Department of Neurology, Seoul National University Hospital, Seoul, South Korea.
Laboratory for Neurotherapeutics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Ann Clin Transl Neurol. 2021 Dec;8(12):2319-2326. doi: 10.1002/acn3.51483. Epub 2021 Nov 27.
Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations, we compared the phenotype of our patient with previously reported phenotypes. We identified DHDDS (c.638G>A, p. Ser213Asn) as a likely pathogenic variant. The literature review revealed 15 PME patients with DHDDS mutations from 13 unrelated families. According to previous studies, late-onset patients tend to have a slow-progressive disease course. Although his myoclonus and ataxia were adult onset, our patient experienced rapid disease aggravation.
进行性肌阵挛癫痫（PME）是一种异质性神经遗传疾病，表现为进行性肌阵挛、癫痫发作和共济失调。我们报告了一例由新型 DHDDS 变异引起的 PME 病例。此外，通过回顾 DHDDS 突变的文献，我们将我们患者的表型与以前报道的表型进行了比较。我们确定 DHDDS（c.638G>A，p.Ser213Asn）为可能的致病变异。文献回顾显示，来自 13 个无关家庭的 15 名 PME 患者存在 DHDDS 突变。根据以往的研究，晚发性患者往往疾病进展缓慢。尽管我们患者的肌阵挛和共济失调是成年后发病，但他的病情迅速恶化。
