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Huntington's disease

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https://www.readbyqxmd.com/read/29143208/a-new-measure-for-end-of-life-planning-preparation-and-preferences-in-huntington-disease-hdqlife-end-of-life-planning
#1
Noelle E Carlozzi, E A Hahn, S A Frank, J S Perlmutter, N D Downing, M K McCormack, S Barton, M A Nance, S G Schilling
BACKGROUND: Huntington disease is a fatal inherited neurodegenerative disease. Because the end result of Huntington disease is death due to Huntington disease-related causes, there is a need for better understanding and caring for individuals at their end of life. AIM: The purpose of this study was to develop a new measure to evaluate end of life planning. DESIGN: We conducted qualitative focus groups, solicited expert input, and completed a literature review to develop a 16-item measure to evaluate important aspects of end of life planning for Huntington disease...
November 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29142089/motor-cognitive-and-functional-declines-contribute-to-a-single-progressive-factor-in-early-hd
#2
Scott A Schobel, Giuseppe Palermo, Peggy Auinger, Jeffrey D Long, Shiyang Ma, Omar S Khwaja, Dylan Trundell, Merit Cudkowicz, Steven Hersch, Cristina Sampaio, E Ray Dorsey, Blair R Leavitt, Karl D Kieburtz, Jeffrey J Sevigny, Douglas R Langbehn, Sarah J Tabrizi
OBJECTIVE: To identify an improved measure of clinical progression in early Huntington disease (HD) using data from prospective observational cohort studies and placebo group data from randomized double-blind clinical trials. METHODS: We studied Unified Huntington Disease Rating Scale (UHDRS) and non-UHDRS clinical measures and brain measures of progressive atrophy in 1,668 individuals with early HD followed up prospectively for up to 30 to 36 months of longitudinal clinical follow-up...
November 15, 2017: Neurology
https://www.readbyqxmd.com/read/29139332/the-views-of-adults-with-huntington-s-disease-on-assisted-dying-a-qualitative-exploration
#3
Laurence Regan, Nancy J Preston, Fiona J R Eccles, Jane Simpson
BACKGROUND: Assisted dying is frequently debated publicly and research often includes the views of health professionals on this issue. However, the views of people with life-limiting conditions, for whom this issue is likely to have a different resonance, are less well represented. AIM: The purpose of this study was to explore the views of people who live with the inevitability of developing Huntington's disease, a genetically transmitted disease which significantly limits life, on assisted dying...
November 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/29137922/extracellular-vesicles-in-neurodegenerative-diseases
#4
REVIEW
Tommaso Croese, Roberto Furlan
Extracellular vesicles (EVs) are released by all neural cells, including neurons, oligodendrocytes, astrocytes, and microglia. The lack of adequate technology has not halted neuroscientists from investigating EVs as a mean to decipher neurodegenerative disorders, still in search of comprehensible pathogenic mechanisms and efficient treatment. EVs are thought to be one of ways neurodegenerative pathologies spread in the brain, but also one of the ways the brain tries to displace toxic proteins, making their meaning in pathogenesis uncertain...
November 11, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/29134957/hunting-for-the-mutant-without-the-map-k
#5
Leon Tejwani, Janghoo Lim
In a paper recently published in Cell Research, Yu et al. identify two MAPK-related kinases, MAPK11 and HIPK3, as positive regulators of levels of mutant huntingtin protein, a toxic species highly involved in Huntington's disease (HD) pathology. The identification and validation of these kinases as therapeutic targets for knockdown in multiple relevant experimental model systems reveal novel potential approaches for treatment of HD.
November 14, 2017: Cell Research
https://www.readbyqxmd.com/read/29134321/co-occurrence-of-mixed-proteinopathies-in-late-stage-huntington-s-disease
#6
Isabelle St-Amour, Andréanne Turgeon, Claudia Goupil, Emmanuel Planel, Sébastien S Hébert
Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD). Huntington's disease (HD) is an inherited NDD caused by autosomal-dominant expanded CAG trinucleotide repeat mutation in the gene coding for Huntingtin (Htt). Previous studies have suggested the coexistence of phosphorylated-Tau, α-synuclein (α-Syn) and TAR DNA-binding protein 43 (TDP-43) inclusions in HD. However, definite evidence that HD pathology in humans can be accompanied by other proteinopathies is still lacking...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29133694/manganese-in-manganism-parkinson-s-disease-huntington-s-disease-amyotrophic-lateral-sclerosis-and-batten-disease-a-narrative-review
#7
REVIEW
Owen Proudfoot
The collective evidence to date suggests that environmental exposure to excessive amounts of manganese (Mn) can cause a neurodegenerative condition known as manganism. It is now also relatively clear that Mn is involved in the pathogenesis of Alzheimer's disease and at least some prion diseases. The potential involvement of Mn in a panel of other neurodegenerative conditions including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease has been suggested and investigated, but the results to date are somewhat inconclusive...
November 2017: Neurology India
https://www.readbyqxmd.com/read/29131091/apathy-profile-in-parkinson-s-and-huntington-s-disease-a-comparative-cross-sectional-study
#8
Mário Sousa, Fradique Moreira, Joana Jesus-Ribeiro, Inês Marques, Flávia Cunha, Nádia Canário, António Freire, Cristina Januário
BACKGROUND/AIMS: Apathy is one of the most frequent, disabling and difficult-to-treat symptoms that show up in many neurodegenerative disorders. The aim of this study was to assess and compare apathy profile in Parkinson's and Huntington's patients using the same comprehensive instruments to measure apathy, cognition and depressive symptoms. MATERIALS AND METHODS: We consecutively assessed Parkinson's disease (PD) and Huntington's disease (HD) patients recruited from a Movement Disorders Unit...
November 13, 2017: European Neurology
https://www.readbyqxmd.com/read/29130504/mass-spectrometry-based-metabolomics-targeting-the-crosstalk-between-gut-microbiota-and-brain-in-neurodegenerative-disorders
#9
REVIEW
Hemi Luan, Xian Wang, Zongwei Cai
Metabolomics seeks to take a "snapshot" in a time of the levels, activities, regulation and interactions of all small molecule metabolites in response to a biological system with genetic or environmental changes. The emerging development in mass spectrometry technologies has shown promise in the discovery and quantitation of neuroactive small molecule metabolites associated with gut microbiota and brain. Significant progress has been made recently in the characterization of intermediate role of small molecule metabolites linked to neural development and neurodegenerative disorder, showing its potential in understanding the crosstalk between gut microbiota and the host brain...
November 12, 2017: Mass Spectrometry Reviews
https://www.readbyqxmd.com/read/29130397/hipk3-modulates-autophagy-and-htt-protein-levels-in-neuronal-and-mouse-models-of-huntington-disease
#10
Yuhua Fu, Xiaoli Sun, Boxun Lu
Macroautophagy/autophagy is an important cellular protein quality control process that clears intracellular aggregate-prone proteins. These proteins may cause neurodegenerative disorders such as Huntington disease (HD), which is mainly caused by the cytotoxicity of the mutant HTT/Hdh protein (mHTT). Thus, autophagy modulators may regulate mHTT levels and provide potential drug targets for HD and similar diseases. Meanwhile, autophagy function is also impaired in HD and other neurodegenerative disorders via unknown mechanisms...
November 13, 2017: Autophagy
https://www.readbyqxmd.com/read/29129747/mitochondrial-sirt3-and-neurodegenerative-brain-disorders
#11
REVIEW
Anamika, Archita Khanna, Papia Acharjee, Arup Acharjee, Surendra Kumar Trigun
Sirtuins are highly conserved NAD(+) dependent class III histone deacetylases and catalyze deacetylation and ADP ribosylation of a number of non-histone proteins. Since, they require NAD(+) for their activity, the cellular level of Sirtuins represents redox status of the cells and thereby serves as bona fide metabolic stress sensors. Out of seven homologues of Sirtuins identified in mammals, SIRT3, 4 & 5 have been found to be localized and active in mitochondria. During recent past, clusters of protein substrates for SIRT3 have been identified in mitochondria and thereby advocating SIRT3 as the main mitochondrial Sirtuin which could be involved in protecting stress induced mitochondrial integrity and energy metabolism...
November 9, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/29128164/grey-matter-volume-loss-is-associated-with-specific-clinical-motor-signs-in-huntington-s-disease
#12
Emma M Coppen, Milou Jacobs, Annette A van den Berg-Huysmans, Jeroen van der Grond, Raymund A C Roos
BACKGROUND: Motor disturbances are clinical hallmarks of Huntington's disease (HD) and involve chorea, dystonia, hypokinesia and visuomotor dysfunction. Investigating the association between specific motor signs and different regional volumes is important to understand the heterogeneity of HD. OBJECTIVE: To investigate the motor phenotype of HD and associations with subcortical and cortical grey matter volume loss. METHODS: Structural T1-weighted MRI scans of 79 HD patients and 30 healthy controls were used to calculate volumes of seven subcortical structures including the nucleus accumbens, hippocampus, thalamus, caudate nucleus, putamen, pallidum and amygdala...
November 2, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29127484/progress-in-developing-transgenic-monkey-model-for-huntington-s-disease
#13
REVIEW
Brooke R Snyder, Anthony W S Chan
Huntington's disease (HD) is a complex neurodegenerative disorder that has no cure. Although treatments can often be given to relieve symptoms, the neuropathology associated with HD cannot be stopped or reversed. HD is characterized by degeneration of the striatum and associated pathways that leads to impairment in motor and cognitive functions as well as psychiatric disturbances. Although cell and rodent models for HD exist, longitudinal study in a transgenic HD nonhuman primate (i.e., rhesus macaque; HD monkeys) shows high similarity in its progression with human patients...
November 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29125980/molecular-insights-into-cortico-striatal-miscommunications-in-huntington-s-disease
#14
REVIEW
Matthew B Veldman, X William Yang
Huntington's disease (HD), a dominantly inherited neurodegenerative disease, is defined by its genetic cause, a CAG-repeat expansion in the HTT gene, its motor and psychiatric symptomology and primary loss of striatal medium spiny neurons (MSNs). However, the molecular mechanisms from genetic lesion to disease phenotype remain largely unclear. Mouse models of HD have been created that exhibit phenotypes partially recapitulating those in the patient, and specifically, cortico-striatal disconnectivity appears to be a shared pathogenic event shared by HD mouse models and patients...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29125493/validation-of-ultrasensitive-mutant-huntingtin-detection-in-human-cerebrospinal-fluid-by-single-molecule-counting-immunoassay
#15
Valentina Fodale, Roberto Boggio, Manuel Daldin, Cristina Cariulo, Maria Carolina Spiezia, Lauren Mary Byrne, Blair R Leavitt, Edward Wild, Douglas Macdonald, Andreas Weiss, Alberto Bresciani
BACKGROUND: The measurement of disease-relevant biomarkers has become a major component of clinical trial design, but in the absence of rigorous clinical and analytical validation of detection methodology, interpretation of results may be misleading. In Huntington's disease (HD), measurement of the concentration of mutant huntingtin protein (mHTT) in cerebrospinal fluid (CSF) of patients may serve as both a disease progression biomarker and a pharmacodynamic readout for HTT-lowering therapeutic approaches...
November 9, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29125492/towards-an-understanding-of-energy-impairment-in-huntington-s-disease-brain
#16
Janet M Dubinsky
This review systematically examines the evidence for shifts in flux through energy generating biochemical pathways in Huntington's disease (HD) brains from humans and model systems. Compromise of the electron transport chain (ETC) appears not to be the primary or earliest metabolic change in HD pathogenesis. Rather, compromise of glucose uptake facilitates glucose flux through glycolysis and may possibly decrease flux through the pentose phosphate pathway (PPP), limiting subsequent NADPH and GSH production needed for antioxidant protection...
November 9, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/29121340/hace1-is-essential-for-astrocyte-mitochondrial-function-and-influences-huntington-disease-phenotypes-in-vivo
#17
Dagmar E Ehrnhoefer, Amber L Southwell, Meenalochani Sivasubramanian, Xiaofan Qiu, Erika B Villanueva, Yuanyun Xie, Sabine Waltl, Lisa Anderson, Anita Fazeli, Lorenzo Casal, Boguslaw Felczak, Michelle Tsang, Michael R Hayden
Oxidative stress is a prominent feature of Huntington disease (HD), and we have shown previously that reduced levels of HACE1 (HECT domain and Ankyrin repeat containing E3 ubiquitin protein ligase 1) in patient striatum may contribute to the pathogenesis of HD. HACE1 promotes the stability of Nrf2 and thus plays an important role in antioxidant response mechanisms, which are dysfunctional in HD. Moreover, HACE1 overexpression mitigates mutant huntingtin-induced oxidative stress in vitro through promotion of the Nrf2 antioxidant response...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29114205/biometal-dyshomeostasis-and-toxic-metal-accumulations-in-the-development-of-alzheimer-s-disease
#18
REVIEW
Yong Li, Qian Jiao, Huamin Xu, Xixun Du, Limin Shi, Fengju Jia, Hong Jiang
Biometal dyshomeostasis and toxic metal accumulation are common features in many neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease, and Huntington's disease. The neurotoxic effects of metal imbalance are generally associated with reduced enzymatic activities, elevated protein aggregation and oxidative stress in the central nervous system, in which a cascade of events lead to cell death and neurodegeneration. Although the links between biometal imbalance and neurodegenerative disorders remain elusive, a major class of endogenous proteins involved in metal transport has been receiving increasing attention over recent decades...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29106805/innate-immunity-and-neurodegeneration
#19
Larisa I Labzin, Michael T Heneka, Eicke Latz
The innate immune system plays diverse roles in health and disease. It represents the first line of defense against infection and is involved in tissue repair, wound healing, and clearance of apoptotic cells and cellular debris. Excessive or nonresolving innate immune activation can lead to systemic or local inflammatory complications and cause or contribute to the development of inflammatory diseases. In the brain, microglia represent the key innate immune cells, which are involved in brain development, brain maturation, and homeostasis...
November 6, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/29105741/epidemiology-of-huntington-disease-in-cyprus-a-20-year-retrospective-study
#20
C A Demetriou, A Heraclides, C Salafori, G A Tanteles, K Christodoulou, Y Christou, E Zamba-Papanicolaou
Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the past. All registered HD patients in the Cyprus Republic, since 1994, were included. Detailed pedigrees and clinical information were recorded and maps, showing the geographic distribution of HD, were constructed...
November 6, 2017: Clinical Genetics
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