From the Department of Neurophysiopathology and Epilepsy Centre (S.F., L.C., E.V., F.P., G.A.), IRCCS Foundation C. Besta Neurological Institute, Milan; Unit of Neurology (R.M.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Epilepsy Centre (A.M.), Department of Neuroscience, University of Messina; IRCCS Institute of Neurological Sciences and Department of Biomedical and Neuromotor Sciences (P.T.), University of Bologna; Epilepsy Centre (A.L.N.), Azienda Ospedaliero Universitaria Consorziale, Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Policlinico, Bari; Child Neurology Unit (G.G.), IRCCS delle Scienze Neurologiche, Bologna; Department of Neurology and Psychiatry (A.T.G.), Neurology Unit, La Sapienza University, Rome; Epilepsy Center (G.C.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; University of Bologna (C.A.T.); Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo; and Istituto Gaslini (F.Z.), Laboratory of Neurogenetics, Genoa, Italy. Coinvestigators are listed on the Neurology® Web site at www.neurology.org.
Neurology. 2014 Feb 4;82(5):405-11. doi: 10.1212/WNL.0000000000000077. Epub 2014 Jan 2.
To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy.
We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis.
We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings.
Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized.
利用意大利癫痫联盟遗传学委员会开发的数据库，定义意大利进行性肌阵挛性癫痫（PME）的临床谱和病因。
我们收集了 25 家意大利癫痫中心转诊患者的临床和实验室数据，无论是否确定了阳性病因因素。使用两步聚类分析对来源不明的 PME 进行分组。
我们收集了 204 名患者的临床数据，其中 77 名患有 Unverricht-Lundborg 病，37 名患有 Lafora 体病；31 名患者因罕见的遗传原因患有 PME，主要是神经元蜡样脂褐质沉积症。还有 2 名患者患有乳糜泻。尽管进行了广泛的调查，但我们仍未发现 57 名患者的明确病因。聚类分析表明，这些患者可以分为 2 个以发病年龄、肌阵挛发病年龄、先前的精神运动迟缓、发作特征、光敏性、除 PME 主要定义之外的其他相关体征以及病理 MRI 发现为特征的聚类。
有关 PME 不同遗传病因分布的信息可为更新的诊断方案提供框架。原因不明的 PME 患者的表型差异很大。存在单独的聚类表明，新型 PME 仍有待临床和遗传特征描述。
