Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda
{"title":"良性成人家族性肌阵挛癫痫1型的临床诊断标准与基因检测高度一致","authors":"Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda","doi":"10.1111/ncn3.12696","DOIUrl":null,"url":null,"abstract":"The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"140 - 145"},"PeriodicalIF":0.4000,"publicationDate":"2023-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing\",\"authors\":\"Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda\",\"doi\":\"10.1111/ncn3.12696\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.\",\"PeriodicalId\":19154,\"journal\":{\"name\":\"Neurology and Clinical Neuroscience\",\"volume\":\"11 1\",\"pages\":\"140 - 145\"},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2023-01-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology and Clinical Neuroscience\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/ncn3.12696\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology and Clinical Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/ncn3.12696","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing
The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.