Behavior and neuropsychiatric manifestations in Angelman syndrome

Pelc, Karine; Chéron, Guy; Dan, Bernard

doi:10.2147/ndt.s2749

Cited by 41 publications

(11 citation statements)

References 82 publications

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“…This effect may also be observed in otherwise healthy individuals [51] . Although this has not been specifically tested in Angelman syndrome patients, SSRIs have been shown to decrease anxiety, impulsivity and hyperactivity in this population [52] . Changes in 5HT synthesis capacity have also been observed in ASD individuals, particularly in children, where 5HT synthesis was found to be disrupted in children with autism [53] .…”

Section: Discussionmentioning

confidence: 99%

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models

et al. 2012

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Childhood neurodevelopmental disorders like Angelman syndrome and autism may be the result of underlying defects in neuronal plasticity and ongoing problems with synaptic signaling. Some of these defects may be due to abnormal monoamine levels in different regions of the brain. Ube3a, a gene that causes Angelman syndrome (AS) when maternally deleted and is associated with autism when maternally duplicated has recently been shown to regulate monoamine synthesis in the Drosophila brain. Therefore, we examined monoamine levels in striatum, ventral midbrain, frontal cerebral cortex, cerebellar cortex and hippocampus in Ube3a deficient and Ube3a duplication animals. We found that serotonin (5HT), a monoamine affected in autism, was elevated in the striatum and cortex of AS mice. Dopamine levels were almost uniformly elevated compared to control littermates in the striatum, midbrain and frontal cortex regardless of genotype in Ube3a deficient and Ube3a duplication animals. In the duplication 15q autism mouse model, paternal but not maternal duplication animals showed a decrease in 5HT levels when compared to their wild type littermates, in accordance with previously published data. However, maternal duplication animals show no significant changes in 5HT levels throughout the brain. These abnormal monoamine levels could be responsible for many of the behavioral abnormalities observed in both AS and autism, but further investigation is required to determine if any of these changes are purely dependent on Ube3a levels in the brain.

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Section: Discussionmentioning

confidence: 99%

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models

et al. 2012

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“…AS is characterized by intellectual disability, epilepsy, impaired coordination, and absence of speech [ 692 ]. However, individuals with AS also commonly exhibit a characteristic happy demeanor with prominent smiling, non-specific laughing, a general exuberance [ 693 ], and an attraction to water and certain types of paper and plastics [ 694 ], suggesting that the reward-system function may be a candidate system for study in this syndrome [ 695 ]. The syndrome is caused by mutations or deletions of the maternal copy of the gene Ube3a , an E3 ubquitin ligase enzyme that is involved in targeting proteins for degradation in cells.…”

Section: Reviewmentioning

confidence: 99%

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Dichter

Damiano

Allen

2012

J Neurodevelop Disord

253

207

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This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

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“…Angelman syndrome is a severe neurodevelopmental disorder caused by a mutation in the maternal UBE3A allele (130,131). The UBE3A gene is primarily expressed in the central nervous system (132) and commonly induces sensorimotor impairments in patients, including malsensitivity to pain stimuli (133,134). Mice with dilution of UBE3A maternally exhibit enhanced pain responses accompanied by abnormalities in the DRG neuronal formation (135).…”

Section: Ube3amentioning

confidence: 99%

From Multisensory Assessment to Functional Interpretation of Social Behavioral Phenotype in Transgenic Mouse Models for Autism Spectrum Disorders

Arakawa

2020

Front. Psychiatry

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Autism spectrum disorder (ASD) is a common heterogeneous disorder, defined solely by the core behavioral characteristics, including impaired social interaction and restricted and repeated behavior. Although an increasing number of studies have been performed extensively, the neurobiological mechanisms underlying the core symptoms of ASD remain largely unknown. Transgenic mouse models provide a useful tool for evaluating genetic and neuronal mechanisms underlying ASD pathology, which are prerequisites for validating behavioral phenotypes that mimic the core symptoms of human ASD. The purpose of this review is to propose a better strategy for analyzing and interpreting social investigatory behaviors in transgenic mouse models of ASD. Mice are nocturnal, and employ multimodal processing mechanisms for social communicative behaviors, including those that involve olfactory and tactile senses. Most behavioral paradigms that have been developed for measuring a particular ASD-like behavior in mouse models, such as social recognition, preference, and discrimination tests, are based on the evaluation of distance-based investigatory behavior in response to social stimuli. This investigatory behavior in mice is regulated by multimodal processing involving with two different motives: first, an olfactory-based novelty assessment, and second, tactile-based social contact, in a temporally sequential manner. Accurate interpretation of investigatory behavior exhibited by test mice can be achieved by functional analysis of these multimodal, sequential behaviors, which will lead to a better understanding of the specific features of social deficits associated with ASD in transgenic mouse models, at high temporal and spatial resolutions.

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Behavior and neuropsychiatric manifestations in Angelman syndrome

Cited by 41 publications

References 82 publications

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

From Multisensory Assessment to Functional Interpretation of Social Behavioral Phenotype in Transgenic Mouse Models for Autism Spectrum Disorders

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