Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Top Cited Papers
- 10 July 2001
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 57 (1), 127-130
- https://doi.org/10.1212/wnl.57.1.127
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.Keywords
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