scholarly journals Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

eLife ◽  
2016 ◽  
Vol 5 ◽  
Author(s):  
Xiangling Meng ◽  
Wei Wang ◽  
Hui Lu ◽  
Ling-jie He ◽  
Wu Chen ◽  
...  
Keyword(s):  
Mouse Models ◽  
Neurological Disorders ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Autism Spectrum ◽  
Inhibitory Neurons ◽  
Loss Of Function ◽  
Glutamatergic Neurons ◽  
Excitatory Neurotransmission ◽  
Spectrum Disorders

Many postnatal onset neurological disorders such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely from disruption of excitatory/inhibitory homeostasis. Although mouse models of Rett syndrome (RTT), a postnatal neurological disorder caused by loss-of-function mutations in MECP2, display impaired excitatory neurotransmission, the RTT phenotype can be largely reproduced in mice simply by removing MeCP2 from inhibitory GABAergic neurons. To determine what role excitatory signaling impairment might play in RTT pathogenesis, we generated conditional mouse models with Mecp2 either removed from or expressed solely in glutamatergic neurons. MeCP2 deficiency in glutamatergic neurons leads to early lethality, obesity, tremor, altered anxiety-like behaviors, and impaired acoustic startle response, which is distinct from the phenotype of mice lacking MeCP2 only in inhibitory neurons. These findings reveal a role for excitatory signaling impairment in specific neurobehavioral abnormalities shared by RTT and other postnatal neurological disorders.

P3-7. Neurophysiological profile of acoustic startle response in Japanese children with autism spectrum disorders

2013 ◽  
Vol 124 (8) ◽  
pp. e37-e38
Author(s):  
Hidetoshi Takahashi ◽  
Takayuki Nakahachi ◽  
Aiko Moriwaki ◽  
Reiko Takei ◽  
Yukako Iida ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Startle Response ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Japanese Children ◽  
Spectrum Disorders

scholarly journals Relationship between physiological and parent-observed auditory over-responsiveness in children with typical development and those with autism spectrum disorders

Autism ◽  
2016 ◽  
Vol 22 (3) ◽  
pp. 291-298 ◽  
Author(s):  
Hidetoshi Takahashi ◽  
Takayuki Nakahachi ◽  
Andrew Stickley ◽  
Makoto Ishitobi ◽  
Yoko Kamio
Keyword(s):  
Autism Spectrum Disorders ◽  
Sensory Processing ◽  
Startle Response ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Autism Spectrum ◽  
Sensory Profile ◽  
Typical Development ◽  
Response Measures ◽  
Spectrum Disorders

The objective of this study was to investigate relationships between caregiver-reported sensory processing abnormalities, and the physiological index of auditory over-responsiveness evaluated using acoustic startle response measures, in children with autism spectrum disorders and typical development. Mean acoustic startle response magnitudes in response to 65–105 dB stimuli, in increments of 10 dB, were analyzed in children with autism spectrum disorders and with typical development. Average peak startle latency was also examined. We examined the relationship of these acoustic startle response measures to parent-reported behavioral sensory processing patterns in everyday situations, assessed using the Sensory Profile for all participants. Low-threshold scores on the Sensory Profile auditory section were related to acoustic startle response magnitudes at 75 and 85 dB, but not to the lower intensities of 65 dB. The peak startle latency and acoustic startle response magnitudes at low-stimuli intensities of 65 and 75 dB were significantly related to the low-threshold quadrants (sensory sensitivity and sensation avoiding) scores and to the high-threshold quadrant of sensation seeking. Our results suggest that physiological assessment provides further information regarding auditory over-responsiveness to less-intense stimuli and its relationship to caregiver-observed sensory processing abnormalities in everyday situations.

Research on Emotion Recognition and Dementias: Foundations and Prospects

2021 ◽  
pp. 1-12
Author(s):  
Gregorio González-Alcaide ◽  
Mercedes Fernández-Ríos ◽  
Rosa Redolat ◽  
Emilia Serra
Keyword(s):  
Emotion Recognition ◽  
Neurological Disorders ◽  
Web Of Science ◽  
Research Area ◽  
Scientific Output ◽  
Autism Spectrum ◽  
Intellectual Structure ◽  
Clinical Neurology ◽  
Spectrum Disorders ◽  
Cognitive Areas

Background: The study of emotion recognition could be crucial for detecting alterations in certain cognitive areas or as an early sign of neurological disorders. Objective: The main objective of the study is to characterize research development on emotion recognition, identifying the intellectual structure that supports this area of knowledge, and the main lines of research attracting investigators’ interest. Methods: We identified publications on emotion recognition and dementia included in the Web of Science Core Collection, analyzing the scientific output and main disciplines involved in generating knowledge in the area. A co-citation analysis and an analysis of the bibliographic coupling between the retrieved documents elucidated the thematic orientations of the research and the reference works that constitute the foundation for development in the field. Results: A total of 345 documents, with 24,282 bibliographic references between them, were included. This is an emerging research area, attracting the interest of investigators in Neurosciences, Psychology, Clinical Neurology, and Psychiatry, among other disciplines. Four prominent topic areas were identified, linked to frontotemporal dementia, autism spectrum disorders, Alzheimer’s disease, and Parkinson’s and Huntington disease. Many recent papers focus on the detection of mild cognitive impairment. Conclusion: Impaired emotion recognition may be a key sign facilitating the diagnosis and early treatment of different neurodegenerative diseases as well as for triggering the necessary provision of social and family support, explaining the growing research interest in this area.

scholarly journals Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice

2020 ◽  
Author(s):  
Nicole Martin-Kenny ◽  
Nathalie G. Bérubé
Keyword(s):  
Repeated Measures ◽  
Susceptibility Gene ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Autism Spectrum ◽  
Conditional Knockout ◽  
Male And Female ◽  
Female Mice ◽  
Excitatory Neurons ◽  
Behavioural Tests

AbstractBackgroundAlpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been identified in autism spectrum disorder (ASD) patients. The mechanisms by which ATRX mutations lead to autism and autistic-like behaviours are not yet known. To address this question, we generated mice with postnatal Atrx inactivation in excitatory neurons of the forebrain and performed a battery of behavioural assays that assess autistic-like behaviours.MethodsMale and female mice with a postnatal conditional knockout of Atrx were tested in a battery of behavioural tests that assess autistic features. We utilized paradigms that measure social behaviour, repetitive and stereotyped behaviours, as well as sensory gating. Statistics were calculated by two-way repeated measures ANOVA with Sidak’s multiple comparison test or unpaired Student’s T-tests as indicated.ResultsThe behaviour tests revealed no significant differences between Atrx-cKO and control mice. We identified sexually dimorphic changes in odor habituation and discrimination; however, these changes did not correlate with social deficits. We additionally observed sex-specific differences in sociability, vertical episodes, and acoustic startle response when results were analyzed by sex.ConclusionThe postnatal knockout of Atrx in forebrain excitatory neurons does not lead to autism-related behaviours in male or female mice.

scholarly journals Sex-Specific Social Behavior and Amygdala Proteomic Deficits in Foxp2+/− Mutant Mice

2021 ◽  
Vol 15 ◽  
Author(s):  
Maria Jesus Herrero ◽  
Li Wang ◽  
David Hernandez-Pineda ◽  
Payal Banerjee ◽  
Heidi Y. Matos ◽  
...  
Keyword(s):  
Social Behavior ◽  
Social Interactions ◽  
Social Behaviors ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Neuronal Communication ◽  
Males And Females ◽  
Spectrum Disorders ◽  
Encoding Gene ◽  
Dopamine Signaling

In humans, mutations in the transcription factor encoding gene, FOXP2, are associated with language and Autism Spectrum Disorders (ASD), the latter characterized by deficits in social interactions. However, little is known regarding the function of Foxp2 in male or female social behavior. Our previous studies in mice revealed high expression of Foxp2 within the medial subnucleus of the amygdala (MeA), a limbic brain region highly implicated in innate social behaviors such as mating, aggression, and parental care. Here, using a comprehensive panel of behavioral tests in male and female Foxp2+/– heterozygous mice, we investigated the role Foxp2 plays in MeA-linked innate social behaviors. We reveal significant deficits in olfactory processing, social interaction, mating, aggressive, and parental behaviors. Interestingly, some of these deficits are displayed in a sex-specific manner. To examine the consequences of Foxp2 loss of function specifically in the MeA, we conducted a proteomic analysis of microdissected MeA tissue. This analyses revealed putative sex differences expression of a host of proteins implicated in neuronal communication, connectivity, and dopamine signaling. Consistent with this, we discovered that MeA Foxp2-lineage cells were responsive to dopamine with differences between males and females. Thus, our findings reveal a central and sex-specific role for Foxp2 in social behavior and MeA function.

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