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Huntingtons Disease

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Lucianne Dobson, Ulrike Träger, Ruth Farmer, Liat Hayardeny, Pippa Loupe, Michael R Hayden, Sarah J Tabrizi
Huntington's disease (HD) is a neurodegenerative condition characterized by pathology in the brain and peripheral tissues. Hyperactivity of the innate immune system, due in part to NFκB pathway dysregulation, is an early and active component of HD. Evidence suggests targeting immune disruption may slow disease progression. Laquinimod is an orally active immunomodulator that down-regulates proinflammatory cytokine production in peripheral blood mononuclear cells, and in the brain down-regulates astrocytic and microglial activation by modulating NFκB signalling...
June 2016: Journal of Neurochemistry
Helen Tremlett, Kylynda C Bauer, Silke Appel-Cresswell, Brett B Finlay, Emmanuelle Waubant
Almost half the cells and 1% of the unique genes found in our bodies are human, the rest are from microbes, predominantly bacteria, archaea, fungi, and viruses. These microorganisms collectively form the human microbiota, with most colonizing the gut. Recent technological advances, open access data libraries, and application of high-throughput sequencing have allowed these microbes to be identified and their contribution to neurological health to be examined. Emerging evidence links perturbations in the gut microbiota to neurological disease, including disease risk, activity, and progression...
March 2017: Annals of Neurology
Ji-in Kim, Jeffrey D Long, James A Mills, Elizabeth McCusker, Jane S Paulsen
OBJECTIVE: Although Huntington disease (HD) is caused by an autosomal dominant mutation, its phenotypic presentation differs widely. Variability in clinical phenotypes of HD may reflect the existence of disease subtypes. This hypothesis was tested in prodromal participants from the longitudinal Neurobiological Predictors of Huntington Disease (PREDICT-HD) study. METHOD: We performed clustering using longitudinal data assessing motor, cognitive, and depression symptoms...
November 2015: Neuropsychology
Elizabeth A McCusker, David G Gunn, Eric A Epping, Clement T Loy, Kylie Radford, Jane Griffith, James A Mills, Jeffrey D Long, Jane S Paulsen
OBJECTIVE: To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs. METHODS: We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, self-report of progression, and cognitive, behavioral, and imaging measures...
September 24, 2013: Neurology
Christina Mo, Anthony J Hannan, Thibault Renoir
Unlike many other neurodegenerative diseases with established gene-environment interactions, Huntington's disease (HD) is viewed as a disorder governed by genetics. The cause of the disease is a highly penetrant tandem repeat expansion encoding an extended polyglutamine tract in the huntingtin protein. In the year 2000, a pioneering study showed that the disease could be delayed in transgenic mice by enriched housing conditions. This review describes subsequent human and preclinical studies identifying environmental modulation of motor, cognitive, affective and other symptoms found in HD...
May 2015: Neuroscience and Biobehavioral Reviews
Marina Papoutsi, Izelle Labuschagne, Sarah J Tabrizi, Julie C Stout
Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder. The most prominent sign of HD is the presence of involuntary motor movements. However, HD is also characterized by marked cognitive decline, which often precedes the onset of motor symptoms and is generally considered to be more debilitating to the patients and their families, compared to motor symptoms. Cognitive decline is widespread across most faculties of cognition in later stages of the disease, but seems to be selective in preclinical and early stages of the disease, with deficits in the HD patients' ability to multitask, their speed of processing, and executive function...
April 15, 2014: Movement Disorders: Official Journal of the Movement Disorder Society
Patrick Weydt, Victor V Pineda, Anne E Torrence, Randell T Libby, Terrence F Satterfield, Eduardo R Lazarowski, Merle L Gilbert, Gregory J Morton, Theodor K Bammler, Andrew D Strand, Libin Cui, Richard P Beyer, Courtney N Easley, Annette C Smith, Dimitri Krainc, Serge Luquet, Ian R Sweet, Michael W Schwartz, Albert R La Spada
Huntington's disease (HD) is a fatal, dominantly inherited disorder caused by polyglutamine repeat expansion in the huntingtin (htt) gene. Here, we observe that HD mice develop hypothermia associated with impaired activation of brown adipose tissue (BAT). Although sympathetic stimulation of PPARgamma coactivator 1alpha (PGC-1alpha) was intact in BAT of HD mice, uncoupling protein 1 (UCP-1) induction was blunted. In cultured cells, expression of mutant htt suppressed UCP-1 promoter activity; this was reversed by PGC-1alpha expression...
November 2006: Cell Metabolism
Marina de Tommaso, Angela Nuzzi, Anna Rita Dellomonaco, Vittorio Sciruicchio, Claudia Serpino, Claudia Cormio, Giovanni Franco, Marisa Megna
Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by motor impairment, cognitive decline and psychiatric disorders. Dysphagia is a pathologic condition that increases morbidity and mortality of the affected people. Our aim was to evaluate dysphagia in a group of HD patients in view of motor, cognitive and functional decline. Thirty-seven genetically confirmed HD patients were submitted to clinical evaluations of swallowing. Bedside Swallowing Assessment Scale (BSAS) was used...
2015: European Neurology
Hillary Lipe, Thomas Bird
We performed a retrospective observational study of thirty-four persons with late onset of Huntington Disease (HD) (onset range 60-79 years). CAG trinucleotide expansion size ranged from 38-44 repeats. Even at this late age a significant negative correlation (r=-0.421, p<0.05) was found between the length of repeat and age of onset. Important characteristics of these older subjects were: (1)Most (68%) were the first in the family to have a diagnosis of HD, (2) Motor problems were the initial symptoms at onset, (3) Disability increased and varied from mild to severe (4) Disease duration was somewhat shorter (12 years) than that reported for mid-life onset, (5) Death was often related to diseases of old age, such as cancer and cerebrovascular disease, (6) Serious falls were a major risk and (7) Global dementia may be associated with coincident Alzheimer disease...
January 15, 2009: Journal of the Neurological Sciences
Georgios Koutsis, Georgia Karadima, Athina Kladi, Marios Panas
OBJECTIVE: To address diagnostic and prognostic issues in patients with late-onset Huntington's disease (HD). METHODS: We analyzed a cohort of 41 late-onset (≥60 years) HD patients and compared them to 39 late-onset patients referred for HD testing that were negative for the HD-expansion and to 290 usual-onset (20-59 years) HD patients. Disease severity was assessed by the Total Functional Capacity Scale. RESULTS: Late-onset HD comprised 11...
July 2014: Parkinsonism & related Disorders
Abhishek Chandra, Abhijeet Sharma, Noel Y Calingasan, Joshua M White, Yevgeniya Shurubor, X William Yang, M Flint Beal, Ashu Johri
Huntington's disease (HD) is a devastating illness and at present there is no disease modifying therapy or cure for it; and management of the disease is limited to a few treatment options for amelioration of symptoms. Recently, we showed that the administration of bezafibrate, a pan-PPAR agonist, increases the expression of PGC-1α and mitochondrial biogenesis, and improves phenotype and survival in R6/2 transgenic mouse model of HD. Since the R6/2 mice represent a 'truncated' huntingtin (Htt) mouse model of HD, we tested the efficacy of bezafibrate in a 'full-length' Htt mouse model, the BACHD mice...
June 1, 2016: Human Molecular Genetics
McKenzie Wallace, Nancy Downing, Spencer Lourens, James Mills, Ji-In Kim, Jeffrey Long, Jane Paulsen, Predict-Hd Investigators And Coordinators Of The Huntington Study Group
BACKGROUND: Huntington disease (HD) is a genetic neurodegenerative disease leading to progressive motor, cognitive, and behavioral decline. Subtle changes in these domains are detectable up to 15 years before a definitive motor diagnosis is made. This period, called prodromal HD, provides an opportunity to examine lifestyle behaviors that may impact disease progression. THEORETICAL FRAMEWORK: Physical activity relates to decreased rates of brain atrophy and improved cognitive and day-to-day functioning in Alzheimer disease and healthy aging populations...
March 17, 2016: PLoS Currents
Glenn M Dallérac, Damian M Cummings, Mark C Hirst, Austen J Milnerwood, Kerry P S J Murphy
Altered dopamine receptor labelling has been demonstrated in presymptomatic and symptomatic Huntington's disease (HD) gene carriers, indicating that alterations in dopaminergic signalling are an early event in HD. We have previously described early alterations in synaptic transmission and plasticity in both the cortex and hippocampus of the R6/1 mouse model of Huntington's disease. Deficits in cortical synaptic plasticity were associated with altered dopaminergic signalling and could be reversed by D1- or D2-like dopamine receptor activation...
March 2016: Neuromolecular Medicine
Joshua L Plotkin, D James Surmeier
Huntington's disease (HD) is a progressive neurodegenerative disorder that profoundly impairs corticostriatal information processing. While late stage pathology includes cell death, the appearance of motor symptoms parallels more subtle changes in neuronal function and synaptic integration. Because of the difficulty in modeling the disease and the complexity of the corticostriatal network, understanding the mechanisms driving pathology has been slow to develop. In recent years, advances in animal models and network analysis tools have begun to shed light on the circuit-specific deficits...
August 2015: Current Opinion in Neurobiology
M Jacobs, E P Hart, E W van Zwet, A R Bentivoglio, J M Burgunder, D Craufurd, R Reilmann, C Saft, R A C Roos
The objective of this study is to investigate the progression of predominantly choreatic and hypokinetic-rigid signs in Huntington's disease (HD) and their relationship with cognitive and general functioning over time. The motor signs in HD can be divided into predominantly choreatic and hypokinetic-rigid subtypes. It has been reported in cross-sectional studies that predominantly choreatic HD patients perform better on functional and cognitive assessments compared to predominantly hypokinetic-rigid HD patients...
October 2016: Journal of Neurology
D Soulet, F Cicchetti
Huntington's disease (HD) is a devastating and incurable neurodegenerative disorder characterized by progressive cognitive, psychiatric and motor impairments. Although the disease has been seen as a disorder purely of the brain, there is now emerging evidence that abnormalities outside the central nervous system are commonly seen in HD. Indeed, the mutant huntingtin (mHtt) coded for by the abnormal gene in HD is found in every cell type where its presence has been sought. In particular, there are a number of recent observations in HD patients that mHtt interacts with the immune system with accumulating evidence that changes in the immune system may critically contribute to the pathology of HD...
September 2011: Molecular Psychiatry
Giulia Nato, Alessia Caramello, Sara Trova, Valeria Avataneo, Chiara Rolando, Verdon Taylor, Annalisa Buffo, Paolo Peretto, Federico Luzzati
In the adult brain, subsets of astrocytic cells residing in well-defined neurogenic niches constitutively generate neurons throughout life. Brain lesions can stimulate neurogenesis in otherwise non-neurogenic regions, but whether local astrocytic cells generate neurons in these conditions is unresolved. Here, through genetic and viral lineage tracing in mice, we demonstrate that striatal astrocytes become neurogenic following an acute excitotoxic lesion. Similar to astrocytes of adult germinal niches, these activated parenchymal progenitors express nestin and generate neurons through the formation of transit amplifying progenitors...
March 1, 2015: Development
Rui Wang, Christopher A Ross, Huan Cai, Wei-Na Cong, Caitlin M Daimon, Olga D Carlson, Josephine M Egan, Sana Siddiqui, Stuart Maudsley, Bronwen Martin
Huntington's disease (HD) is an inherited neurodegenerative disorder typified by involuntary body movements, and psychiatric and cognitive abnormalities. Many HD patients also exhibit metabolic changes including progressive weight loss and appetite dysfunction. Here we have investigated metabolic function in pre-manifest and manifest HD subjects to establish an HD subject metabolic hormonal plasma signature. Individuals at risk for HD who have had predictive genetic testing showing the cytosine-adenine-guanine (CAG) expansion causative of HD, but who do not yet present signs and symptoms sufficient for the diagnosis of manifest HD are said to be "pre-manifest...
2014: Frontiers in Physiology
A K Ho, M B Hocaoglu
Although Huntington's disease (HD) is a neurodegenerative disease characterized by motor, cognitive and behavioural disturbances, there has been little empirical data examining what patients are most concerned about throughout the different stages of disease, which can span many years. Semi-structured face-to-face interviews were individually conducted with 31 people living with different stages of Huntington's, from pre-clinical gene carriers to advanced stage. We examined how often participants raised issues and concerns regarding the impact of Huntington's on everyday life...
September 2011: Clinical Genetics
Esther Cubo, Jéssica Rivadeneyra, Diana Armesto, Natividad Mariscal, Asunción Martinez, Rafael J Camara
BACKGROUND: Little is known about the impact of nutrition status on Huntington’s disease (HD) severity. OBJECTIVE: To analyze the association of nutritional factors with HD severity. METHODS: Observational, cross-sectional, national multicenter study. Participants were selected from a Spanish cohort of patients who participate in the European Huntington Disease Network (EHDN). The frequency of food consumption, caloric and nutrients intake in patients with HD were assessed using validated questionnaires for the Spanish population, and calculated using Alimentaci´on and Salud, version 2...
2015: Journal of Huntington's Disease
2016-11-15 05:03:34
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