Pfister, Wanzhao Liu, Ralph Andre, Ulrike Träger, Lori A Kennington, Kimberly Lo, Sipke Dijkstra, Douglas Macdonald, Gary Ostroff, Neil Aronin, Sarah J Tabrizi
Post-transcriptional gene silencing is a promising therapy for the monogenic, autosomal dominant, Huntington's disease (HD). However, wild-type huntingtin (HTT) has important cellular functions, so the ideal strategy would selectively lower mutant HTT while sparing wild-type. HD patients were genotyped for heterozygosity at three SNP sites, before phasing each SNP allele to wild-type or mutant HTT. Primary ex vivo myeloid cells were isolated from heterozygous patients and transfected with SNP-targeted siRNA, using glucan particles taken up by phagocytosis...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28431622/quantitative-biomechanical-assessment-of-trunk-control-in-huntington-s-disease-reveals-more-impairment-in-static-than-dynamic-tasks
#8
Deb A Kegelmeyer, Sandra K Kostyk, Nora E Fritz, Marianne M Fiumedora, Ajit Chaudhari, Marilly Palettas, Gregory Young, Anne D Kloos
Postural instability is common in individuals with Huntington's disease (HD), yet little is known about control of the trunk during static and dynamic activities. We compared the trunk motion of 41 individuals with HD and 36 controls at thoracic and pelvic levels during sitting, standing, and walking using wearable iPod sensors. We also examined the ability of individuals with HD to respond to an auditory cue to modify trunk position when the pelvis moved >8° in sagittal or frontal planes during sitting using custom software...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#9
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28428907/palliative-care-in-huntington-disease-personal-reflections-and-a-review-of-the-literature
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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