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Huntington's disease
... Described in 1872 by american physician George Huntington, the Huntington's disease (HD), also known as Huntington's chorea, is a progressive and fatal neurodegenerative disorder [1]. In the world, the HD prevalence was estimated in 5 to 10 cases per 100,000 persons [2]. The initial physical HD symptoms are jerky, random, and uncontrollable movements defined as chorea [1] The earliest symptoms are characterized by alterations of mood and cognitive abilities [1]. ...
... The initial physical HD symptoms are jerky, random, and uncontrollable movements defined as chorea [1] The earliest symptoms are characterized by alterations of mood and cognitive abilities [1]. With the disease advance, the uncoordinated body movements become more apparent and cognitive abilities decline into dementia [1][2][3]. HD symptoms can start at any age, but generally begin between 30 and 50-year-old [1][2][3]. Some HD cases start before the age of 20 years (about 8%) with symptoms similar to Parkinson's disease [1]. ...
... With the disease advance, the uncoordinated body movements become more apparent and cognitive abilities decline into dementia [1][2][3]. HD symptoms can start at any age, but generally begin between 30 and 50-year-old [1][2][3]. Some HD cases start before the age of 20 years (about 8%) with symptoms similar to Parkinson's disease [1]. ...
Caricati-Neto A, Bergantin LB. Huntington´s disease and the interaction between Ca 2+ and cAMP signaling pathways. J Pharmacol Res December-2017;1(1):17-24. Huntington disease (HD) is a neurodegenerative disease known by progressive motor, behavioral, and cognitive decline that culminates in the death. HD therapy is yet unsatisfactory. Chorea and psychiatric symptoms usually respond to pharmacotherapy. Recent advances in pathogenesis and newer biomarkers have promoted some progresses in HD therapy. It was suggested that an imbalance in the intracellular calcium (Ca 2+) homeostasis has a key role in neurodegenerative diseases. Recently, we showed that the interaction between intracellular signaling pathways mediated by Ca 2+ and cAMP (Ca 2+ /cAMP signaling interaction) plays as a key role in several cellular responses in mammalians, including neurosecretion and cell survival. Our studies showed that the pharmacological modulation of the Ca 2+ /cAMP signaling interaction by the combined use of the Ca 2+ channel blockers (CCB), and drugs that increase the intracellular concentration of cAMP (cAMP-enhancer compounds), increases synaptic neurotransmission and stimulates neuroprotective response. Thus, we have proposed that this new pharmacological strategy could open a new avenue for the drug development more effective and safer for treatment of the neurodegenerative diseases, including HD. Here, we discuss the perspectives of the pharmacological modulation of the Ca 2+ /cAMP signaling interaction as a new therapeutic strategy for HD.
... Huntington's disease: A model system for predictive studies of neurodegeneration HD is a neurodegenerative condition that affects 5 to 10 in every 100,000 people [25]. It affects muscle coordination and causes mental decline and cognitive impairments. ...
Computational psychiatry is a relatively new field that integrates computational models, biological knowledge, and clinical data to provide much needed predictive power to our understanding of brain disorders. The enterprise is far from straightforward, and difficulties include the definition of psychiatric illnesses, variability from subjective elements in measurement, lack of large systematic databases, and mastering subtle technical aspects behind different measurements. In this perspective article, we make the case for studying Huntington's disease as a model system of neurodegeneration that is largely exempt from many of these limitations. The combination of its well-defined genetic basis and the availability of large neuroimaging databases makes it an outstanding candidate for marrying computational and clinical approaches. We highlight particularly promising directions and sketch a roadmap for a research program, with a focus on producing clinical insights based on translating hypotheses concerning brain disorders into features to be used in predictive models.
... The estimate for the number of people with Huntington's disease is approximately 7 per 100,000 population (Enderby and Philipp 1986;Enderby 2009a;Driver-Dunckley and Caviness 2007;Walker 2007). 4.2 of those will have their speech and language affected (Enderby and Philipp 1986) and most individuals will lose the ability to communicate during the course of the disorder. ...
Background
Commissioners and providers require information relating to the number of people requiring a service in order to ensure provision is appropriate and equitable for the population they serve. There is little epidemiological evidence available regarding the prevalence of people who could benefit from augmentative and alternative communication (AAC) in the UK. AimTo determine the prevalence of people who could benefit from AAC in the UK. Methods & ProceduresAn epidemiological approach was taken to create a new estimate of need: the prevalence of the main medical conditions and specific symptoms leading to the requirement for AAC were identified from the literature and AAC specialists were consulted to estimate the number of people who may require AAC. Outcomes & ResultsA total of 97.8% of the total number of people who could benefit from AAC have nine medical conditions: dementia, Parkinson's disease, autism, learning disability, stroke, cerebral palsy, head injury, multiple sclerosis and motor neurone disease. The total expectation is that 536 people per 100000 of the UK population (approximately 0.5%) could benefit from AAC. Conclusions & ImplicationsTo provide accurate figures on the potential need for and use of AAC, data need to be consistently and accurately recorded and regularly reviewed at a community level. The existing data suggest an urgent need for more accurate and up to date information to be captured about the need for AAC in the UK to provide better services and ensure access to AAC strategies, equipment and support.
... Once a patient is diagnosed with Huntington's disease, he has an average 12-15 years until death [41]. Along with its genetic profile, Huntington's disease affects about 5-10 people in 100 thousand [42]. To fully demonstrate Diseasecard's capabilities we setup three use cases, targeting users with distinct needs, in the context of Huntington's disease. ...
Advances in "omics" hardware and software technologies are bringing rare diseases research back from the sidelines. Whereas in the past these disorders were seldom considered relevant, in the era of whole genome sequencing the direct connections between rare phenotypes and a reduced set of genes are of vital relevance. This increased interest in rare genetic diseases research is pushing forward investment and effort towards the creation of software in the field, and leveraging the wealth of available life sciences data. Alas, most of these tools target one or more rare diseases, are focused solely on a single type of user, or are limited to the most relevant scientific breakthroughs for a specific niche. Furthermore, despite some high quality efforts, the ever-growing number of resources, databases, services and applications is still a burden to this area. Hence, there is a clear interest in new strategies to deliver a holistic perspective over the entire rare genetic diseases research domain. This is Diseasecard's reasoning, to build a true lightweight knowledge base covering rare genetic diseases. Developed with the latest semantic web technologies, this portal delivers unified access to a comprehensive network for researchers, clinicians, patients and bioinformatics developers. With in-context access covering over 20 distinct heterogeneous resources, Diseasecard's workspace provides access to the most relevant scientific knowledge regarding a given disorder, whether through direct common identifiers or through full-text search over all connected resources. In addition to its user-oriented features, Diseasecard's semantic knowledge base is also available for direct querying, enabling everyone to include rare genetic diseases knowledge in new or existing information systems. Diseasecard is publicly available at http://bioinformatics.ua.pt/diseasecard/.
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