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New biomarkers for benign adult familial myoclonus epilepsy
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- Tojima Maya
- Department of Neurology, Kyoto University Graduate School of Medicine
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- Kobayashi Katsuya
- Department of Neurology, Kyoto University Graduate School of Medicine
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- Hitomi Takefumi
- Department of Clinical Laboratory Medicine, Kyoto University Graduate School of Medicine
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- Usami Kiyohide
- Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
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- Neshige Shuichiro
- Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences
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- Matsuhashi Masao
- Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
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- Ikeda Akio
- Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
Bibliographic Information
- Other Title
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- BAFMEの臨床神経生理学的新規バイオマーカー
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Description
<p>Benign adult familial myoclonus epilepsy (BAFME) is one of the common diseases, that cause cortical reflex myoclonus (CM), especially manifesting rhythmic tremor as cortical tremor. Electrophysiologically, BAFME patients show features of cortical hyperexcitability, i.e., enlarged P25 or N35 amplitudes in somatosensory evoked potentials (giant SEPs), long-loop reflex (C-reflex), and spikes preceding myoclonus by a jerk-locked back averaging method. In EEG, they generally have interictal epileptiform discharges, photo-paroxysmal response, and increased amplitude and sharpness of background activities (anecdotally called “spiky alpha”). These findings suggest a cortical origin of the myoclonus. However, there had been no useful diagnostic biomarkers that could differentiate BAFME from other CM diseases. Recently, we revealed that high-frequency oscillations superimposed on giant SEP P25 (P25-HFOs) could be a reliable biomarker for the diagnosis of BAFME. We analyzed 49 CM patients (16 with BAFME and 33 with other CM) with giant SEPs. BAFME was reliably diagnosed using P25-HFOs with high sensitivity (100%) and specificity (87.9%). P25-HFOs may reflect cortical hyperexcitability partly due to paroxysmal depolarization shifts in epileptic neuronal activities and higher degrees of tremulousness than those in other CM. We also compared EEG posterior background activities between BAFME and other CM. BAFME patients had significantly higher beta power in the posterior area, which may be responsible for the appearance of “spiky alpha” and this could be a convenient biomarker for diagnosing BAFME. We introduce an overview of widely utilized new diagnostic biomarkers of BAFME distinct from other CM.</p>
Journal
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- Japanese Journal of Clinical Neurophysiology
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Japanese Journal of Clinical Neurophysiology 51 (2), 51-56, 2023-04-01
Japanese Society of Clinical Neurophysiology
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Keywords
Details 詳細情報について
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- CRID
- 1390014183334706304
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- ISSN
- 2188031X
- 13457101
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- Text Lang
- ja
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- Article Type
- journal article
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- Data Source
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- JaLC
- KAKEN
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- Abstract License Flag
- Disallowed