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…Frequency and Phenotypic Characterization of Genetic Causes of Sporadic Late-Onset Cerebellar Ataxia: insights from a Cohort of 315 patients
Objective: To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features of genetically determined SLOCA and implement a machine learning model for rationalizing SLOCA…Clinical Spectrum of Cerebellar Fits in Adults and Children: A Systematic Review
Objective: To systematically review the clinical characteristics, etiological associations, electroencephalographic findings, management strategies, and outcomes of cerebellar fits across pediatric and adult populations. Background: Cerebellar…Cerebellar peduncle microstructure and autonomic dysfunction in Parkinson’s disease
Objective: To investigate whether cerebellar peduncle microstructure is associated with autonomic dysfunction in Parkinson’s disease (PD). Background: Autonomic dysfunction is a common and disabling non-motor…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:…
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