scholarly journals Psychological Interventions for People with Huntington’s Disease: A Call to Arms

2020 ◽  
Vol 9 (3) ◽  
pp. 231-243
Author(s):  
Nicolò Zarotti ◽  
Maria Dale ◽  
Fiona Eccles ◽  
Jane Simpson
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Case Series ◽  
Psychological Theory ◽  
Randomised Control Trial ◽  
Cochrane Library ◽  
Future Research ◽  
Psychological Interventions ◽  
Wide Range ◽  
Psychological Difficulties

Background: Although Huntington’s disease (HD) can cause a wide range of psychological difficulties, no review has ever been carried out on the range of psychological interventions adopted with this population. Objective: To scope the literature on psychological interventions for psychological difficulties in people affected by HD. Methods: A systematic scoping review was performed across MEDLINE, PsycINFO, CINAHL, Academic Search Ultimate, and Cochrane Library up to 1 March 2020. Results: From an initial return of 1579 citations, a total of nine papers were considered eligible for review. These included a qualitative investigation, three case studies, two case series, two uncontrolled pretest-posttest designs, and only one randomised control trial (RCT). Despite the wide range of psychological difficulties which can be experienced by people affected by the HD gene expansion, the adopted interventions only accounted for five main psychological outcomes (anxiety, apathy, depression, irritability, and coping). Further discussion and suggestions for future research are provided for each outcome. Conclusion: The current literature on psychological interventions in people affected by HD is extremely limited both in terms of methods and addressed clinical outcomes. Consequently, no conclusions can be offered yet as to which psychological therapy may help this population. As further more comprehensive research is urgently needed for this group, the ultimate aim of the present review is to act as a call to arms for HD researchers worldwide to help shed light on the most effective way to translate psychological theory into practice for the benefit of people affected by HD.

scholarly journals Scoping review protocol: bladder cancer in Nigeria: what are the gaps in clinical care and research?

BMJ Open ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. e041894
Author(s):  
Joyce Kibaru ◽  
Pinky Kotecha ◽  
Abdulkarim Muhammad Iya ◽  
Beth Russell ◽  
Muzzammil Abdullahi ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Scoping Review ◽  
Low Income ◽  
Clinical Care ◽  
Grey Literature ◽  
Case Series ◽  
Cochrane Library ◽  
Future Research ◽  
Scoping Reviews ◽  
Local Risk

IntroductionBladder cancer (BC) is the 10th common cancer worldwide and ranks seventh in Nigeria. This scoping review aims to identify the gaps in clinical care and research of BC in Nigeria as part of the development of a larger national research programme aiming to improve outcomes and care of BC.Methods and analysisThis review will be conducted according to Arksey and O’Malley scoping review methodology framework. The following electronic databases will be searched: Medline (using the PubMed interface), Ovid Gateway (Embase and Ovid), Cochrane library and Open Grey literature. Two independent reviewers will screen titles and abstracts and subsequently screen full-text studies for inclusion, any lack of consensus will be discussed with a third reviewer. Any study providing insight into the epidemiology or treatment pathway of BC (RCTs, observations, case series, policy paper) will be included. A data chart will be used to extract relevant data from the included studies. Results will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews. A consultation process will be carried out with a multidisciplinary team of Nigerian healthcare professionals, patients and scientists.Ethics and disseminationThe results will be disseminated through peer-reviewed publications. By highlighting the key gaps in the literature, this review can provide direction for future research and clinical guidelines in Nigeria (and other low-income and middle-income countries), where BC is more prevalent due to local risk factors and healthcare settings.

M6 Nabilone in huntington’s disease: a case series of five patients

2016 ◽  
Vol 87 (Suppl 1) ◽  
pp. A103.2-A103 ◽  
Author(s):  
Beatrice Heim ◽  
Sweta Bajaj ◽  
Roberto De Marzi ◽  
Stephanie Mangesius ◽  
Atbin Djamshidian ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Case Series

scholarly journals Mitochondrial Respiration Changes in R6/2 Huntington’s Disease Model Mice during Aging in a Brain Region Specific Manner

2020 ◽  
Vol 21 (15) ◽  
pp. 5412 ◽  
Author(s):  
Johannes Burtscher ◽  
Alba Di Pardo ◽  
Vittorio Maglione ◽  
Christoph Schwarzer ◽  
Ferdinando Squitieri
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Model ◽  
Brain Regions ◽  
Future Research ◽  
Adult Mice ◽  
Age Related ◽  
Developmental Shift ◽  
Regional Vulnerability ◽  
Oxygen Conditions

Mitochondrial dysfunction is crucially involved in aging and neurodegenerative diseases, such as Huntington’s Disease (HD). How mitochondria become compromised in HD is poorly understood but instrumental for the development of treatments to prevent or reverse resulting deficits. In this paper, we investigate whether oxidative phosphorylation (OXPHOS) differs across brain regions in juvenile as compared to adult mice and whether such developmental changes might be compromised in the R6/2 mouse model of HD. We study OXPHOS in the striatum, hippocampus, and motor cortex by high resolution respirometry in female wild-type and R6/2 mice of ages corresponding to pre-symptomatic and symptomatic R6/2 mice. We observe a developmental shift in OXPHOS-control parameters that was similar in R6/2 mice, except for cortical succinate-driven respiration. While the LEAK state relative to maximal respiratory capacity was reduced in adult mice in all analyzed brain regions, succinate-driven respiration was reduced only in the striatum and cortex, and NADH-driven respiration was higher as compared to juvenile mice only in the striatum. We demonstrate age-related changes in respirational capacities of different brain regions with subtle deviations in R6/2 mice. Uncovering in situ oxygen conditions and potential substrate limitations during aging and HD disease progression are interesting avenues for future research to understand brain-regional vulnerability in HD.

Late-Onset Huntington's Disease: A Geriatric Psychiatry Perspective

1996 ◽  
Vol 9 (1) ◽  
pp. 26-29 ◽  
Author(s):  
Kenneth I. Shulman ◽  
Anne Lennox ◽  
Harry Karlinsky
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Elderly Patients ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Clinical Aspects ◽  
Illustrative Case ◽  
Wide Range

Late-onset Huntington's disease is more common than has been generally appreciated and is associated with a wide range of psychiatric symptoms and syndromes. Geriatric psychiatrists have an important role to play in establishing the diagnosis and providing guidance to elderly patients and their families as they struggle with difficult management decisions. An illustrative case report and selective literature review are presented that highlight the genetic and clinical aspects of the condition.

The association of affective disorder with Huntington's Disease in a case series and in families

1983 ◽  
Vol 13 (3) ◽  
pp. 537-542 ◽  
Author(s):  
Susan E. Folstein ◽  
Margaret H. Abbott ◽  
Gary A. Chase ◽  
Barbara A. Jensen ◽  
Marshal F. Folstein
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Affective Disorder ◽  
Genetic Heterogeneity ◽  
Geographical Area ◽  
Case Series ◽  
Consecutive Case ◽  
Multiple Sources

SynopsisMajor affective disorder clinically similar to the disorder found in conditions other than Huntington's Disease (HD) was found in 41% of patients with HD in a consecutive case series ascertained through multiple sources in a defined geographical area. The association appears to be confined to certain families, and affective disorder may appear as long as 20 years before the onset of chorea and dementia. The association may represent genetic heterogeneity in HD.

scholarly journals Neuroprotective strategies for NMDAR-mediated excitotoxicity in Huntington’s Disease

2016 ◽  
Author(s):  
KD Girling ◽  
YT Wang
Keyword(s):  
Cell Death ◽  
Huntington's Disease ◽  
Cell Survival ◽  
Huntington’S Disease ◽  
Glutamate Release ◽  
Clinical Approach ◽  
Wide Range ◽  
Pubmed Search ◽  
Nmdar Activation ◽  
Cell Death Signaling

AbstractBACKGROUNDHuntington’s Disease (HD) is an autosomal dominant neurodegenerative disease causing severe neurodegeneration of the striatum as well as marked cognitive and motor disabilities. Excitotoxicity, caused by overstimulation of NMDA receptors (NMDARs) has been shown to have a key role in the neuropathogenesis of HD, suggesting that targeting NMDAR-dependent signaling may be an effective clinical approach for HD. However, broad NMDAR antagonists are generally poor therapeutics in clinical practice. It has been suggested that GluN2A-containing, synaptically located NMDARs activate cell survival signaling pathways, while GluN2B-containing, primarily extrasynaptic NMDARs trigger cell death signaling. A better approach to development of effective therapeutics for HD may be to target, specifically, the cell-death specific pathways associated with extrasynaptic GluN2B NMDAR activation, while maintaining or potentiating the cell-survival activity of GluN2A-NMDARs.OBJECTIVEThis review outlines the role of NMDAR-mediated excitotoxicity in HD and overviews current efforts to develop better therapeutics for HD where NMDAR excitotoxicity is the target.METHODSA systematic review process was conducted using the PubMed search engine focusing on research conducted in the past 5-10 years. 250 articles were consulted for the review, with key search terms including “Huntington’s Disease”, “excitotoxicity”, “NMDAR” and “therapeutics”.RESULTSA wide range of NMDAR excitotoxicity-based targets for HD were identified and reviewed, including targeting NMDARs directly by blocking GluN2B, extrasynaptic NMDARs and/or potentiating GluN2A, synaptic NMDARs, targeting glutamate release or uptake, or targeting specific downstream cell-death signaling of NMDARs.CONCLUSIONThe current review identifies NMDAR-mediated excitotoxicity as a key player in HD pathogenesis and points to various excitotoxicity-focused targets as potential future preventative therapeutics for HD.

scholarly journals Targeted Genetic Reduction of Mutant Huntingtin Lessens Cardiac Pathology in the BACHD Mouse Model of Huntington's Disease

2021 ◽  
Vol 8 ◽  
Author(s):  
Saemi Park ◽  
Shu Hon Christopher Luk ◽  
Raj S. Bains ◽  
Daniel S. Whittaker ◽  
Emily Chiem ◽  
...  
Keyword(s):  
Mouse Model ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Treatment Strategies ◽  
The Body ◽  
Activity Levels ◽  
Protein Levels ◽  
Pathological Cardiac Hypertrophy ◽  
Expression Of Genes ◽  
Wide Range

Individuals affected by Huntington's disease (HD) present with progressive degeneration that results in a wide range of symptoms, including cardiovascular (CV) dysfunction. The huntingtin gene (HTT) and its product are ubiquitously expressed, hence, the cardiomyopathy could also be driven by defects caused by its mutated form (mHTT) in the cardiomyocytes themselves. In the present study, we sought to determine the contribution of the mHTT expressed in the cardiomyocytes to CV symptoms. We utilized the BACHD mouse model, which exhibits many of the HD core symptoms, including CV dysfunction. This model allows the targeted genetic reduction of mHTT expression in the cardiomyocytes while maintaining the expression of the mHTT in the rest of the body. The BACHD line was crossed with a line of mice in which the expression of Cre recombinase is driven by the cardiac-specific alpha myosin-heavy chain (Myh6) promoter. The offspring of this cross (BMYO mice) exhibited a dramatic reduction in mHTT in the heart but not in the striatum. The BMYO mice were evaluated at 6 months old, as at this age, the BACHD line displays a strong CV phenotype. Echocardiogram measurements found improvement in the ejection fraction in the BMYO line compared to the BACHD, while hypertrophy was observed in both mutant lines. Next, we examined the expression of genes known to be upregulated during pathological cardiac hypertrophy. As measured by qPCR, the BMYO hearts exhibited significantly less expression of collagen1a as well as Gata4, and brain natriuretic peptide compared to the BACHD. Fibrosis in the hearts assessed by Masson's trichrome stain and the protein levels of fibronectin were reduced in the BMYO hearts compared to BACHD. Finally, we examined the performance of the mice on CV-sensitive motor tasks. Both the overall activity levels and grip strength were improved in the BMYO mice. Therefore, we conclude that the reduction of mHtt expression in the heart benefits CV function in the BACHD model, and suggest that cardiomyopathy should be considered in the treatment strategies for HD.

HDinHD: A Rich Data Portal for Huntington’s Disease Research

2021 ◽  
pp. 1-8
Author(s):  
Jeff Aaronson ◽  
Vahri Beaumont ◽  
Richard A. Blevins ◽  
Viktoria Andreeva ◽  
Irina Murasheva ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Scientific Data ◽  
High Definition ◽  
Related Data ◽  
Online Portal ◽  
Wide Range ◽  
Data Portal ◽  
Rich Data

HDinHD (Huntington’s Disease in High Definition; HDinHD.org) is an open online portal for the HD research community that presents a synthesized view of HD-related scientific data. Here, we present a broad overview of HDinHD and highlight the newly launched HDinHD Explorer tool that enables researchers to discover and explore a wide range of diverse yet interconnected HD-related data. We demonstrate the utility of HDinHD Explorer through data mining of a single collection of newly released in vivo therapeutic intervention study reports alongside previously published reports.

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