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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome

Katherine E Manning1, Anthony J Holland2,3,4

  • 1Department of Psychiatry, University of Cambridge, Cambridge, CB2 8AH, UK. kem60@medschl.cam.ac.uk.

Diseases (Basel, Switzerland)
|September 26, 2017
PubMed

Insights

Prader-Willi syndrome (PWS) involves brain abnormalities affecting reward and cognitive networks. Further research is needed to understand the neural basis of PWS and its associated behavioral challenges.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder characterized by genomic imprinting.
  • Key features include hyperphagia, intellectual disability, behavioral issues, and psychiatric conditions.
  • Existing research primarily focuses on cognitive and behavioral aspects, with less understanding of neural physiology.

Purpose of the Study:

  • To systematically review existing literature on neural structure and function in PWS.
  • To identify research gaps and consolidate findings on the neurobiology of PWS.
  • To explore the involvement of various brain structures and networks in the disorder.

Main Methods:

  • Conducted a systematic literature review of in vivo and post-mortem studies on PWS neural structure and function.
  • Utilized comprehensive search terms to capture all relevant published articles.
  • Analyzed findings related to both anatomical and functional brain abnormalities.

Main Results:

  • Confirmed a general paucity of research, with many studies being case reports or focusing narrowly on eating behaviors.
  • Identified systematic investigations implicating both subcortical and higher-order brain structures in PWS.
  • Evidence suggests abnormalities in neural networks involved in reward processing, motivation, affect, and cognition.

Conclusions:

  • Prader-Willi syndrome appears to involve aberrant activity across distributed neural networks.
  • Both anatomical and functional brain abnormalities are indicated in PWS.
  • Further systematic research and replication are warranted to fully characterize the neural basis of PWS.

Keywords:
Prader-Willi syndromebrainneuroimagingpost-mortemsystematic review

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