The fragile-X premutation: a maturing perspective

Am J Hum Genet. 2004 May;74(5):805-16. doi: 10.1086/386296. Epub 2004 Mar 29.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Chromosomes, Human, X*
  • DNA Repeat Expansion*
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Humans
  • Mental Disorders / genetics*
  • Nerve Tissue Proteins / genetics
  • RNA-Binding Proteins*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein

Associated data

  • OMIM/309550