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An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Mov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFObjective: To explore the effect of combined rehabilitation training and transcutaneous vagus nerve electrical stimulation (t-VNS) on promoting central nervous system remodeling and neurological function recovery in stroke patients.
Methods: A total of 124 S patients admitted to our hospital from January to December 2023 were included in this study. The therapeutic effects were evaluated using the Modified Barthel Index (MBI) and the simplified Fugl-Meyer Assessment Scale (sFMA) to measure patients' activities of daily living and motor function recovery.
Integrating behavioral and neurophysiological insights: High trait anxiety enhances observational fear learning.
Neuroimage
January 2025
Institute for Brain and Psychological Sciences, Sichuan Normal University, Chengdu, 610066, China. Electronic address:
Observational fear learning delineates the process by which individuals learn about potential threats through observing others' reactions. Prior research indicates that individuals with high trait anxiety (HTA) manifest pronounced fear responses in direct fear learning scenarios. However, the specific influence of trait anxiety on observational fear learning remains insufficiently explored.
View Article and Find Full Text PDFSpreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache.
Brain
January 2025
Institute of Neurological Sciences and Psychiatry, Hacettepe University, 06100, Ankara, Turkey.
Cortical spreading depolarization (CSD), the neurophysiological event believed to underlie aura, may trigger migraine headaches through inflammatory signaling that originates in neurons and spreads to the meninges via astrocytes. Increasing evidence from studies on rodents and migraine patients supports this hypothesis. The transition from pro-inflammatory to anti-inflammatory mechanisms is crucial for resolving inflammation.
View Article and Find Full Text PDFComplex auditory regularity processing across levels of consciousness in coma: Stage 1 Registered Report.
Brain Commun
December 2024
Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), University of Lausanne, 1011 Lausanne, Switzerland.
A key question for the scientific study of consciousness is whether it is possible to identify specific features in brain activity that are uniquely linked to conscious experience. This question has important implications for the development of markers to detect covert consciousness in unresponsive patients. In this regard, many studies have focused on investigating the neural response to complex auditory regularities.
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