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lüll The fragile-X premutation: a maturing perspective Hagerman PJ; Hagerman RJAm J Hum Genet 2004[May]; 74 (5): 805-16Carriers 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.|*Chromosomes, Human, X[MESH]|*DNA Repeat Expansion[MESH]|*RNA-Binding Proteins[MESH]|Fragile X Mental Retardation Protein[MESH]|Fragile X Syndrome/*genetics[MESH]|Humans[MESH]|Mental Disorders/*genetics[MESH]|Nerve Tissue Proteins/genetics[MESH] |