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      Impact of somato-cognitive coordination therapy on activities of daily living in a patient with Huntington’s disease

      case-report

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          Summary

          Huntington’s disease (HD) causes progressive neurodegeneration, impairing activities of daily living (ADL). Treatment focuses primarily on symptomatic relief through multidisciplinary approaches. This case report examines the impact of somato-cognitive coordination therapy (SCCT) on ADL in a patient with HD. A woman in her 40s with early-stage HD underwent 22 SCCT sessions using the mediVR KAGURA (mediVR), a virtual reality technology-based medical device over 20 months. Her total functional capacity rating scale improved from 10 to 11 and her Barthel Index improved from 90 to 100 within 3 months, allowing her to continue working. These improvements were sustained for 17 months. Objective measures like the single-leg stance test showed consistent progress. Improved cognitive function and psychiatric well-being were also suggested by the Trail Making Test and a return to hobbies like hiking. SCCT may have the potential to improve ADL and could complement multidisciplinary care strategy for HD patients.

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          Huntington's disease: a clinical review

          Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100 000. It is characterized by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein. Early macroscopic changes are seen in the striatum with involvement of the cortex as the disease progresses. There are currently no disease modifying treatments; therefore supportive and symptomatic management is the mainstay of treatment. In recent years there have been significant advances in understanding both the cellular pathology and the macroscopic structural brain changes that occur as the disease progresses. In the last decade there has been a large growth in potential therapeutic targets and clinical trials. Perhaps the most promising of these are the emerging therapies aimed at lowering levels of mutant huntingtin. Antisense oligonucleotide therapy is one such approach with clinical trials currently under way. This may bring us one step closer to treating and potentially preventing this devastating condition.
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            Administration and interpretation of the Trail Making Test.

            Measurement of cognitive functions is an increasingly important goal for clinicians and researchers. Many neuropsychological test batteries are comprehensive and require specialized training to administer and interpret. The Trail Making Test is an accessible neuropsychological instrument that provides the examiner with information on a wide range of cognitive skills and can be completed in 5-10 min. Its background, psychometric properties, administration procedures and interpretive guidelines are provided in this protocol.
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              Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities

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                Author and article information

                Contributors
                Journal
                BMJ Case Rep
                BMJ Case Rep
                bmjcr
                bcr
                BMJ Case Reports
                BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
                1757-790X
                2024
                04 December 2024
                : 17
                : 12
                : e262695
                Affiliations
                [1 ]departmentDepartment of Neurology and Clinical Rehabilitation , mediVR Rehabilitation Center Tokyo , Chuo-ku, Tokyo, Japan
                [2 ]departmentOffice of Research and Academia-Government-Community Collaboration, Headquarters for Open Innovation, Department of Academia-Government-Industry Collaboration, Biodesign Division , Hiroshima University , Hiroshima, Japan
                [3 ]departmentDepartment of Neurology and Clinical Rehabilitation , mediVR Rehabilitation Center Osaka , Toyonaka, Osaka, Japan
                [4 ]departmentCentre for Community-Based Healthcare Research and Education , Shimane University Faculty of Medicine , Izumo, Shimane, Japan
                Author notes

                mediVR KAGURA is a medical device of mediVR, Inc. MH is a director and holds private equity in mediVR, Inc. KS and YT are full-time employees of mediVR, Inc. mediVR, Inc. runs the mediVR Rehabilitation Center. MH is a director and holds private equity in mediVR, Inc. KS and YT are full-time employees of mediVR, Inc. The lead clinician has ensured the veracity of all author declarations of conflict of interest and author disclosures.

                Author information
                http://orcid.org/0000-0002-5353-2882
                Article
                bcr-2024-262695
                10.1136/bcr-2024-262695
                11660046
                39631922
                5373221e-0fd7-4e63-a560-696df4e79c93
                Copyright © BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group.

                This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

                History
                : 08 August 2024
                : 07 November 2024
                Categories
                Case Report
                Neurology

                movement disorders (other than parkinsons),parkinson's disease,cognitive behavioural psychotherapy,neuro genetics

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