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
Summary
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.
Related Concept Videos
Neural Regulation
43.6K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
43.6K
Pleiotropy
43.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.6K
Role of Cerebellum and Prefrontal Cortex in Memory
1.3K
The cerebellum, while traditionally associated with motor control, also plays a crucial role in memory, particularly in procedural memory, which involves learning motor tasks that become automatic through repetition. For example, studies have shown that when the cerebellum is damaged, individuals or animals lose the ability to learn conditioned motor responses, such as the conditioned eye-blink response in classical conditioning experiments with rabbits. This study demonstrates the...
1.3K
Genomic Imprinting and Inheritance
37.5K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.5K
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
2.2K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
2.2K
Parkinson's Disease: Overview
2.2K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
2.2K


