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Huntingtons Disease

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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
John Maltby, Maria Dale, Mandy Underwood, Hugh Rickards, Jenny Callaghan
This study explores the structural relationship between self-report and interview measures of affect in Huntington's disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of distress.
2016: Journal of Neuropsychiatry and Clinical Neurosciences
Nigel I Wood, Stephen J Sawiak, Guido Buonincontri, Youguo Niu, Andrew D Kane, T Adrian Carpenter, Dino A Giussani, A Jennifer Morton
HD is a progressive genetic neurological disorder, characterized by motor as well as cognitive impairments. The gene carrying the mutation causing Huntington's disease (HD) is not brain specific, and there is increasing evidence for peripheral, as well as brain pathology in this disorder. Here, we used in vivo and ex vivo techniques to assess the cardiac function of mice transgenic for the HD mutation. Using magnetic resonance imaging (MRI) of the beating heart, we show that abnormalities previously reported in end-stage mice are present by mid-stages of the disease...
2012: Journal of Huntington's Disease
Michael Maes, Marta Kubera, Ewa Obuchowiczwa, Lisa Goehler, Joanna Brzeszcz
There is now evidence that depression, as characterized by melancholic symptoms, anxiety, and fatigue and somatic (F&S) symptoms, is the clinical expression of peripheral cell-mediated activation, inflammation and induction of oxidative and nitrosative stress (IO&NS) pathways and of central microglial activation, decreased neurogenesis and increased apoptosis. This review gives an explanation for the multiple "co-morbidities" between depression and a large variety of a) brain disorders related to neurodegeneration, e...
2011: Neuro Endocrinology Letters
S A Sørensen, K Fenger
Causes of death were examined from death certificates for 395 Danish subjects with Huntington's disease (HD) and for 282 unaffected sibs and compared with the causes of death in the general Danish population. For both the HD subjects and the sibs, pneumonia and cardiovascular diseases were the most frequent primary causes of death. Suicides accounted for 5.6% of all deaths among the HD subjects and, unexpectedly, for 5.3% among the sibs, some of whom may have been carriers of the HD gene. Both were significantly higher than the corresponding frequency of 2...
December 1992: Journal of Medical Genetics
T Q Hoang, S Bluml, D J Dubowitz, R Moats, O Kopyov, D Jacques, B D Ross
OBJECTIVE: To determine cerebral energy status in patients with Huntington's disease (HD) and Parkinson's disease (PD). METHODS: The study included 15 patients with DNA-proven, symptomatic HD and five patients with medically treated, idiopathic PD, all of whom were candidates for neurotransplant treatment, as well as 20 age-related normal subjects. Quantitative noninvasive, MRI-guided proton MRS was performed of single volumes in putamen of basal ganglia (BG), occipital gray matter, and posterior parietal white matter; in addition, quantitative phosphorus and proton-decoupled phosphorus MRS of superior biparietal white and gray matter was done...
April 1998: Neurology
Hyeeun Shin, Man Ho Kim, Su Jin Lee, Kyung-Han Lee, Mi-Jung Kim, Ji Sun Kim, Jin Whan Cho
BACKGROUND AND PURPOSE: Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder. Genetic analysis of abnormal CAG expansion in the IT15 gene allows disease confirmation even in the preclinical stage. However, because there is no treatment to cure or delay the progression of this disease, monitoring of biological markers that predict progression is warranted. METHODS: FDG-PET was applied to 13 patients with genetically confirmed HD in the early stage of the disease...
January 2013: Journal of Clinical Neurology
2016-10-28 03:25:12
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