The fragile-X premutation: a maturing perspective.
Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neurodegenerative disorder of older adult carriers, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics.
Hagerman
Paul J
PJ
Department of Biochemistry and Molecular Medicine, University of California-Davis, Davis, CA 95616, USA. pjhagerman@ucdavis.edu
Hagerman
Randi J
RJ
D041321:Chromosomes, Human, X; D042622:DNA Repeat Expansion; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human