Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil; Neurodegenerative Diseases Group, Postgraduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Parkinsonism Relat Disord. 2022 Apr;97:101-104. doi: 10.1016/j.parkreldis.2022.04.004. Epub 2022 Apr 12.
More frequent use of next-generation sequencing led to a paradigm shift in assessing heredodegenerative diseases. This is particularly notable in progressive myoclonus epilepsy (PME) and progressive myoclonus ataxia (PMA) where a group of disorders linked to novel genetic mutations has now been added to these phenotypical realms. Despite the historical value of Ramsay Hunt's contribution defining the syndrome later known as PMA, recent genetic developments have made this eponym obsolete and a new definition and classification of PMA and PME seem necessary. A rational possibility is to adopt the wider term progressive myoclonus ataxia and epilepsy syndrome (PMAES), which can be subdivided into its main subtypes, PME and PMA, whenever clinical data is sufficient to make that distinction.
下一代测序的更频繁使用导致了遗传性退行性疾病评估的范式转变。在进行性肌阵挛癫痫(PME)和进行性肌阵挛共济失调(PMA)中尤其如此,现在已经在这些表型领域中添加了一组与新型基因突变相关的疾病。尽管 Ramsay Hunt 对后来被称为 PMA 的综合征的定义具有历史价值,但最近的遗传发展使这个专有名词变得过时,并且似乎需要对 PMA 和 PME 的新定义和分类。一个合理的可能性是采用更广泛的术语进行性肌阵挛性共济失调和癫痫综合征(PMAES),只要临床数据足以做出这种区分,就可以将其细分为主要亚型 PME 和 PMA。