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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials

Tojima, Maya 京都大学 DOI:10.14989/doctor.k23774

2022.03.23

概要

【目的】良性成人型家族性ミオクローヌスてんかん（benign adult familial myoclonus epilepsy: BAFME）は，中年以降に皮質振戦と呼ばれる律動性の皮質性ミオクローヌス（cortical myoclonus: CM）と，稀発てんかん発作をきたす常染色体優性遺伝性の神経疾患で，日本で多くみられる．一般にCM の神経生理学的特徴の一つは，正中神経刺激による体性感覚誘発電位（somatosensory evoked potential: SEP）の早期皮質成分P25，N35 が高振幅となる巨大SEP であるが，CM をきたす疾患・病態をさらに鑑別するバイオマーカーは確立されていない．また，正常SEP の潜時20 ms 以降に高周波律動（high frequency oscillation: HFO）を認めるが，巨大SEP のP25 成分に重畳するHFO（P25-HFO）の有無や意義は検証されていない．P25-HFO が BAFME の診断バイオマーカーとなる可能性とその発生機構を検討した．

【方法】2008〜2018 年に京都大学医学部附属病院で正中神経刺激にて巨大SEP を認め， CMと臨床診断された症例を後方視的に検討した．巨大SEP 波形に400−1000Hz のbandpass filter を適応し，得られた律動波形が baseline の±4SD 以上の振幅で 4 回（2 周期）以上連続し，その終了潜時が22 ms 以降の場合にP25-HFO ありと定義した．臨床情報，SEP 所見を，1）BAFME 群と他の CM 群，および 2）P25-HFO の有無での 2 群，でそれぞれ比較した．3）さらに，1）でBAFME 群と他のCM 群で有意差のあった因子について，BAFME診断における正確性を算出した．

【結果】対象49 例（平均年齢55.8±18.3 歳）の内訳は，BAFME16 例，その他のCM33 例だった．1）BAFME 群は他の CM 群と比較して，不随意運動の発症年齢が有意に低く
（p=0.043），抗てんかん薬の使用率が高く（p=0.0035），巨大SEP のN35 振幅（p=0.0001）， filter 適応後の波形の振幅最大値（p<0.0001）が高かった．BAFME 群は全例でP25-HFO を認め，他のCM 群より有意にその出現率が高かった（p<0.0001）．2）一方，P25-HFO を認める患者群では有意に BAFME が多く（p<0.0001），不随意運動の罹病期間が長く
（p=0.0035），巨大 SEP のP25 振幅（p=0.01），N35 振幅（p<0.0001），filter 適応後の波形の振幅最大値（p<0.0001）が高かった．3）BAFME の診断正確性は，不随意運動の発症年齢，P25 振幅，N35 振幅，filter 適応後の波形の振幅最大値と比べて，P25-HFO で最も高かった（感度100%, 特異度87.9%, 陽性的中率80.0%, 陰性的中率100%）．

【結論】正中神経刺激の巨大SEP に重畳するP25-HFO の存在はBAFME の診断を強く示唆した．P25-HFO は突発性脱分極変位である巨大P25 に起因する大脳皮質の過剰興奮性を反映し，かつ BAFME 患者において特異的に認めたことから，その発生機構は BAFME の特徴である皮質振戦の律動性との関連が示唆された．

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