Anderson David G, Németh Andrea H, Fawcett Katherine A, Sims David, Miller Jack, Krause Amanda
Department of Neurology University of the Witwatersrand Donald Gordon Medical Centre Johannesburg South Africa.
Division of Human Genetics School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
Mov Disord Clin Pract. 2016 Jun 16;4(2):249-253. doi: 10.1002/mdc3.12372. eCollection 2017 Mar-Apr.
We report on a white Afrikaans family from eastern South Africa with three members affected with North Sea progressive myoclonus epilepsy, resulting from a homozygous founder mutation (c.430G>T, p.Gly144Trp). The mutation was identified by exomic sequencing in a research study investigating childhood onset ataxias. All three subjects presented with ataxia, tremor, early gait difficulties, and myoclonic and generalized tonic clonic (GTC) epilepsy. Each patient underwent deep brain stimulation of the caudal Zona Incerta before coming to the attention of the authors. In each case there was a reduction in GTC seizures, and two patients exhibited a reduction in involuntary movements, as evaluated during long-term follow-up. In one case there was an improvement in gait and stance when assessed while the stimulation was on.
我们报告了一个来自南非东部的白人南非语家庭，该家庭中有三名成员患有北海进行性肌阵挛癫痫，这是由一个纯合的始祖突变（c.430G>T，p.Gly144Trp）引起的。该突变是在一项调查儿童期共济失调的研究中通过外显子组测序鉴定出来的。所有三名受试者均表现出共济失调、震颤、早期步态困难以及肌阵挛和全身性强直阵挛（GTC）癫痫。在引起作者注意之前，每名患者都接受了尾侧未定带的深部脑刺激。在长期随访评估中，每例患者的GTC发作均减少，两名患者的不自主运动也有所减少。在其中一例中，在刺激开启时进行评估，步态和姿势有所改善。
