Neuroscience
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Case Reports
Co-occurrence of Parkinson's disease and Retinitis Pigmentosa: A genetic and in silico analysis.
Parkinson's disease (PD) is primarily driven by the protein Alpha Synuclein (A-Syn) accumulation. Synphilin-1 protein, encoded by the SNCAIP gene, which co-localizes with A-Syn is a known risk factor for PD. Retinitis pigmentosa (RP), is a cluster of retinal degenerative disorders, and Cyclic Nucleotide Gated channel subunit Alpha 1 (CNGA1) is one of the initial genes associated with RP. Patients with PD can have various kinds of visual dysfunction as a non-motor manifestation, but to date, CNGA1 mutation and RP as a PD associated visual symptom has not been reported. We report a mutation in the SNCAIP gene in a PD patient, not reported earlier, and its co-occurrence with RP-associated CNGA1 gene mutation. ⋯ The current study has determined the co-occurrence of RP and PD, whole exome sequencing ascertains the mutations in SNCAIP and CNGA1 genes, which could be the cause of PD and RP co-occurrence.
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Empathy deficiencies are prevalent among deaf individuals. It has yet to be determined whether they exhibit deficiencies in both trait empathy and state empathy, along with the effect of top-down attention. ⋯ For state empathy, we found that deaf individuals showed stronger automatic emotional empathy responses and paid more cognitive evaluation resources. Moreover, the differential processing of empathy between deaf individuals and hearing individuals towards others' pain could be regulated by top-down attention, which occurs both in the early and late processing stages of pain empathy.
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Ischemic stroke represents an urgent need for more efficacious therapies owing to modest effectiveness of current treatment. ⋯ PIK3CG knockdown protects neuronal cells by inhibiting AMPK/mTOR autophagy pathway and further inhibiting autophagy.
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Complexity of neuronal firing patterns may serve as an indicator of sensory information processing across different states of consciousness. Recent studies have shown that spontaneous changes in brain states can occur during general anesthesia, which may influence neuronal complexity and the state of consciousness. In this study, we investigated how the firing patterns of cortical neurons, both at rest and during visual stimulation, are affected by spontaneously changing brain states under varying levels of anesthesia. ⋯ However, this was contradicted by the observation of low neuronal complexity in both spontaneous and stimulus-related spike activity, which more closely aligns with unconsciousness. Our findings reveal that transient neuronal states with distinct spiking patterns can emerge in visual cortex at constant anesthetic concentrations. The reduced complexity in states associated with deep anesthesia likely indicates a disruption of conscious sensory information processing.
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Chronic insomnia (CI) is a common sleep disorder in middle-aged and elderly individuals. Long-term sleep deprivation can lead to physical, mental, and cognitive damage. Resting-state networks (RSNs) in the brain are closely linked to cognition and behavior. ⋯ Moreover, FC values in the right middle frontal gyrus within right frontal parietal network of CI-I patients were negatively correlated with the Mini-Mental State Examination scores. These results may explain hyperarousal, attention deficit and motor impairments in CI patients. Furthermore, the aberrant alterations of RSNs in CI-I patients may play a crucial role in the onset and progression of cognitive impairment in CI patients.