IRCCS Mondino Foundation, Pavia, Italy.
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Lancet Neurol. 2024 Jul;23(7):725-739. doi: 10.1016/S1474-4422(24)00167-4.
Nucleotide repeat expansions in the human genome are a well-known cause of neurological disease. In the past decade, advances in DNA sequencing technologies have led to a better understanding of the role of non-coding DNA, that is, the DNA that is not transcribed into proteins. These techniques have also enabled the identification of pathogenic non-coding repeat expansions that cause neurological disorders. Mounting evidence shows that adult patients with familial or sporadic presentations of epilepsy, cognitive dysfunction, myopathy, neuropathy, ataxia, or movement disorders can be carriers of non-coding repeat expansions. The description of the clinical, epidemiological, and molecular features of these recently identified non-coding repeat expansion disorders should guide clinicians in the diagnosis and management of these patients, and help in the genetic counselling for patients and their families.
核苷酸重复扩展是人类基因组中已知的神经疾病的一个重要原因。在过去的十年中，DNA 测序技术的进步使人们更好地了解了非编码 DNA 的作用，即不转录为蛋白质的 DNA。这些技术还使人们能够识别出导致神经紊乱的致病非编码重复扩展。越来越多的证据表明，具有家族性或散发性癫痫、认知功能障碍、肌病、神经病、共济失调或运动障碍的成年患者可能是这些非编码重复扩展的携带者。这些新确定的非编码重复扩展疾病的临床、流行病学和分子特征的描述应指导临床医生对这些患者进行诊断和管理，并帮助患者及其家属进行遗传咨询。
