Phillips Matthew C L, McManus Eileen J, Brinkhuis Martijn, Romero-Ferrando Beatriz
Department of Neurology, Waikato Hospital, Hamilton, New Zealand.
Mental Health Services for Older People, Tauranga Hospital, Tauranga, New Zealand.
Front Behav Neurosci. 2022 Jul 29;16:931636. doi: 10.3389/fnbeh.2022.931636. eCollection 2022.
Huntington's disease (HD) is a progressive, fatal neurodegenerative disorder with limited treatment options. Substantial evidence implicates mitochondria dysfunction in brain and skeletal muscle in the pathogenesis of HD. Metabolic strategies, such as fasting and ketogenic diets, theoretically enhance brain and muscle metabolism and mitochondria function, which may improve the clinical symptoms of HD. We report the case of a 41-year-old man with progressive, deteriorating HD who pursued a time-restricted ketogenic diet (TRKD) for 48 weeks. Improvements were measured in his motor symptoms (52% improvement from baseline), activities of daily living (28% improvement), composite Unified HD Rating Scale (cUHDRS) score (20% improvement), HD-related behavior problems (apathy, disorientation, anger, and irritability improved by 50-100%), and mood-related quality of life (25% improvement). Cognition did not improve. Weight remained stable and there were no significant adverse effects. This case study is unique in that a patient with progressive, deteriorating HD was managed with a TRKD, with subsequent improvements in his motor symptoms, activities of daily living, cUHDRS score, most major HD-related behavior problems, and quality of life. Our patient remains dedicated to his TRKD, which continues to provide benefit for him and his family.
亨廷顿舞蹈症(HD)是一种进行性、致命的神经退行性疾病,治疗选择有限。大量证据表明,大脑和骨骼肌中的线粒体功能障碍在HD的发病机制中起作用。禁食和生酮饮食等代谢策略理论上可增强大脑和肌肉代谢以及线粒体功能,这可能改善HD的临床症状。我们报告了一例41岁进行性病情恶化的HD男性患者,他采用限时生酮饮食(TRKD)48周。结果显示其运动症状(较基线改善52%)、日常生活活动能力(改善28%)、综合统一HD评定量表(cUHDRS)评分(改善20%)、HD相关行为问题(冷漠、定向障碍、愤怒和易怒改善50 - 100%)以及与情绪相关的生活质量(改善25%)均有所改善。认知功能未改善。体重保持稳定,且无明显不良反应。该病例研究的独特之处在于,一名进行性病情恶化的HD患者通过TRKD进行管理,随后其运动症状、日常生活活动能力、cUHDRS评分、大多数主要的HD相关行为问题以及生活质量均得到改善。我们的患者仍坚持其TRKD,这继续为他和他的家人带来益处。