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Showing "Huntington Bancshares Incorporated" PubMed Articles 1–25 of 145

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.

Huntington's disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington's disease, juvenile Huntington's disease (onset ≤20 years) is even rarer and has not been studied extensively. We aimed to further characterise juvenile Huntington's disease by examining the effect of CAG repeat size on disease presentation, progression, and survival.

Suicidal Ideation Assessment in Individuals with Premanifest and Manifest Huntington Disease.

Huntington disease (HD) is associated with increased risk of suicide.

Young People Living at Risk of Huntington's Disease: The Lived Experience.

For young people in families with Huntington's disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to being at risk of HD themselves.

Novel Imaging Biomarkers for Huntington's Disease and Other Hereditary Choreas.

Imaging biomarkers for neurodegenerative disorders are primarily developed with the goal to aid diagnosis, to monitor disease progression, and to assess the efficacy of disease-modifying therapies in support to clinical outcomes that may either show limited sensitivity or need extended time for their evaluation. This article will review the most recent concepts and findings in the field of neuroimaging applied to Huntington's disease and Huntington-like syndromes. Emphasis will be given to the discussion of...

Huntington's Disease and Employment: The Relative Contributions of Cognitive and Motor Decline to the Decision to Leave Work.

Huntington's disease (HD) presents with motor, cognitive, and behavioral symptoms that impair functional capacity and the ability to maintain employment. The relative contribution of cognitive decline to work disability remains controversial.

Clinical Management of Neuropsychiatric Symptoms of Huntington Disease: Expert-Based Consensus Guidelines on Agitation, Anxiety, Apathy, Psychosis and Sleep Disorders.

In clinical practice, several strategies and pharmacological options are available to treat neuropsychiatric symptoms of Huntington disease (HD). However, there is currently insufficient data for evidence-based guidelines on the management of these common symptoms.

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset.

We aimed to assess whether differences in energy metabolism in fibroblast cell lines derived from patients with Huntington disease were associated with age at onset independent of the cytosine-adenine-guanine (CAG) repeat number in the mutant allele.

Predictors of simulated driving performance in Huntington's disease.

As the disease progresses, patients with Huntington's disease (HD), an inherited neurodegenerative disorder, become less independent in their daily life activities and have to consider if they can still drive a car. For most patients, the decision to quit driving is difficult and affects their independence and social activities.

Understanding How Chorea Affects Health-Related Quality of Life in Huntington Disease: An Online Survey of Patients and Caregivers in the United States.

Chorea is the hallmark motor feature of Huntington disease (HD) and can negatively impact daily functioning and health-related quality of life (HRQoL).

Auditory time perception in Huntington's disease.

Huntington's disease (HD) is characterized by early involvement of the striatum. It affects the pace of repetitive motor activity, as motor timing depends on basal ganglia activity. However, data are lacking on the impact of this process on auditory time perception in motor non-affected gene carriers.

Objective assessment of gait and posture in premanifest and manifest Huntington disease - A multi-center study.

Deficits in posture and gait are known to contribute to the complex motor phenotype of Huntington disease (HD). Objective and quantitative measures of posture and gait provided by posturography and GAITRite assessments may supplement categorical rating scales such as the UHDRS-TMS and increase power and sensitivity of clinical trials.

Altered driving performance of symptomatic Huntington's disease gene carriers in simulated road conditions.

In clinical practice, patients with Huntington's disease (HD) often decide to solely drive in their own familiar neighborhoods and not on a motorway or in an unknown area. The aim of the study was to identify differences in driving performance between HD gene carriers and healthy individuals in simulated urban and motorway environments.

Customized Dietary Intervention Avoids Unintentional Weight Loss and Modulates Circulating miRNAs Footprint in Huntington's Disease.

Huntington disease (HD) is a rare progressive neurodegenerative disorder of genetic origin, with no definitive treatment. Unintentional weight loss (UWL) is a clinical feature of symptomatic HD-subjects. To prevent UWL, a customized HD-diet was designed and its impact on plasma miRNA HD-footprint and neurological parameters was examined.

Selection of Reference Regions to Model Neurodegeneration in Huntington Disease by 18F-FDG PET/CT Using Imaging and Clinical Parameters.

Normalization to an appropriate reference region in F-FDG PET imaging may enhance diagnostic performance in Huntington disease (HD). We aimed to identify stable brain areas that could be used to model neurometabolic degeneration in HD correlating imaging (SUVrvalues at the basal ganglia [BBGG]) and clinical parameters (disease burden score [DBS]).

Gradual Phenotype Development in Huntington Disease Transgenic Minipig Model at 24 Months of Age.

Huntington disease (HD) is an incurable neurodegenerative disease caused by the expansion of a polyglutamine sequence in a gene encoding the huntingtin (Htt) protein, which is expressed in almost all cells of the body. In addition to small animal models, new therapeutic approaches (including gene therapy) require large animal models as their large brains are a more realistic model for translational research.

Retinal dysfunction in a presymptomatic patient with Huntington's disease.

Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD.

A role for autophagy in Huntington's disease.

The lysosome-mediated degradation pathway known as macroautophagy is the most versatile means through which cells can eliminate and recycle unwanted materials. Through both selective and non-selective means, macroautophagy can degrade a wide range of cargoes from bulk cytosol to organelles and aggregated proteins. Although studies of disorders such as Parkinson's disease and Amyotrophic Lateral Sclerosis suggest that autophagic and lysosomal dysfunction directly contributes to disease, this had not been the...


Huntington's disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlife patients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HD patients. Optical Coherence Tomography (OCT) is a non-invasive methodology that analyzes the retinal nerve fiber layers (RNFL) and could reflect processes of neurodegeneration.

Leukocyte telomere shortening in Huntington's disease.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG repeat. Though symptom onset commonly occurs at midlife and inversely correlates with the CAG repeat expansion, age at clinical onset and progression rate are variable. In the present study we investigated the relationship between leukocyte telomere length (LTL) and HD development. LTL was measured by real-time PCR in manifest HD patients (HD, n = 62), pre-manifest HD patients (pre-HD, n = 38), and...

Understanding patient-reported outcome measures in Huntington disease: at what point is cognitive impairment related to poor measurement reliability?

Symptom progression in Huntington disease (HD) is associated with cognitive decline which may interfere with the self-report of symptoms. Unfortunately, data to support or refute the psychometric reliability of patient-reported outcomes (PROs) as HD progresses are limited. This is problematic given that PROs are increasingly recognized as important measures of efficacy for new treatments.

Juvenile Huntington's disease: left behind?

A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases.

Recent epigenome-wide association studies in Alzheimer's disease have highlighted consistent robust neuropathology-associated DNA hypermethylation of the ankyrin 1 (ANK1) gene in the cortex. The extent to which altered ANK1 DNA methylation is also associated with other neurodegenerative diseases is not currently known. In the present study, we used bisulfite pyrosequencing to quantify DNA methylation across 8 CpG sites within a 118 bp region of the ANK1 gene across multiple brain regions in Alzheimer's dis...

Fibroblast Growth Factor 9 Suppresses Striatal Cell Death Dominantly Through ERK Signaling in Huntington's Disease.

Huntington's disease (HD) is a heritable neurodegenerative disorder, and there is no cure for HD to date. A type of fibroblast growth factor (FGF), FGF9, has been reported to play prosurvival roles in other neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. However, the effects of FGF9 on HD is still unknown. With many similarities in the cellular and pathological mechanisms that eventually cause cell death in neurodegenerative diseases, we hypothesize that FGF9 might provide n...

The role of the striatum in linguistic selection: Evidence from Huntington's disease and computational modeling.

Though accumulating evidence indicates that the striatum is recruited during language processing, the specific function of this subcortical structure in language remains to be elucidated. To answer this question, we used Huntington's disease as a model of striatal lesion. We investigated the morphological deficit of 30 early Huntington's disease patients with a novel linguistic task that can be modeled within an explicit theory of linguistic computation. Behavioral results reflected an impairment in HD pati...

Physician perception versus true efficacy of tetrabenazine for Huntington's disease.

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