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首页> 外文期刊>Journal of neurology >Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mltochoedrial disease and Its pathological consequences
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Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mltochoedrial disease and Its pathological consequences

机译：步态特征离散与线粒体疾病的m.3243A> G和m.8344A> G变体及其病理后果有关

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摘要

Mitochondrial disease is complex and variable, making diagnosis and management challenging. The situation is complicated by lack of sensitive outcomes of disease severity, progression, contributing pathology and clinical efficacy. Gait is emerging as a sensitive marker of pathology; however, to date, no studies have quantified gait in mitochondrial disease. In this cross-sectional study, we quantified gait characteristics in 24 patients with genetically confirmed mitochondrial disease (m.3243A>G and m.8344A>G) and 24 controls. Gait was measured using an instrumented walkway according to a predefined model with five domains hypothesised to reflect independent features of the neural control of gait in mitochondrial disease, including: pace (step velocity and step length); rhythm (step time); variability (step length and step time variability); asymmetry (step time asymmetry); and postural stability (step width, step width variability and step length asymmetry). Gait characteristics were compared with respect to controls and genotype. Additional measures of disease severity, pathophysiology and imaging were also compared to gait to verify the validity of gait characteristics. Discrete gait characteristics differed between controls and mitochondrial disease groups, even in relatively mildly affected patients harbouring the m.3243A>G mutation. The pattern of gait impairment (increased variability and reduced postural control) was supported by significant associations with measures of disease severity, progression, pathophysiology and radiological evidence of cerebellar atrophy. Discrete gait characteristics may help describe functional deficits in mitochondrial disease, enhance measures of disease severity and pathology, and could be used to document treatment effects of novel therapies.
机译：线粒体疾病复杂多变，使诊断和管理面临挑战。由于缺乏疾病严重程度，进展，病理学和临床疗效的敏感结果，使情况变得复杂。步态正在成为病理学的敏感标志。然而，迄今为止，尚无研究量化线粒体疾病的步态。在这项横断面研究中，我们对24名经遗传学证实的线粒体疾病（m.3243A> G和m.8344A> G）的患者和24名对照的步态特征进行了量化。根据预先定义的模型，使用仪器式人行道对步态进行测量，并假设五个域反映线粒体疾病中步态神经控制的独立特征，包括：步速（步速和步长）;节奏（步长）;可变性（步长和步长时间可变性）;不对称性（步进时间不对称性）;和姿势稳定性（步长，步长变异性和步长不对称）。将步态特征相对于对照和基因型进行比较。还比较了疾病严重程度，病理生理学和影像学的其他指标与步态进行比较，以验证步态特征的有效性。对照组和线粒体疾病组之间的步态离散特征也有所不同，即使在患有m.3243A> G突变的病情较轻的患者中也是如此。步态障碍的模式（变异性增加和姿势控制降低）与疾病严重程度，进展，病理生理和小脑萎缩的放射学证据的显着相关性得到支持。离散的步态特征可能有助于描述线粒体疾病的功能缺陷，增强疾病严重程度和病理学的指标，并可用于记录新疗法的治疗效果。

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