Vilas-Boas Maria do Carmo, Rocha Ana Patrícia, Cardoso Márcio Neves, Fernandes José Maria, Coelho Teresa, Cunha João Paulo Silva
INESC TEC, FEUP and LABIOMEP, University of Porto, Porto, Portugal.
Unidade Corino de Andrade and Neurophysiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Front Neurol. 2020 Nov 23;11:605282. doi: 10.3389/fneur.2020.605282. eCollection 2020.
Hereditary amyloidosis associated with transthyretin V30M (ATTRv V30M) is a rare and inherited multisystemic disease, with a variable presentation and a challenging diagnosis, follow-up and treatment. This condition entails a definitive and progressive motor impairment that compromises walking ability from near onset. The detection of the latter is key for the disease's diagnosis. The aim of this work is to perform quantitative 3-D gait analysis in ATTRv V30M patients, at different disease stages, and explore the potential of the obtained gait information for supporting early diagnosis and/or stage distinction during follow-up. Sixty-six subjects (25 healthy controls, 14 asymptomatic ATTRv V30M carriers, and 27 symptomatic patients) were included in this case-control study. All subjects were asked to walk back and forth for 2 min, in front of a Kinect v2 camera prepared for body motion tracking. We then used our own software to extract gait-related parameters from the camera's 3-D body data. For each parameter, the main subject groups and symptomatic patient subgroups were statistically compared. Most of the explored gait parameters can potentially be used to distinguish between the considered group pairs. Despite of statistically significant differences being found, most of them were undetected to the naked eye. Our Kinect camera-based system is easy to use in clinical settings and provides quantitative gait information that can be useful for supporting clinical assessment during ATTRv V30M onset detection and follow-up, as well as developing more objective and fine-grained rating scales to further support the clinical decisions.
与转甲状腺素蛋白V30M(ATTRv V30M)相关的遗传性淀粉样变性是一种罕见的遗传性多系统疾病,表现多样,诊断、随访及治疗颇具挑战性。这种疾病会导致明确且进行性的运动功能障碍,发病初期即会影响行走能力。对后者的检测是疾病诊断的关键。本研究的目的是对处于不同疾病阶段的ATTRv V30M患者进行三维步态定量分析,并探索所获步态信息在支持早期诊断和/或随访期间疾病分期方面的潜力。本病例对照研究纳入了66名受试者(25名健康对照者、14名无症状ATTRv V30M携带者和27名有症状患者)。所有受试者被要求在为人体运动跟踪准备好的Kinect v2摄像头前前后行走2分钟。然后我们使用自己开发的软件从摄像头的三维人体数据中提取与步态相关的参数。对每个参数,对主要受试者组和有症状患者亚组进行了统计学比较。大多数所探索的步态参数有可能用于区分所考虑的组对。尽管发现了统计学上的显著差异,但其中大多数差异肉眼难以察觉。我们基于Kinect摄像头的系统在临床环境中易于使用,可提供定量的步态信息,这对于在ATTRv V30M发病检测和随访期间支持临床评估,以及制定更客观、更精细的评分量表以进一步支持临床决策可能有用。