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Tremor in the Age of Omics: An Overview of the Transcriptomic Landscape of Essential Tremor.
Cerebellum
January 2025
Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Essential Tremor (ET) is the most common movement disorder and has a worldwide prevalence of 1%, including 5% of the population over 65 years old. It is characterized by an active, postural or kinetic tremor, primarily affecting the upper limbs, and is diagnosed based on clinical characteristics. The pathological mechanisms of ET, however, are mostly unknown.
View Article and Find Full Text PDFWhole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFCerebellar Volume Measures Differentiate Multiple Sclerosis Fallers from Non-Fallers.
Brain Sci
January 2025
Translational Neuroscience Program, Wayne State University, Detroit, MI 48201, USA.
Introduction: The cerebellum is a common lesion site in persons with multiple sclerosis (PwMS). Physiologic and anatomic studies have identified a topographic organization of the cerebellum including functionally distinct motor and cognitive areas. In this study, a recent parcellation algorithm was applied to a sample of PwMS and healthy controls to examine the relationships among specific cerebellar regions, fall status, and common clinical measures of motor and cognitive functions.
View Article and Find Full Text PDFAssociation of individual-based morphological brain network alterations with cognitive impairment in type 2 diabetes mellitus.
Front Neurol
January 2025
Department of Radiology, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.
Objective: To investigate the altered characteristics of cortical morphology and individual-based morphological brain networks in type 2 diabetes mellitus (T2DM), as well as the neural network mechanisms underlying cognitive impairment in T2DM.
Methods: A total of 150 T2DM patients and 130 healthy controls (HCs) were recruited in this study. The study used voxel- and surface-based morphometric analyses to investigate morphological alterations (including gray matter volume, cortical thickness, cortical surface area, and localized gyrus index) in the brains of T2DM patients.
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.
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