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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
R J Hagerman
1 ,
M Leehey ,
W Heinrichs ,
F Tassone ,
R Wilson ,
J Hills ,
J Grigsby ,
B Gage ,
P J Hagerman
Jul 10 2001
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Abstract
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.