Premutation female carriers of fragile X syndrome: a pilot study on brain anatomy and metabolism.

@article{Murphy1999PremutationFC,
  title={Premutation female carriers of fragile X syndrome: a pilot study on brain anatomy and metabolism.},
  author={Declan G. M. Murphy and Marc J Mentis and Pietro Pietrini and Cheryl L. Grady and Caroline J. Moore and Barry Horwitz and Veronica Hinton and Carl Dobkin and Mark B. Schapiro and Stanley I. Rapoport},
  journal={Journal of the American Academy of Child and Adolescent Psychiatry},
  year={1999},
  volume={38 10},
  pages={1294-301}
}
OBJECTIVE It was thought that premutation carriers of fragile X syndrome (FraX) have no neurobiological abnormalities, but there have been no quantitative studies of brain morphometry and metabolism. Thus the authors investigated brain structure and metabolism in premutation carriers of FraX. METHOD Eight normal IQ, healthy female permutation FraX carriers aged 39 +/- 9 years (mean +/- SD) and 32 age-sex-handedness-matched controls (39 +/- 10 years) were studied; in vivo brain morphometry was… CONTINUE READING

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The findings may be of relevance to people counseling families with FraX and to understanding other neuropsychiatric disorders which are associated with expansion of triplet repeats and genetic anticipation .
The findings may be of relevance to people counseling families with FraX and to understanding other neuropsychiatric disorders which are associated with expansion of triplet repeats and genetic anticipation .
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