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From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Autophagy Modulates Glioblastoma Cell Sensitivity to Selinexor-mediated XPO1 inhibition.
Neuro Oncol
December 2024
Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: Selinexor is a selective inhibitor of exportin-1 (XPO1), a key mediator of the nucleocytoplasmic transport for molecules critical to tumor cell survival. Selinexor's lethality is generally associated with the induction of apoptosis, and in some cases, with autophagy-induced apoptosis. We performed this study to determine Selinexor's action in glioblastoma (GBM) cells, which are notoriously resistant to apoptosis.
View Article and Find Full Text PDFThe serotonergic psychedelic DOI impairs deviance detection in the auditory cortex.
J Neurophysiol
December 2024
Institute of Neuroscience, University of Oregon. Eugene, OR 97403.
Psychedelics are known to induce profound perceptual distortions, yet the neural mechanisms underlying these effects, particularly within the auditory system, remain poorly understood. In this study, we investigated the effects of the psychedelic compound 2,5-Dimethoxy-4-iodoamphetamine (DOI), a serotonin 2A receptor agonist, on the activity of neurons in the auditory cortex of awake mice. We examined whether DOI administration alters sound-frequency tuning, variability in neural responses, and deviance detection (a neural process reflecting the balance between top-down and bottom-up processing).
View Article and Find Full Text PDFThe relationship among HS, neuroinflammation and MMP-9 in BBB injury following ischemic stroke.
Int Immunopharmacol
December 2024
Department of Pharmacology, School of Basic Medical Sciences, Anhui Medical University, Hefei, China. Electronic address:
Article Synopsis
- The blood-brain barrier (BBB) plays a crucial role in maintaining the central nervous system's environment and can be damaged by CNS diseases such as ischemic stroke, leading to worse outcomes.
- Excessive neuroinflammation after a stroke, triggered by the need to repair damaged tissue, contributes to BBB breakdown and neuronal injury, partly due to the action of matrix metalloproteinases (MMPs).
- Hydrogen sulfide (HS) shows promise as a neuroprotective agent against BBB damage following stroke by reducing neuroinflammation and inhibiting MMP-9, revealing potential therapeutic pathways.
Virtual reality modulating dynamics of neuroplasticity: Innovations in neuro-motor rehabilitation.
Neuroscience
December 2024
Smt. Kishoritai Bhoyar College of Pharmacy, Kamptee, Nagpur, Maharashtra 441002, India. Electronic address:
Virtual reality (VR) technology has emerged as a ground-breaking tool in neuroscience, revolutionizing our understanding of neuroplasticity and its implications for neurological rehabilitation. By immersing individuals in simulated environments, VR induces profound neurobiological transformations, affecting neuronal connectivity, sensory feedback mechanisms, motor learning processes, and cognitive functions. These changes highlight the dynamic interplay between molecular events, synaptic adaptations, and neural reorganization, emphasizing the potential of VR as a therapeutic intervention in various neurological disorders.
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