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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Atrophy
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Brain / pathology
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Brain Diseases / complications*
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Brain Diseases / diagnosis
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Fragile X Mental Retardation Protein
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Fragile X Syndrome / complications*
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Fragile X Syndrome / genetics
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Fragile X Syndrome / metabolism
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Heterozygote*
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Humans
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Motivation*
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / metabolism
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Parkinsonian Disorders / complications*
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RNA, Messenger / metabolism
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RNA-Binding Proteins*
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Tremor / complications*
Substances
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FMR1 protein, human
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Nerve Tissue Proteins
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RNA, Messenger
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RNA-Binding Proteins
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Fragile X Mental Retardation Protein