A Novel Hyperkinetic–Cerebellar Phenotype with Subependymal Nodules in Glutaric Acidemia Type 1
Objective: To describe an unusual phenotype in Glutaric Acidemia Type 1 (GA1) characterized by a hyperkinetic movement disorder, cerebellar syndrome, and subependymal nodules, expanding the…Plasma Proteomics Reveals Altered Redox Balance And Protein Homeostasis In Spinocerebellar Ataxia Type 12
Objective: The current study aims to identify the dysregulated proteome in the plasma through unbiased proteomics analysis in spinocerebellar ataxia type 12 (SCA12) patients. Background:…An unusual case of cerebellar ischemic stroke initially presenting as isolated hemifacial spasm without other neurological symptoms and signs
Objective: Our aim is to report a case of unusual phenotype of cerebellar ischemic stroke which shows isolated unilateral hemifacial spasm as initial neurological symptoms…Clinical–Radiological Correlation in Patients with brain calcifications: a case series
Objective: The aim of this study was to describe a series of patients with brain calcifications within the Fahr spectrum and to analyze their clinical–radiological…Cerebellar Network Compensation in Parkinson’s Disease: Functional Connectivity Across Motor and Cognitive Circuits
Objective: To investigate whether alterations in cerebellar connectivity with cortical and basal ganglia networks in Parkinson’s disease (PD) represent compensatory network adaptations related to dopaminergic…Multiple System Atrophy-India (MSA-IND) Registry
Objective: To understand Multiple system atrophy (MSA) clinical phenotype from India. Background: There is paucity of data from underrepresented populations including India, regarding the clinical…Accessible Assessment of Ataxia Severity Across Diverse Populations: Integrating Large Datasets, Machine-Learning, and Online Testing
Objective: To explore whether internet-based assessments combined with machine learning approaches can support scalable characterization of ataxia severity. Background: In-person assessments of ataxia severity are…Cerebellar-cortical-spinal information flow for motor kinematic control
Objective: If M1 generates final motor outputs and cerebellar temporal kinematic information must pass through M1, then M1 should relay cerebellar frequency codes to the…Cerebellar-Basal Ganglia Circuitry in the Pathogenesis of Parkinsonian Postural Instability
Objective: To elucidate the role of impaired interactions between the basal ganglia and the cerebellum in the PI development in PD patients. Background: Postural instability…Clinical Gait Traits and Cerebellar-PPN Functional Connectivity Abnormalities in Early and Moderate-to-Advanced PD with Gait Disturbance via Perceptual Technology and MRI
Objective: To investigate clinical gait characteristics and cerebellar-pedunculopontine nucleus (PPN) functional connectivity (FC) changes in early-stage and moderate-to-advanced-stage Parkinson’s disease (PD) with gait disturbance using wearable…
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