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Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy

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Abstract

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.

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Authors and Affiliations

  1. Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Aysegul Gunduz, Damla Tezer & Meral E. Kiziltan

  2. Department of Pediatrics Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

    Ayse Cigdem Aktuglu-Zeybek, Ece Oge Enver, Tanyel Zubarioglu & Ertugrul Kiykim

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  1. Aysegul Gunduz
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Correspondence to Aysegul Gunduz.

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Gunduz, A., Aktuglu-Zeybek, A.C., Tezer, D. et al. Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy. Neurol Sci 43, 2051–2058 (2022). https://doi.org/10.1007/s10072-021-05555-x

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