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…Anti Yo-1 Antibody Syndrome: A Case Study of a Paraneoplastic Syndrome Mimicking Atypical Parkinsonism
Objective: To report the case of a patient with anti Yo-1 antibody syndrome mimicking clinically and radiologically as an atypical parkinsonism. Background: The anti Yo-1…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…Anti-Yo Syndrome Presenting as an Isolated Head Tremor with Vertigo
Objective: To highlight the prodromal and syndromic features of Anti-Yo/PCA-1 syndrome. Background: A 50-year-old female initially presented with a 1-month history of headaches and vertigo.…
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