Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study  

作　　者：Brock Futrell Christopher Alexander Malaya Dacia Martinez Diaz Christian Alfaro Hannah Elizabeth Gustafson Subhalakshmi Chandrasekaran Rhea Mohan Phatak Bernhard Suter Charles Shannon Layne Brock Futrell;Christopher Alexander Malaya;Dacia Martinez Diaz;Christian Alfaro;Hannah Elizabeth Gustafson;Subhalakshmi Chandrasekaran;Rhea Mohan Phatak;Bernhard Suter;Charles Shannon Layne(Department of Health and Human Performance, University of Houston, Houston, USA;Center for Neuromotor and Biomechanics Research, University of Houston, Houston, USA;Department of Computer Science and Engineering, Texas A&M University, College Station, USA;Blue Bird Circle Rett Center, Texas Children’s Hospital, Houston, USA;Baylor College of Medicine Houston, USA;Center for NeuroEngineering and Cognitive Science, University of Houston, Houston, USA)

机构地区：[1]Department of Health and Human Performance, University of Houston, Houston, USA [2]Center for Neuromotor and Biomechanics Research, University of Houston, Houston, USA [3]Department of Computer Science and Engineering, Texas A&M University, College Station, USA [4]Blue Bird Circle Rett Center, Texas Children’s Hospital, Houston, USA [5]Baylor College of Medicine Houston, USA [6]Center for NeuroEngineering and Cognitive Science, University of Houston, Houston, USA

出　　处：《Case Reports in Clinical Medicine》2024年第1期25-36,共12页临床医学病理报告（英文）

摘　　要：NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic, dyskinetic, and dysmetric movements. Developing a consistent and concise consensus on the classification and evaluation of tremors is essential to forward the research and treatment of tremors. It has also been reported that some individuals with NGLY1 Deficiency demonstrate tremor, but such tremor has never been formally investigated. The primary objective of this study is to determine if an individual with NGLY1 Deficiency demonstrates an identifiable tremor during a series of arm movements and, if so, describe the frequency and power characteristics of that tremor. Arm movement kinematics were obtained using a 16-camera Vicon system, and time series trajectory waveforms for three planes of a marker placed on the hand were developed. Custom MATLAB scripts were utilized to compute Fast Fourier Transformations of the data within the identified waveform segments. A mean frequency of 2.30 Hz (SD = 1.05) with a mean power of 5.02 |P1(f)| (SD = 4.63) suggests that our participant’s kinematic data did display a persistent tremor in both hands across all tasks and movement planes. Analyses of the reaching hand and the non-reaching hand suggest the participant displayed an action tremor in both postural and intention (kinetic) tremors. Future directions should include assessing additional individuals with NGLY1 Deficiency to determine if the tremor is a distinguishable disorder behavior. Additionally, evaluating other anatomical sites, such as the elbow, head, and lower limbs, would provide further insights into the characteristics of this tremor.NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic, dyskinetic, and dysmetric movements. Developing a consistent and concise consensus on the classification and evaluation of tremors is essential to forward the research and treatment of tremors. It has also been reported that some individuals with NGLY1 Deficiency demonstrate tremor, but such tremor has never been formally investigated. The primary objective of this study is to determine if an individual with NGLY1 Deficiency demonstrates an identifiable tremor during a series of arm movements and, if so, describe the frequency and power characteristics of that tremor. Arm movement kinematics were obtained using a 16-camera Vicon system, and time series trajectory waveforms for three planes of a marker placed on the hand were developed. Custom MATLAB scripts were utilized to compute Fast Fourier Transformations of the data within the identified waveform segments. A mean frequency of 2.30 Hz (SD = 1.05) with a mean power of 5.02 |P1(f)| (SD = 4.63) suggests that our participant’s kinematic data did display a persistent tremor in both hands across all tasks and movement planes. Analyses of the reaching hand and the non-reaching hand suggest the participant displayed an action tremor in both postural and intention (kinetic) tremors. Future directions should include assessing additional individuals with NGLY1 Deficiency to determine if the tremor is a distinguishable disorder behavior. Additionally, evaluating other anatomical sites, such as the elbow, head, and lower limbs, would provide further insights into the characteristics of this tremor.

关 键 词：TREMOR NGLY Fast Fourier Transformation REACHING Hyperkinetic Movement 

分 类 号：TP3[自动化与计算机技术—计算机科学与技术]