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Increased gyrification in Williams syndrome: evidence using 3D MRI methods

  • J Eric Schmitt (a1), Katie Watts (a1), Stephan Eliez (a1), Ursula Bellugi (a2), Albert M Galaburda (a3) and Allan L Reiss (a1)...

Abstract

Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual–spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age- and sex-matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal (p=0.0227), right occipital (p=0.0249), and left frontal (p=0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition.

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Corresponding author

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, CA 94305-5719, USA. E-mail: areiss1@leland.stanford.edu

Increased gyrification in Williams syndrome: evidence using 3D MRI methods

  • J Eric Schmitt (a1), Katie Watts (a1), Stephan Eliez (a1), Ursula Bellugi (a2), Albert M Galaburda (a3) and Allan L Reiss (a1)...

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