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Huntingtons Disease

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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
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
2016-09-18 08:49:17
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