Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

被引:705
作者
Hagerman, RJ
Leehey, M
Heinrichs, W
Tassone, F
Wilson, R
Hills, J
Grigsby, J
Gage, B
Hagerman, PJ
机构
[1] Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA
[2] Univ Colorado, Hlth Sci Ctr, Dept Neurol, Denver, CO 80262 USA
[3] Univ Colorado, Hlth Sci Ctr, Dept Med, Denver, CO 80262 USA
[4] Childrens Hosp, Fragile X Treatment & Res Ctr, Denver, CO 80218 USA
[5] Univ Calif Davis, Sch Med, Dept Biol Chem, Stockton, CA USA
[6] Kaiser Permanente, Stockton, CA USA
关键词
D O I
10.1212/WNL.57.1.127
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:127 / 130
页数:4
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