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遗传性痉挛性截瘫的静态平衡:一项横断面研究。

Static Balance in Hereditary Spastic Paraplegias: a Cross-sectional Study.

作者信息

Cubillos-Arcila Diana Maria, Martins Valéria Feijó, Zanardi Ana Paula Janner, Machado Gustavo Dariva, Burguêz Daniela, Gomeñuka Natalia Andrea, Peyré-Tartaruga Leonardo Alexandre, Saute Jonas Alex Morales

机构信息

Neurogenetics: Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Graduate Program in Medicine: Medical Sciences, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, Brazil.

出版信息

Cerebellum. 2024 Feb;23(1):162-171. doi: 10.1007/s12311-023-01518-4. Epub 2023 Jan 24.

Abstract

Motor and somatosensory pathway dysfunction due to degeneration of long tracts in hereditary spastic paraplegias (HSP) indicates that postural abnormalities may be a relevant disease feature. However, balance assessments have been underutilized to study these conditions. How does the static balance of individuals with HSP with eyes open and closed differ from healthy controls, and how does it relate to disease severity? This cross-sectional case-control study assessed the static balance of 17 subjects with genetically confirmed HSP and 17 healthy individuals, evaluating the center of pressure (COP) variables captured by a force platform. The root-mean-square of velocities and mean of displacements amplitudes in mediolateral and anteroposterior axes were correlated with disease severity. All COP parameters' performances were significantly impaired in HSP subjects compared to controls (p < 0.001 for all comparisons). COP with eyes open and closed differed for all variables within the HSP group, whereas in the control group, differences were observed only for anteroposterior velocity and amplitude. Spastic Paraplegia Rating Scale presented moderate direct correlations with the most COP variables (Rho =  - 0.520 to - 0.736). HSP individuals presented significant postural instability with eyes open and to a greater extent with eyes closed, corroborating the clinical findings of somatosensorial and proprioceptive pathways dysfunction. The degrees of proprioceptive and motor impairments are mutually correlated, suggesting that similar pathophysiological mechanisms operate for the degeneration of these long tracts. COP parameters can be seen as disease severity biomarkers of HSP, and they should be assessed in future clinical trials.

摘要

遗传性痉挛性截瘫(HSP)中长束变性导致的运动和躯体感觉通路功能障碍表明,姿势异常可能是一种相关的疾病特征。然而,平衡评估在研究这些病症时未得到充分利用。HSP患者睁眼和闭眼时的静态平衡与健康对照者有何不同,以及它与疾病严重程度有何关系?这项横断面病例对照研究评估了17名基因确诊的HSP患者和17名健康个体的静态平衡,通过测力平台评估压力中心(COP)变量。在内外侧和前后轴上的速度均方根和位移幅度均值与疾病严重程度相关。与对照组相比,HSP患者的所有COP参数表现均显著受损(所有比较p < 0.001)。HSP组内所有变量的睁眼和闭眼COP均不同,而在对照组中,仅在前后速度和幅度上观察到差异。痉挛性截瘫评定量表与大多数COP变量呈中度直接相关性(Rho = -0.520至-0.736)。HSP个体睁眼时存在明显的姿势不稳,闭眼时更明显,这证实了躯体感觉和本体感觉通路功能障碍的临床发现。本体感觉和运动障碍程度相互关联,表明这些长束变性存在相似的病理生理机制。COP参数可被视为HSP的疾病严重程度生物标志物,应在未来的临床试验中进行评估。

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