Hagerman R J, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman P J
M.I.N.D. Institute and the University of California at Davis Medical Center, Sacramento 95817, USA.
Neurology. 2001 Jul 10;57(1):127-30. doi: 10.1212/wnl.57.1.127.
The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.
作者报告了5名患有脆性X前突变的老年男性，他们患有与执行功能缺陷和广泛性脑萎缩相关的进行性动作性震颤。这些个体的脆性X智力低下1基因（FMR1）信使核糖核酸水平升高，而FMR1蛋白水平正常或处于临界水平。作者提出，FMR1信使核糖核酸水平升高可能是导致一部分患有FMR1前突变的老年男性发生神经退行性综合征的原因。
