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Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
Neurology 2001 July 11
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.
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