Section of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan, Taiwan.
Neurobiol Aging. 2013 Apr;34(4):1311.e3-4. doi: 10.1016/j.neurobiolaging.2012.09.002. Epub 2012 Oct 11.
Parkinsonism might precede, coincide, or follow the behavioral or language-predominant cognitive impairments characteristic of frontotemporal dementia (FTD). In this study, we analyze the hexanucleotide repeat expansions within C9orf72 gene in various parkinsonian syndromes because it is a recently identified important genetic cause of FTD. The expanded hexanucleotide repeat is only identified in our familial FTD patients but not in patients with predominant parkinsonism. The lack of association between abnormal C9orf72 repeat expansion and parkinsonian syndromes might imply pathogenic mechanisms other than tau or Lewy body pathology.
帕金森病可能先于、同时或后于额颞叶痴呆（FTD）的行为或语言为主的认知障碍出现。在这项研究中，我们分析了 C9orf72 基因内六核苷酸重复扩展在各种帕金森综合征中的作用，因为它是最近发现的 FTD 的一个重要遗传原因。扩展的六核苷酸重复仅在我们的家族性 FTD 患者中被识别，而不在以帕金森病为主的患者中被识别。异常 C9orf72 重复扩展与帕金森综合征之间缺乏关联可能意味着除了 tau 或路易体病理之外的致病机制。
