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

被引:701
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
相关论文
共 12 条
  • [1] Allingham-Hawkins SJ, 1999, AM J MED GENET, V83, P322, DOI 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO
  • [2] 2-B
  • [3] Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
    Franke, P
    Leboyer, M
    Gänsicke, M
    Weiffenbach, O
    Biancalana, V
    Cornillet-Lefebre, P
    Croquette, MF
    Froster, U
    Schwab, SG
    Poustka, F
    Hautzinger, M
    Maier, W
    [J]. PSYCHIATRY RESEARCH, 1998, 80 (02) : 113 - 127
  • [4] Hagerman R. J., 1999, NEURODEVELOPMENTAL D, P61
  • [5] Hagerman RJ, 1996, PEDIATRICS, V97, P122
  • [6] HILLS JL, 2000, 7 INT FRAG X FDN C J
  • [7] Riddle JE, 1998, AM J MENT RETARD, V102, P590
  • [8] ROUSSEAU F, 1995, AM J HUM GENET, V57, P1006
  • [9] Tassone F, 2000, AM J MED GENET, V91, P144, DOI 10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO
  • [10] 2-V