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Huntingtons Disease

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31 papers 0 to 25 followers
Deborah L Harrington, Mikail Rubinov, Sally Durgerian, Lyla Mourany, Christine Reece, Katherine Koenig, Ed Bullmore, Jeffrey D Long, Jane S Paulsen, Stephen M Rao
Cognitive, motor and psychiatric changes in prodromal Huntington's disease have nurtured the emergent need for early interventions. Preventive clinical trials for Huntington's disease, however, are limited by a shortage of suitable measures that could serve as surrogate outcomes. Measures of intrinsic functional connectivity from resting-state functional magnetic resonance imaging are of keen interest. Yet recent studies suggest circumscribed abnormalities in resting-state functional magnetic resonance imaging connectivity in prodromal Huntington's disease, despite the spectrum of behavioural changes preceding a manifest diagnosis...
August 2015: Brain: a Journal of Neurology
N Saleh, S Moutereau, J-P Azulay, C Verny, C Simonin, C Tranchant, N El Hawajri, A-C Bachoud-Lévi, P Maison
OBJECTIVE: The somatotropic axis (growth hormone [GH] and insulinlike growth factor I [IGFI]) play a role in the cognitive deficits seen with aging, GH deficiency, and neurodegenerative disorders such as Alzheimer disease. We recently reported elevations in basal plasma GH and IGFI levels in patients with Huntington disease (HD). Here, our objective was to determine whether somatotropic axis abnormalities predicted cognitive dysfunction in HD. METHODS: In this prospective cohort study of 109 patients with genetically documented HD, aged 21 to 85 years, we determined fasting blood levels of total IGFI, GH, and insulinlike factor binding protein 3 at baseline, and we used the cognitive Unified Huntington's Disease Rating Scale to assess cognitive impairment at baseline and for up to 5 years subsequently...
July 6, 2010: Neurology
Romina Vuono, Sophie Winder-Rhodes, Rohan de Silva, Giulia Cisbani, Janelle Drouin-Ouellet, Maria G Spillantini, Francesca Cicchetti, Roger A Barker
Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated in Huntington's disease...
July 2015: Brain: a Journal of Neurology
Wanglin Liu, Jing Yang, JeanMarc Burgunder, Bochao Cheng, Huifang Shang
BACKGROUND: Diffusion tensor imaging (DTI) could detect abnormal brain microstructural alterations. DTI studies of Huntington's Disease(HD) have yielded inconsistent results. OBJECTIVE: To integrate the existing DTI studies of HD and explore the validity of DTI to detect microstructural damages in HD brain via meta-analysis. METHODS: Systematic and comprehensive searches of the databases were performed for DTI studies of HD. The data from the studies that met our inclusion criteria were extracted and analyzed using the CMA2 software...
September 7, 2016: Parkinsonism & related Disorders
Lichuan Yang, Noel Y Calingasan, Elizabeth J Wille, Kerry Cormier, Karen Smith, Robert J Ferrante, M Flint Beal
Coenzyme Q(10) (CoQ(10)) and creatine are promising agents for neuroprotection in neurodegenerative diseases via their effects on improving mitochondrial function and cellular bioenergetics and their properties as antioxidants. We examined whether a combination of CoQ(10) with creatine can exert additive neuroprotective effects in a MPTP mouse model of Parkinson's disease, a 3-NP rat model of Huntington's disease (HD) and the R6/2 transgenic mouse model of HD. The combination of the two agents produced additive neuroprotective effects against dopamine depletion in the striatum and loss of tyrosine hydroxylase neurons in the substantia nigra pars compacta (SNpc) following chronic subcutaneous administration of MPTP...
June 2009: Journal of Neurochemistry
Gian Paolo Littarru, Luca Tiano
The fundamental role of coenzyme Q(10) (CoQ(10)) in mitochondrial bioenergetics and its well-acknowledged antioxidant properties constitute the basis for its clinical applications, although some of its effects may be related to a gene induction mechanism. Cardiovascular disease is still the main field of study and the latest findings confirm a role of CoQ(10) in improving endothelial function. The possible relation between CoQ(10) deficiency and statin side effects is highly debated, particularly the key issue of whether CoQ(10) supplementation counteracts statin myalgias...
March 2010: Nutrition
Svatava Kasparová, Zuzana Sumbalová, Peter Bystrický, Jarmila Kucharská, Tibor Liptaj, Vladimír Mlynárik, Anna Gvozdjáková
The neuropathological and clinical symptoms of Huntington's disease (HD) can be simulated in animal model with systemic administration of 3-nitropropionic acid (3-NP). Energy defects in HD could be ameliorated by administration of coenzyme Q(10) (CoQ(10)), creatine, or nicotinamid. We studied the activity of creatine kinase (CK) and the function of mitochondrial respiratory chain in the brain of aged rats administered with 3-NP with and without previous application of antioxidants CoQ(10)+vitamin E. We used dynamic and steady-state methods of in vivo phosphorus magnetic resonance spectroscopy ((31)P MRS) for determination of the pseudo-first order rate constant (k(for)) of the forward CK reaction, the phosphocreatine (PCr) to adenosinetriphosphate (ATP) ratio, intracellular pH(i) and Mg(i)(2+) content in the brain...
January 2006: Neurochemistry International
Chiung-Mei Chen
Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder, characterized by an array of different psychiatric manifestations, cognitive decline and choreiform movements. The underlying molecular genetic defect is an expanded trinucleotide (CAG)n repeat encoding a polyglutamine stretch in the N-terminus of the huntingtin protein. The mechanisms by which mutant huntingtin causes neuronal dysfunction and degeneration are not fully understood. Nevertheless, impaired ubiquitin-proteasome activity, defective autophagy-lysosomal function, transcriptional dysregulation, oxidative stress, apoptosis, mitochondrial and metabolic dysfunction, and abnormal protein-protein interaction have been shown to play important roles in the pathogenesis of HD...
March 2011: Chang Gung Medical Journal
Isabelle Arnulf, Jørgen Nielsen, Ebba Lohmann, Johannes Schiefer, Johannes Schieffer, Edward Wild, Poul Jennum, Eric Konofal, Matthew Walker, Delphine Oudiette, Sarah Tabrizi, Alexandra Durr
BACKGROUND: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). OBJECTIVE: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages and the length of CAG repeats. Because a mild hypocretin deficiency has been found in the brains of some patients with HD (hereinafter referred to as HD patients), we also tested the HD patients for narcolepsy...
April 2008: Archives of Neurology
Weijun Xuan, Liyi Huang, Michael R Hamblin
We previously showed that near-infrared laser photobiomodulation (PBM) (810 nm, CW, 18 J/cm(2) , 25 mW/cm(2) ) delivered to the mouse daily for 3-days after a controlled cortical impact traumatic brain injury (TBI) gave a significant improvement in neurological/cognitive function. However the same parameters delivered 14X daily gave significantly less benefit. This biphasic dose response intrigued us, and we decided to follow the mice that received 3X or 14X laser treatments out to 56-days post-TBI. We found the 14X group showed worse neurological function than the no-treatment TBI group at 2-weeks, but started to improve steadily during the next 6-weeks, and by 56-days were significantly better than the no-treatment TBI mice, but still worse than the 3X mice...
March 15, 2016: Journal of Biophotonics
Jang-Ho J Cha
While selective neuronal death has been an influential theme in Huntington's disease (HD), there is now a preponderance of evidence that significant neuronal dysfunction precedes frank neuronal death. The best evidence for neuronal dysfunction is the observation that gene expression is altered in HD brain, suggesting that transcriptional dysregulation is a central mechanism. Studies of altered gene expression began with careful observations of postmortem human HD brain and subsequently were accelerated by the development of transgenic mouse models...
November 2007: Progress in Neurobiology
Jane S Paulsen, Karin Ferneyhough Hoth, Carissa Nehl, Laura Stierman
Contrary to popular belief, receiving a diagnosis of a devastating fatal disease does not exacerbate, and may even alleviate, the risk of suicide. Suicidal ideation was examined in 4,171 individuals in the Huntington Study Group database. Participants were grouped according to a standardized neurological examination from 0 (i.e., normal examination) to 3 (definite Huntington's disease). Patients with an unequivocal diagnosis of Huntington's disease were further divided by stage of disease, from stage 1 (early) to stage 5 (end stage)...
April 2005: American Journal of Psychiatry
Chrisna Swart, William Haylett, Craig Kinnear, Glynis Johnson, Soraya Bardien, Ben Loos
The aggregation of misfolded proteins has long been regarded as a pathological event in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and Huntington's disease. However, the exact molecular mechanisms that govern protein metabolism that may lead to toxicity remain largely unclear. Originally targeted as the causative agent, it has since become evident that aggregation formation may not be necessary for disease progression and studies show that they may even serve functional and protective roles...
October 2014: Experimental Gerontology
D W Ellison, M F Beal, M F Mazurek, J R Malloy, E D Bird, J B Martin
Concentrations of gamma-aminobutyric acid (GABA), glutamate, aspartate, and taurine were measured in postmortem tissue from the brains of patients with Huntington's disease (HD) and in the quinolinic acid (QA) lesioned rat striatum. The aim of the study was to assess further the ability of the QA model of HD to reproduce the neurochemical features of the disease. Nine cortical and 9 subcortical regions were examined from 17 pathologically graded cases of HD and 10 controls. Significant reductions in both GABA and glutamate were found in HD striatum...
December 1987: Brain: a Journal of Neurology
Yu-Kai Chang, Jack Han-Chao Tsai, Chun-Chih Wang, Erik Chihhung Chang
The aim of this study was to use diffusion tensor imaging (DTI) to characterize and compare microscopic differences in white matter integrity in the basal ganglia between elite professional athletes specializing in running and martial arts. Thirty-three young adults with sport-related skills as elite professional runners (n = 11) or elite professional martial artists (n = 11) were recruited and compared with non-athletic and healthy controls (n = 11). All participants underwent health- and skill-related physical fitness assessments...
July 2015: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Marc Deffains, Liliya Iskhakova, Hagai Bergman
The "arkypallidal" neurons of the globus pallidus (external segment) emit feedback GABAergic projections to the striatum. In this issue of Neuron, Mallet et al. (2016) show that "arkypallidal" neurons provide a Stop signal, suppressing the development of Go-related striatal activity.
January 20, 2016: Neuron
R L Albin, A Reiner, K D Anderson, L S Dure, B Handelin, R Balfour, W O Whetsell, J B Penney, A B Young
We have reported previously that striatal projection neurons are differentially affected in the course of Huntington's disease, and in a prior patient report we noted that differential loss of striatal projection neurons occurs also in patients with presymptomatic Huntington's disease. Striatal neurons projecting to the external segment of the globus pallidus or the substantia nigra show evident loss, whereas those projecting to the internal segment of the globus pallidus appear relatively spared at presymptomatic and early stages of symptomatic Huntington's disease...
April 1992: Annals of Neurology
E Sapp, P Ge, H Aizawa, E Bird, J Penney, A B Young, J P Vonsattel, M DiFiglia
Previous studies have shown that in advanced cases of Huntington's disease, enkephalin-immunoreactive striatal projections to the external globus pallidus may be more affected than substance P-containing striatal projections to the inner segment of the pallidum [Reiner A. et al. (1988) Proc. natn. Acad. Sci. U.S.A. 85, 5733-5737]. Other immunohistochemical [Ferrante R. J. et al. (1990) Soc. Neurosci. Abstr. 16, 1120] and neurochemical observations [Storey E. and Beal M.F. (1993) Brain 116, 1201-1222] suggest no difference in the loss of these peptide-containing pathways in Huntington's disease...
January 1995: Neuroscience
K L Allen, H J Waldvogel, M Glass, R L M Faull
Huntington's disease (HD) is a disease of the basal ganglia which results in a major loss of the striatal GABAergic medium spiny neurons containing enkephalin and substance P. These neurons project principally to the globus pallidus (GP) and substantia nigra pars reticulata (SNr). Both GABA(A) and GABA(B) receptors are localised postsynaptically on neurons in the GP and SNr, and cannabinoid (CB(1)) receptors are localised presynaptically on the axon terminals of the medium spiny projection neurons in the GP and SNr...
July 2009: Journal of Chemical Neuroanatomy
Atsushi Nambu
The internal segment of the globus pallidus (GP(i)) gathers many bits of information including movement-related activity from the striatum, external segment of the globus pallidus (GP(e)), and subthalamic nucleus (STN), and integrates them. The GP(i) receives rich GABAergic inputs from the striatum and GP(e), and gamma-aminobutyric acid (GABA) receptors are distributed in the GP(i) in a specific manner. Thus, inputs from the striatum and GP(e) may control GP(i) activity in a different way. The GP(i) finally conveys processed information outside the basal ganglia...
2007: Progress in Brain Research
2016-09-01 10:05:44
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