Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
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.
Hagerman
R J
RJ
M.I.N.D. Institute and the University of California at Davis Medical Center, Sacramento 95817, USA. randi.hagerman@ucdmc.udavis.edu
Leehey
M
M
Heinrichs
W
W
Tassone
F
F
Wilson
R
R
Hills
J
J
Grigsby
J
J
Gage
B
B
Hagerman
P J
PJ
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*
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human