Brain Structure and Function

, Volume 223, Issue 4, pp 1897–1907 | Cite as

A postmortem stereological study of the amygdala in Williams syndrome

  • Caroline H. Lew
  • Kimberly M. Groeniger
  • Ursula Bellugi
  • Lisa Stefanacci
  • Cynthia M. Schumann
  • Katerina SemendeferiEmail author
Original Article


Perturbations to the amygdala have been observed in neurological disorders characterized by abnormalities in social behavior, such as autism and schizophrenia. Here, we quantitatively examined the amygdala in the postmortem human brains of male and female individuals diagnosed with Williams Syndrome (WS), a neurodevelopmental disorder caused by a well-defined deletion of ~ 26 genes, and accompanied by a consistent behavioral profile that includes profound hypersociability. Using unbiased stereological sampling, we estimated nucleus volume, number of neurons, neuron density, and neuron soma area in four major amygdaloid nuclei- the lateral nucleus, basal nucleus, accessory basal nucleus, and central nucleus- in a sample of five adult and two infant WS brains and seven age-, sex- and hemisphere-matched typically developing control (TD) brains. Boundaries of the four nuclei examined were drawn on Nissl-stained coronal sections as four separate regions of interest for data collection. We found that the lateral nucleus contains significantly more neurons in WS compared to TD. WS and TD do not demonstrate significant differences in neuron number in the basal, accessory basal, or central nuclei, and there are no significant differences between WS and TD in nuclei volume, neuron density, and neuron soma area in any of the four nuclei. A similarly designed study reported a decrease in lateral nucleus neuron number in autism, mirroring the opposing extremes of the two disorders in the social domain. These results suggest that the number of neurons in the lateral nucleus may contribute to pathological disturbances in amygdala function and sociobehavioral phenotype.


Williams syndrome Neuropathology Neuroanatomy Neuron number Amygdala 



This research was supported by the National Institutes of Health P01 NICHD033113, 5R03MH103697 and R56MH109587. We wish to thank the tissue donors and their families whose gift to science made this study possible, and especially Terry Monkaba and the Williams Syndrome Association. WS human tissue was obtained under the Ursula Bellugi WS Brain Collection, curated by KS at UC San Diego. Typically, developing human tissue was obtained from the University of Maryland Brain and Tissue Bank, which is a Brain and Tissue Repository of NIH NeuroBioBank. We thank Chelsea Brown, Valerie Judd, Hailee Orfant and Deion Cuevas for tissue processing assistance, and Kari Hanson, Branka Hrvoj, and Linnea Wilder for feedback.

Compliance with ethical standards

Ethical statement

The authors declare they have no conflict of interest. This article does not contain any studies with human participants or authors performed by any of the authors. For this type of study formal consent is not required.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Caroline H. Lew
    • 1
  • Kimberly M. Groeniger
    • 1
  • Ursula Bellugi
    • 2
  • Lisa Stefanacci
    • 1
  • Cynthia M. Schumann
    • 3
  • Katerina Semendeferi
    • 1
    • 4
    Email author
  1. 1.Department of Anthropology, Social Sciences Building Rm. 210University of California, San DiegoLa JollaUSA
  2. 2.Laboratory for Cognitive NeuroscienceSalk Institute for Biological StudiesLa JollaUSA
  3. 3.Department of Psychiatry and Behavioral Sciences, MIND InstituteUniversity of California, DavisSacramentoUSA
  4. 4.Kavli Institute for Brain and MindUniversity of CaliforniaLa JollaUSA

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