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Am J Hum Genet. 2004 May;74(5):805-16. Epub 2004 Mar 29.

The fragile-X premutation: a maturing perspective.

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  • 1Department of Biochemistry and Molecular Medicine, University of California-Davis, Davis, CA 95616, USA.

Erratum in

  • Am J Hum Genet. 2004 Aug;75(2):352.


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.

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