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Neurology. 2001 Jul 10;57(1):127-30.

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

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M.I.N.D. Institute and the University of California at Davis Medical Center, Sacramento 95817, USA.


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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