Objective

In this study, we performed analysis of brainstem reflexes and movement disorders using surface polymyogram in L-2-hydroxyglutaric aciduria (L2HGA). We also reviewed all cases in the literature with detailed clinical and radiological description to analyze the anatomical correlates of involuntary movements.

Patients and method

We performed surface electromyography of appropriate muscles, long-loop reflexes, and somatosensory evoked potentials and analyzed the neuroimaging findings in patients with L2HGA and recorded blink reflex (BR), auditory startle response (ASR), and startle response after somatosensory stimuli (SSS) in patients and healthy subjects. We also performed a systematic literature search to identify the association of neuroimaging findings and movements disorders in previous patients with L2HGA.

Results

Thirteen patients were enrolled in the study. Among them, ten had low-amplitude postural tremor with a frequency between 4 and 7 Hz. The tremor was predominant on distal parts of the upper extremities. Postural tremor was accompanied by negative myoclonus in one-third. The BR, ASR, and SSS, all, were hypoactive. There was a close association of postural tremor with cerebellar atrophy in patients who participated in this study and by the analysis of the previously reported patients.

Conclusions

Low-amplitude postural tremor is common in L2HGA. It is related with cerebellar atrophy. Although the neuroimaging shows no overt lesions at the brainstem, there is a functional inhibition at this level.

中文翻译：

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L-2-羟基戊二酸尿症的体位震颤与小脑萎缩有关

客观的

在这项研究中，我们使用 L-2-羟基戊二酸尿 (L2HGA) 中的表面多肌图对脑干反射和运动障碍进行了分析。我们还回顾了文献中的所有病例，并附有详细的临床和放射学描述，以分析不自主运动的解剖学相关性。

患者和方法

我们对适当的肌肉、长环反射和体感诱发电位进行了表面肌电图检查，并分析了 L2HGA 患者的神经影像学结果，并记录了眨眼反射 (BR)、听觉惊吓反应 (ASR) 和体感刺激后的惊吓反应 (SSS)在患者和健康受试者中。我们还进行了系统的文献检索，以确定既往 L2HGA 患者的神经影像学检查结果与运动障碍之间的关联。

结果

十三名患者参加了这项研究。其中10人出现频率在4-7赫兹之间的低振幅体位性震颤。震颤主要发生在上肢远端。三分之一的体位性震颤伴有阴性肌阵挛。BR、ASR 和 SSS 均处于低活跃状态。在参与本研究的患者中以及对先前报道的患者的分析中，体位性震颤与小脑萎缩密切相关。

结论

L2HGA 常见低振幅体位性震颤。它与小脑萎缩有关。尽管神经影像学显示脑干没有明显的损伤，但在这个水平上存在功能抑制。