Does CANVAS mimic MSA-C
Objective: To describe the natural history of RFC1-related ataxia, identify discriminative features compared to MSA-C, and study their survival outcomes. Background: AAGGG intronic expansions in…Altered Motor Regulation and Limbic-Motor Circuits in Paroxysmal Kinesigenic Dyskinesia
Objective: To explore underlying circuit-level mechanisms in paroxysmal kinesigenic dyskinesia (PKD). Background: While the cortico-striato-thalamo-cortical loop and cerebellum are implicated in PKD pathophysiology, the causal…MLR–cerebellar network in body-first vs. brain-first PD: functional connectivity and clinical correlation with gait impairment
Objective: This study aims to clarify subtype-specific changes in mesencephalic locomotor region (MLR)-cerebellar functional connectivity(FC)[1][2] between body-first and brain-first Parkinson’s disease (PD) patients[3][4], and to further characterize…Cerebellar α-Synucleinopathy Contributes to Gait and Balance Impairment in Parkinson’s Disease
Objective: To determine whether cerebellar α-synuclein (α-syn) pathology contributes to the onset and progression of postural instability and gait difficulty (PIGD)-like motor deficits in Parkinson’s…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…
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