Myoclonus generators in sialidosis

IF 2 Q3 NEUROSCIENCES

Clinical Neurophysiology Practice Pub Date : 2022-01-01 DOI:10.1016/j.cnp.2022.05.004

Felipe Vial , Patrick McGurrin , Sanaz Attaripour , Alesandra d'Azzo , Cynthia J. Tifft , Camilo Toro , Mark Hallett

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Abstract

Objective

Sialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently observed in many patients. We present evidence of a subcortical basis for synchronous myoclonic phenomena.

Methods

Electromyographic investigations were undertaken in two molecularly and biochemically confirmed patients with sialidosis type-1.

Results

The EMG recordings showed clear episodes of bilaterally synchronous myoclonic activity in contralateral homologous muscles. We also observed a high muscular-muscular coherence with near-zero time-lag between these muscles.

Conclusion

The absence of coherence phase lag between the right-and-left homologous muscles during synchronous events indicates that a unilateral cortical source cannot fully explain the myoclonic activity. There must exist a subcortical mechanism for bilateral synchronization accounting for this phenomenon.

Significance

Understanding this mechanism may illuminate cortical-subcortical relationships in myoclonus.

Abstract Image

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唾液中毒的肌阵挛产生者

目的脂肪肝是一种先天性代谢异常。有证据表明，在这种疾病中观察到的肌阵挛运动有皮层起源，但这一机制并不能完全解释在许多患者中经常观察到的双侧同步肌阵挛活动。我们提出的证据表明，皮层下基础的同步肌阵挛现象。方法对2例经分子及生化证实的1型唾液中毒患者进行肌电图检查。结果肌电图显示对侧同源肌有明显的双侧同步肌阵挛活动。我们还观察到高度的肌肉-肌肉一致性，这些肌肉之间的时间滞后接近于零。结论在同步事件中，左右同源肌肉之间不存在相干相位滞后，表明单侧皮质源不能完全解释肌阵挛活动。一定存在一种皮层下的双侧同步机制来解释这种现象。了解这一机制有助于阐明肌阵挛的皮层-皮层下关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Neurophysiology Practice NEUROSCIENCES-

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

71 days

期刊介绍： Clinical Neurophysiology Practice (CNP) is a new Open Access journal that focuses on clinical practice issues in clinical neurophysiology including relevant new research, case reports or clinical series, normal values and didactic reviews. It is an official journal of the International Federation of Clinical Neurophysiology and complements Clinical Neurophysiology which focuses on innovative research in the specialty. It has a role in supporting established clinical practice, and an educational role for trainees, technicians and practitioners.