Behavior and neuropsychiatric manifestations in Angelman syndrome

Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specific behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specific laughing and general exuberance, associated with hypermotor behavior, stereotypies, and reduced behavioral adaptive skills despite proactive social contact. All these phenotypic characteristics are currently difficult to quantify and have been subject to some differences in interpretation. For example, prevalence of autistic disorder is still debated. Many of these features may occur in other syndromic or nonsyndromic forms of severe intellectual disability, but their combination, with particularly prominent laughter and smiling may be specific of Angelman syndrome. Management of problematic behaviors is primarily based on behavioral approaches, though psychoactive medication (eg, neuroleptics or antidepressants) may be required

The Lessons from Angelman Syndrome for Research and Management

info:eu-repo/semantics/publishe

Understanding Neural Oscillations in the Human Brain: From movement to consciousness and vice & versa

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Editorial: Insights in movement science and sport psychology 2021

SCOPUS: ed.jinfo:eu-repo/semantics/publishe

EMG subspace alignment and visualization for cross-subject hand gesture classification

Electromyograms (EMG)-based hand gesture recognition systems are a promising technology for human/machine interfaces. However, one of their main limitations is the long calibration time that is typically required to handle new users. The paper discusses and analyses the challenge of cross-subject generalization thanks to an original dataset containing the EMG signals of 14 human subjects during hand gestures. The experimental results show that, though an accurate generalization based on pooling multiple subjects is hardly achievable, it is possible to improve the cross-subject estimation by identifying a robust low-dimensional subspace for multiple subjects and aligning it to a target subject. A visualization of the subspace enables us to provide insights for the improvement of cross-subject generalization with EMG signals.Comment: 8 pages + 1 appendix page 6 figures (one in appendix) Published in the Adapting to Change: Reliable Learning Across Domains workshop from ECML-PKDD 202

BK Channels Control Cerebellar Purkinje and Golgi Cell Rhythmicity In Vivo

Calcium signaling plays a central role in normal CNS functioning and dysfunction. As cerebellar Purkinje cells express the major regulatory elements of calcium control and represent the sole integrative output of the cerebellar cortex, changes in neural activity- and calcium-mediated membrane properties of these cells are expected to provide important insights into both intrinsic and network physiology of the cerebellum. We studied the electrophysiological behavior of Purkinje cells in genetically engineered alert mice that do not express BK calcium-activated potassium channels and in wild-type mice with pharmacological BK inactivation. We confirmed BK expression in Purkinje cells and also demonstrated it in Golgi cells. We demonstrated that either genetic or pharmacological BK inactivation leads to ataxia and to the emergence of a beta oscillatory field potential in the cerebellar cortex. This oscillation is correlated with enhanced rhythmicity and synchronicity of both Purkinje and Golgi cells. We hypothesize that the temporal coding modification of the spike firing of both Purkinje and Golgi cells leads to the pharmacologically or genetically induced ataxia

Biological Signals Identification by a Dynamic Recurrent Neural Network: from Oculomotor Neural Integrator to Complex Human Movements and Locomotion

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Electrophysiological alterations of the Purkinje cells and deep cerebellar neurons in a mouse model of Alzheimer disease

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