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Alpha6-containing GABA receptors - Novel targets for the treatment of schizophrenia.
Pharmacol Res
January 2025
Center for Brain Research, Department of Molecular Neurosciences, Medical University Vienna, Vienna, Austria. Electronic address:
α6-containing GABA receptors (α6GABARs) are strongly expressed in cerebellar granule cells and are of central importance for cerebellar functions. The cerebellum not only is involved in regulation of motor activity, but also in regulation of thought, cognition, emotion, language, and social behavior. Activation of α6GABARs enhances the precision of sensory inputs, enables rapid and coordinated movement and adequate responses to the environment, and protects the brain from information overflow.
View Article and Find Full Text PDFImaging Biomarker Studies of Antipsychotic-Naïve First-Episode Schizophrenia in China: Progress and Future Directions.
Schizophr Bull
January 2025
Department of Radiology, and Functional and Molecular Imaging Key Laboratory of Sichuan Province, West China Hospital, Sichuan University, Chengdu 610041, China.
Background And Hypothesis: Identifying biomarkers at onset and specifying the progression over the early course of schizophrenia is critical for better understanding of illness pathophysiology and providing novel information relevant to illness prognosis and treatment selection. Studies of antipsychotic-naïve first-episode schizophrenia in China are making contributions to this goal.
Study Design: A review was conducted for how antipsychotic-naïve first-episode patients were identified and studied, the investigated biological measures, with a focus on neuroimaging, and how they extend the understanding of schizophrenia regarding the illness-related brain abnormality, treatment effect characterization and outcome prediction, and subtype discovery and patient stratification, in comparison to findings from western populations.
Stroke associated with microvascular tumoral infiltration in a patient with metastatic breast cancer.
Radiol Case Rep
March 2025
Maimonides Medical Center, Department of Radiology 4802 10th Avenue, Brooklyn, NY 11219, USA.
Leptomeningeal carcinomatosis is a form of advanced metastatic disease conferring poor prognosis, most commonly associated with melanoma, small cell lung cancer, and breast cancer. In rare cases it has been shown to be associated with stroke thought to be related to vasculopathy caused by tumoral infiltration of cerebral vasculature. We present a case of acute cerebellar infarction in a patient with metastatic breast cancer complicated by leptomeningeal carcinomatosis, admitted for worsening metastatic disease.
View Article and Find Full Text PDFAcute Vestibular Syndrome Unmasking an -Spectrum Disorder.
Neurol Genet
February 2025
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Objectives: Since the discovery of biallelic pentanucleotide expansions in as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a -spectrum disorder.
Methods: Detailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent Gene Variant.
Neurol Genet
February 2025
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
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