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37 - Neuroimaging of Williams–Beuren syndrome

from Section VII - Developmental Disorders

Published online by Cambridge University Press:  10 January 2011

By
Andreia Santos  and
Andreas Meyer-Lindenberg
Edited by
Martha E. Shenton  and
Bruce I. Turetsky
Andreia Santos
Affiliation:
Central Institute of Mental Health Mannheim, Germany
Andreas Meyer-Lindenberg
Affiliation:
Department of Psychiatry and Psychotherapy University of Heidelberg and Central Institute of Mental Health Mannheim, Germany
Martha E. Shenton
Affiliation:
VA Boston Healthcare System and Brigham and Women's Hospital, Harvard Medical School
Bruce I. Turetsky
Affiliation:
University of Pennsylvania
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Summary

Introduction

In the last decades, studying genetic neuropsychiatric syndromes at multiple levels has proven to be a powerful means for elucidating the pathways of both typical and atypical neurodevelopment. Within this context, Williams–Beuren syndrome, or Williams syndrome (WS) for short, has been established as model syndrome of special interest to investigate gene–brain–behavior relationships and a “unique window to genetic contributions to neural function” (Meyer-Lindenberg et al.,2006, p. 391).

WS is a relatively rare neurodevelopmental disorder characterized by a combination of distinctive clinical, cognitive, behavioral, genetic and neuroanatomical features. It was first described in the early 1960s by two groups of cardiologists as a condition involving a constellation of cardiovascular abnormalities, hypercalcemia, peculiar facial “elfin-like” features, and mild to moderate mental retardation (Beuren et al., 1962; Williams et al., 1961).

Insights into the nature of WS culminated in the mid 1990s with the identification of the genetic cause, a so-called microdeletion (see below, Genetic profile). Since then, several neuroimaging studies, using a wide range of new imaging techniques, have attempted to uncover the structural and functional neural substrates of WS, providing an emerging understanding of brain mechanisms mediating between genetic variation and cognitive-behavioral phenotypes in humans.

The aim of this chapter is to review imaging studies delineating the unique neuropsychiatric features of WS, as well as recent advances in investigating the neural substrates of the disorder, which have provided significant contributions to unraveling the impact of a specific genetic defect on brain structure and function.

Keywords

behavioral profilecognitive profileMRIWilliams-Beuren syndromesingle-gene effectsvoxel-based morphometry
Type
Chapter
Information
Understanding Neuropsychiatric Disorders
Insights from Neuroimaging
 , pp. 537 - 554
Publisher: Cambridge University Press
Print publication year: 2010

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