Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.
Mov Disord. 2009 Aug 15;24(11):1684-8. doi: 10.1002/mds.22507.
Paroxysmal exercise-induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35-p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de-novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial.
阵发性运动诱发性运动障碍（PED）是由长时间体力活动引发的无意识间歇性运动。可能会发生常染色体显性遗传。最近，葡萄糖转运蛋白 1（GLUT1）基因（chr.1p35-p31.3）的突变已被确定为一些常染色体显性 PED 患者的病因。该基因的突变以前与 GLUT1 缺乏综合征有关。我们对 10 名疑似散发性 PED 患者进行了突变分析。我们在两名患者中发现了两个新的 GLUT1 突变，至少一个可能是新生的。发病始于儿童早期。我们的一名患者有儿童失神癫痫的前期病史和当前的偏瘫性偏头痛病史以及偏头痛家族史。另一名患者除了 PED 外没有其他症状。脑 MRI 显示一例小脑萎缩。GLUT1 突变是散发性 PED 的一个原因。检测到这一点对治疗有重要意义，因为已经报道生酮饮食是有益的。
