Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):26-9. doi: 10.3109/17482968.2012.725415. Epub 2012 Sep 17.
An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we examined if the hexanucleotide repeat expansion was present in parkinsonism patients, to clarify if there could be a relationship between the repeat expansion and disease. We studied the size of the hexanucleotide repeat expansion in a well defined population-based cohort of 135 Parkinson's disease patients and 39 patients with atypical parkinsonism and compared with 645 Swedish control subjects. We found no correlation between Parkinson's disease or atypical parkinsonism and the size of the GGGGCC repeat expansion in C9ORF72. In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.
C9ORF72 基因中的 GGGGCC-六核苷酸重复扩展最近被确定为肌萎缩侧索硬化症和额颞叶痴呆的主要原因。一些肌萎缩侧索硬化症患者有帕金森病的迹象，许多帕金森病患者发展为痴呆。在这项研究中，我们研究了六核苷酸重复扩展是否存在于帕金森病患者中，以阐明重复扩展与疾病之间是否存在关系。我们研究了在一个明确的基于人群的 135 例帕金森病患者和 39 例非典型帕金森病患者队列中六核苷酸重复扩展的大小，并与 645 名瑞典对照进行了比较。我们没有发现帕金森病或非典型帕金森病与 C9ORF72 中 GGGGCC 重复扩展的大小之间存在相关性。总之，在瑞典人群中，C9ORF72 中的这种 GGGGCC-重复扩展不是帕金森病的原因。
