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利用惯性测量单元对 3 型和 10 型脊髓小脑共济失调患者进行时空步态分析:一项对比研究。

Spatiotemporal Gait Analysis of Patients with Spinocerebellar Ataxia Types 3 and 10 Using Inertial Measurement Units: A Comparative Study.

机构信息

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

Department of Neurology, University Hospital Schleswig-Holstein and Kiel University, Kiel, Germany.

出版信息

Cerebellum. 2024 Oct;23(5):2109-2121. doi: 10.1007/s12311-024-01709-7. Epub 2024 Jun 13.

DOI:10.1007/s12311-024-01709-7
PMID:38869768
Abstract

Given the high morbidity related to the progression of gait deficits in spinocerebellar ataxias (SCA), there is a growing interest in identifying biomarkers that can guide early diagnosis and rehabilitation. Spatiotemporal parameter (STP) gait analysis using inertial measurement units (IMUs) has been increasingly studied in this context. This study evaluated STP profiles in SCA types 3 and 10, compared them to controls, and correlated them with clinical scales. IMU portable sensors were used to measure STPs under four gait conditions: self-selected pace (SSP), fast pace (FP), fast pace checking-boxes (FPCB), and fast pace with serial seven subtractions (FPS7). Compared to healthy subjects, both SCA groups had higher values for step time, variability, and swing time, with lower values for gait speed, cadence, and step length. We also found a reduction in speed gain capacity in both SCA groups compared to controls and an increase in speed dual-task cost in the SCA10 group. However, there were no significant differences between the SCA groups. Swing time, mean speed, and step length were correlated with disease severity, risk of falling and functionality in both clinical groups. In the SCA3 group, fear of falling was correlated with cadence. In the SCA10 group, results of the Montreal cognitive assessment test were correlated with step time, mean speed, and step length. These results show that individuals with SCA3 and SCA10 present a highly variable, short-stepped, slow gait pattern compared to healthy subjects, and their gait quality worsened with a fast pace and dual-task involvement.

摘要

鉴于与小脑共济失调相关的步态缺陷进展相关的高发病率,人们越来越关注识别能够指导早期诊断和康复的生物标志物。在这种情况下,使用惯性测量单元(IMU)的时空参数(STP)步态分析越来越受到研究。本研究评估了 SCA 类型 3 和 10 的 STP 谱,将其与对照组进行比较,并将其与临床量表相关联。使用 IMU 便携式传感器在四种步态条件下测量 STP:自主选择速度(SSP)、快速速度(FP)、快速速度检查框(FPCB)和快速速度连续七次减法(FPS7)。与健康受试者相比,两组 SCA 患者的步时、变异性和摆动时间均较高,而行走速度、步频和步长均较低。我们还发现,与对照组相比,两组 SCA 患者的速度增益能力均降低,而 SCA10 组的速度双重任务成本增加。然而,两组 SCA 患者之间没有显著差异。摆动时间、平均速度和步长与两组临床患者的疾病严重程度、跌倒风险和功能相关。在 SCA3 组中,对跌倒的恐惧与步频相关。在 SCA10 组中,蒙特利尔认知评估测试的结果与步时、平均速度和步长相关。这些结果表明,与健康受试者相比,SCA3 和 SCA10 个体表现出高度可变、短步、缓慢的步态模式,并且随着快速步伐和双重任务的参与,其步态质量恶化。

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Mov Disord. 2022 Nov;37(11):2295-2301. doi: 10.1002/mds.29206. Epub 2022 Aug 31.
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A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.一名患有婴儿期起病的小脑共济失调患者中的一种新发错义NPTX1变异体。
Mov Disord. 2022 Aug;37(8):1774-1776. doi: 10.1002/mds.29054. Epub 2022 May 12.
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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
NPTX1突变引发内质网应激并导致常染色体显性遗传性小脑共济失调。
Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407.
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Cerebellum. 2021 Dec;20(6):946-947. doi: 10.1007/s12311-021-01258-3. Epub 2021 Mar 17.
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