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The Journal of Neuroscience, August 24, 2005, 25(34):7840-7846; doi:10.1523/JNEUROSCI.1722-05.2005

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Development/Plasticity/Repair
Genetic Contributions to Human Gyrification: Sulcal Morphometry in Williams Syndrome

J. Shane Kippenhan,¹ Rosanna K. Olsen,¹ Carolyn B. Mervis,² Colleen A. Morris,³ Philip Kohn,¹ Andreas Meyer-Lindenberg,^1 * and Karen Faith Berman^1 *

¹Section on Integrative Neuroimaging, Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, ²Neurodevelopmental Sciences Laboratory, Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky 40292, and ³Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada 89102

Although gyral and sulcal patterns are highly heritable, and emerge in a tightly controlled sequence during development, very little is known about specific genetic contributions to abnormal gyrification or the resulting functional consequences. Williams syndrome (WS), a genetic disorder caused by hemizygous microdeletion on chromosome 7q11.23 and characterized by abnormal brain structure and striking cognitive (impairment in visuospatial construction) and behavioral (hypersocial/anxious) phenotypes, offers a unique opportunity to study these issues. We performed a detailed analysis of sulcal depth based on geometric cortical surface representations constructed from high-resolution magnetic resonance imaging scans acquired from participants with WS and from healthy controls who were matched for age, sex, and intelligence quotient, and compared between-group differences with those obtained from a voxel-based morphometry analysis. We found bilateral reductions in sulcal depth in the intraparietal/occipitoparietal sulcus (PS) in the brains of participants with WS, as well as in the collateral sulcus and the orbitofrontal region in the left hemisphere. The left-hemisphere PS in the WS group averaged 8.5 mm shallower than in controls. Sulcal depth findings in the PS corresponded closely to measures of reduced gray matter volume in the same area, providing evidence that the gray matter volume loss and abnormal sulcal geometry may be related. In the context of previous functional neuroimaging findings demonstrating functional alterations in the same cortical regions, our results further define the neural endophenotype underlying visuoconstructive deficits in WS, set the stage for defining the effects of specific genes, and offer insight into genetic mechanisms of cortical gyrification.

Key words: Williams syndrome; brain imaging; sulcal depth; visuospatial construction; intraparietal sulcus; MRI; cortical surface models

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Received April 29, 2005; revised July 12, 2005; accepted July 14, 2005.

This article has been cited by other articles:

				R. K. Olsen, J. S. Kippenhan, S. Japee, P. Kohn, C. B. Mervis, Z. S. Saad, C. A. Morris, A. Meyer-Lindenberg, and K. F. Berman Retinotopically defined primary visual cortex in Williams syndrome Brain, March 2, 2009; (2009) awn362v1. [Abstract] [Full Text] [PDF]

				D. Sarpal, B. R. Buchsbaum, P. D. Kohn, J. S. Kippenhan, C. B. Mervis, C. A. Morris, A. Meyer-Lindenberg, and K. F. Berman A Genetic Model for Understanding Higher Order Visual Processing: Functional Interactions of the Ventral Visual Stream in Williams Syndrome Cereb Cortex, October 1, 2008; 18(10): 2402 - 2409. [Abstract] [Full Text] [PDF]

				K. Im, J.-M. Lee, O. Lyttelton, S. H. Kim, A. C. Evans, and S. I. Kim Brain Size and Cortical Structure in the Adult Human Brain Cereb Cortex, September 1, 2008; 18(9): 2181 - 2191. [Abstract] [Full Text] [PDF]

				H. Kim, N. Bernasconi, B. Bernhardt, O. Colliot, and A. Bernasconi Basal temporal sulcal morphology in healthy controls and patients with temporal lobe epilepsy Neurology, May 27, 2008; 70(22_Part_2): 2159 - 2165. [Abstract] [Full Text] [PDF]

				S. Marenco, M. A. Siuta, J. S. Kippenhan, S. Grodofsky, W.-l. Chang, P. Kohn, C. B. Mervis, C. A. Morris, D. R. Weinberger, A. Meyer-Lindenberg, et al. Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome PNAS, September 18, 2007; 104(38): 15117 - 15122. [Abstract] [Full Text] [PDF]

				M. Gimenez, C. Junque, P. Vendrell, A. Narberhaus, N. Bargallo, F. Botet, and J. M. Mercader Abnormal orbitofrontal development due to prematurity Neurology, November 28, 2006; 67(10): 1818 - 1822. [Abstract] [Full Text] [PDF]

				D. C. Van Essen, D. Dierker, A. Z. Snyder, M. E. Raichle, A. L. Reiss, and J. Korenberg Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses. J. Neurosci., May 17, 2006; 26(20): 5470 - 5483. [Abstract] [Full Text] [PDF]

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