Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome

Stefano Marenco, Michael A. Siuta, J. Shane Kippenhan, Samuel Grodofsky, Wei Li Chang, Philip Kohn, Carolyn B. Mervis, Colleen A. Morris, Daniel R. Weinberger, Andreas Meyer-Lindenberg, Carlo Pierpaoli, Karen Faith Berman

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


Little is known about genetic regulation of the development of white matter. This knowledge is critical in understanding the pathophysiology of neurodevelopmental syndromes associated with altered cognition as well as in elucidating the genetics of normal human cognition. The hemideletion of ≈25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and therefore offers the opportunity to investigate the role of these genes in the formation of white matter tracts. We used diffusion tensor imaging to demonstrate alteration in white matter fiber directionality, deviation in posterior fiber tract course, and reduced lateralization of fiber coherence in WS. These abnormalities are consistent with an alteration of the late stages of neuronal migration, define alterations of white matter structures underlying dissociable behavioral phenotypes in WS, and provide human in vivo information about genetic control of white matter tract formation.

Original languageEnglish (US)
Pages (from-to)15117-15122
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number38
StatePublished - Sep 18 2007
Externally publishedYes


  • Development
  • LIMK1
  • Neuronal growth cone
  • Neuronal migration
  • Tractography

ASJC Scopus subject areas

  • General


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