Robertson Erin E, Hall Deborah A, Pal Gian, Ouyang Bichun, Liu Yuanqing, Joyce Jessica M, Berry-Kravis Elizabeth, O'Keefe Joan A
Department of Cell and Molecular Medicine, Rush University Medical Center, Chicago, IL, United States of America.
Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, United States of America.
Clin Park Relat Disord. 2020 Jan 23;3:100040. doi: 10.1016/j.prdoa.2020.100040. eCollection 2020.
Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease affecting carriers of a 55-200 CGG repeat in the gene, may receive an initial diagnosis of Parkinson's disease (PD) or essential tremor (ET) due to overlapping motor symptoms. Therefore, tremor and bradykinesia were compared in these disorders using quantitative tremorography.
The inertial sensor based Kinesia system was used to quantify upper extremity tremor and bradykinesia in participants with FXTAS ( = 25), PD ( = 23), ET ( = 18) and controls ( = 20) and regression analysis was performed to determine whether tremorography measures distinguished between the groups. The FXTAS Rating scale (FXTAS-RS) was administered to determine whether sub-score items on the clinician rated scale correlated with tremorography variables.
FXTAS participants had reduced finger tap speed compared to those with ET, and ET had increased kinetic tremor compared to PD. Higher kinetic tremor distinguished FXTAS from PD ( = .02), and lower finger tap speed distinguished FXTAS from ET ( = .004). FXTAS-RS tremor and bradykinesia items correlated with tremorography measures ( = .005 to <0.0001).
This is the first quantitative study to compare tremor and bradykinesia in FXTAS, PD and ET. Kinetic tremor and bradykinesia measures using a quantitative inertial sensor system distinguished FXTAS from PD and ET, respectively. Such technologies may be useful for detecting precise tremor and bradykinesia abnormalities and distinguishing the tremor and bradykinesia profiles in each of these disorders.
脆性X相关震颤/共济失调综合征（FXTAS）是一种神经退行性疾病，影响FMR1基因中存在55 - 200个CGG重复序列的携带者，由于运动症状重叠，其最初可能被诊断为帕金森病（PD）或特发性震颤（ET）。因此，本研究使用定量震颤描记法比较了这些疾病中的震颤和运动迟缓。
使用基于惯性传感器的Kinesia系统对25例FXTAS患者、23例PD患者、18例ET患者和20例对照者的上肢震颤和运动迟缓进行量化，并进行回归分析以确定震颤描记法测量值能否区分不同组。采用FXTAS评定量表（FXTAS - RS）来确定临床评定量表上的子评分项目是否与震颤描记法变量相关。
与ET患者相比，FXTAS患者的手指敲击速度降低，与PD患者相比，ET患者的动态震颤增加。较高的动态震颤可将FXTAS与PD区分开来（P = 0.02），较低的手指敲击速度可将FXTAS与ET区分开来（P = 0.004）。FXTAS - RS的震颤和运动迟缓项目与震颤描记法测量值相关（P = 0.005至<0.0001）。
这是第一项比较FXTAS、PD和ET中震颤和运动迟缓的定量研究。使用定量惯性传感器系统测量的动态震颤和运动迟缓分别将FXTAS与PD和ET区分开来。此类技术可能有助于检测精确的震颤和运动迟缓异常，并区分这些疾病中各自的震颤和运动迟缓特征。
