额颞叶退行性变中视神经萎缩症相关蛋白的分析。
Analysis of optineurin in frontotemporal lobar degeneration.
机构信息
Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK.
出版信息
Neurobiol Aging. 2012 Feb;33(2):425.e1-2. doi: 10.1016/j.neurobiolaging.2010.10.002. Epub 2010 Nov 12.
Abstract
Frontotemporal lobar degeneration (FTLD) can occur jointly with amyotrophic lateral sclerosis (ALS), and these 2 conditions share a genetic risk factor on chromosome 9. It has been reported that mutations in optineurin (OPTN) can cause ALS. Therefore, we sequenced OPTN in 371 FTLD cases but no mutations were detected, suggesting changes in OPTN do not cause FTLD.
摘要
额颞叶变性（FTLD）可与肌萎缩侧索硬化症（ALS）同时发生，这两种疾病在 9 号染色体上有共同的遗传风险因素。据报道，视神经病变（OPTN）的突变可导致 ALS。因此，我们对 371 例 FTLD 病例进行了 OPTN 测序，但未发现突变，提示 OPTN 的改变不会导致 FTLD。
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