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      Respiratory decline is integral to disease progression in Huntington's disease

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          Abstract

          Huntington's disease is an autosomal inherited monogenetic condition in which the mutation is an expansion of the cytosine-adenine-guanine (CAG) repeat sequence at the N-terminal end of the huntingtin gene [1]. More than 40 repeats are associated with neuronal dysfunction and death, predominantly within the striatum resulting in a triad of movement, behaviour and cognitive impairment; other symptoms include weight loss, sleep disturbance and respiratory dysfunction, which may or may not be of primary neurological origin [1–3]. Death occurs 15–30 years after onset of symptoms [1], usually due to pneumonia [4], yet it is not known whether respiratory dysfunction is a feature of late stage disease or whether it appears earlier in the disease evolution. Previous research suggests that dysregulation within the respiratory centre results in irregular breathing patterns [5, 6]; decreased respiratory muscle strength and lung volumes have also been identified [7] which, alongside swallow dysfunction [4], could precipitate respiratory failure. Huntington's disease is a complex long-term condition and contributing factors such as swallow dysfunction, posture, physical inactivity and reduced exercise capacity have not yet been investigated in relation to respiratory function. We conducted a cross-sectional study aiming to characterise respiratory function across all stages of disease and explore primary and secondary contributors to respiratory decline. Given one previous report of respiratory weakness in Huntington's disease, we performed a follow-on study to assess the feasibility of home-based inspiratory muscle training in Huntington's disease.

          Abstract

          Respiratory function in Huntington's disease should be monitored from middle stage to preclude respiratory failure http://ow.ly/YXTt300mIQw

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          Guidelines for the physiotherapy management of the adult, medical, spontaneously breathing patient.

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            Huntington disease: clinical care and evaluation.

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              Is Open Access

              Neurodegenerative processes in Huntington's disease

              Huntington's disease (HD) is a complex and severe disorder characterized by the gradual and the progressive loss of neurons, predominantly in the striatum, which leads to the typical motor and cognitive impairments associated with this pathology. HD is caused by a highly polymorphic CAG trinucleotide repeat expansion in the exon-1 of the gene encoding for huntingtin protein. Since the first discovery of the huntingtin gene, investigations with a consistent number of in-vitro and in-vivo models have provided insights into the toxic events related to the expression of the mutant protein. In this review, we will summarize the progress made in characterizing the signaling pathways that contribute to neuronal degeneration in HD. We will highlight the age-dependent loss of proteostasis that is primarily responsible for the formation of aggregates observed in HD patients. The most promising molecular targets for the development of pharmacological interventions will also be discussed.
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                Author and article information

                Journal
                Eur Respir J
                Eur. Respir. J
                ERJ
                erj
                The European Respiratory Journal
                European Respiratory Society
                0903-1936
                1399-3003
                August 2016
                23 June 2016
                : 48
                : 2
                : 585-588
                Affiliations
                [1 ]School of Healthcare Sciences, Cardiff University, Cardiff, UK
                [2 ]Neurosciences and Mental Health Institute, Cardiff University, Cardiff, UK
                [3 ]Cardiff Brain Repair Group, School of Biosciences, Cardiff University, Cardiff, UK
                Author notes
                Una Jones, School of Healthcare Sciences, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. E-mail: jonesuf@ 123456cardiff.ac.uk
                Author information
                http://orcid.org/0000-0001-7156-8531
                Article
                ERJ-02215-2015
                10.1183/13993003.02215-2015
                4967562
                27338194
                91e5b109-2162-4e7a-b587-edc06a02038e
                Copyright ©ERS 2016

                ERJ Open articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

                History
                : 13 December 2015
                : 28 April 2016
                Funding
                Funded by: European Huntington's Disease Network http://doi.org/
                Funded by: Physiotherapy Research Foundation UK http://doi.org/
                Funded by: Research Capacity Building Collaboration Wales http://doi.org/10.13039/501100000689
                Categories
                Agora
                Research Letters

                Respiratory medicine
                Respiratory medicine

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