title: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
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.
authors.affiliation: M.I.N.D. Institute and the University of California at Davis Medical Center, Sacramento 95817, USA. randi.hagerman@ucdmc.udavis.edu
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
authors.forename: M
authors.initials: M
authors.lastname: Leehey
authors.forename: W
authors.initials: W
authors.lastname: Heinrichs
authors.forename: F
authors.initials: F
authors.lastname: Tassone
authors.forename: R
authors.initials: R
authors.lastname: Wilson
authors.forename: J
authors.initials: J
authors.lastname: Hills
authors.forename: J
authors.initials: J
authors.lastname: Grigsby
authors.forename: B
authors.initials: B
authors.lastname: Gage
authors.forename: P J
authors.initials: PJ
authors.lastname: Hagerman
mesh_terms: D000368:Aged; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009042:Motivation; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D020734:Parkinsonian Disorders / Q000150:complications*; D012333:RNA, Messenger / Q000378:metabolism; D016601:RNA-Binding Proteins; D014202:Tremor / Q000150:complications*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human