Challenging diagnosis of familial Gerstmann-Straussler-Scheinker disease with normal brain image: a case report and systematic review
Objective: We report a case of familial Gerstmann-Straussler-Scheinker (GSS) disease, who presented with cerebellar ataxia, but did not show abnormalities in diffusion weighted image (DWI)…Impaired reinforcement learning in patients with cerebellar ataxia
Objective: To further characterize cerebellar learning processes as well as learning impairment pattern in patients with cerebellar dysfunction. Background: Supervised learning (i.e., learning from error)…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…Social cognition in patients with cerebellar neurodegenerative disorders
Objective: The aim of this study was to investigate social cognition (SC) in patients with different cerebellar neurodegenerative disorders (CDs). Background: CDs are a heterogeneous…Electrophysiologic and Kinematic characterization of degenerative cerebellar ataxia
Objective: To characterize degenerative cerebellar ataxia by measuring quantitative electrophysiology, upper limb kinematics and gait. Background: Loss of cerebellar brain inhibition (CBI) in ataxia leads…Neuropsychological evaluation of cerebellar cognitive function in a series of patients with genetically confirmed CANVAS.
Objective: We aim to present the cerebellar cognitive affective evaluation and phenotypic description of a series of genetically confirmed CANVAS. Background: Cerebellar ataxia, neuropathy and…Role of the cerebellocortical pathway in the pathophysiology of adult with Tourette’s syndrome
Objective: To assess state-dependent cerebellar-cortical connectivity, through transcranial magnetic stimulation (TMS), in adult patients with Tourette Syndrome (TS) during a voluntary tic inhibition task. A…Anti-Ma2 Antibody Paraneoplastic Cerebellar Degeneration Associated with Renal Cell Carcinoma: A Case Report.
Objective: To highlight a unique case of Anti-Ma2 antibody paraneoplastic cerebellar degeneration (PCD) associated with renal cell carcinoma (RCC). Background: Paraneoplastic neurologic syndromes are a…Neural correlates of Parkinson’s disease dysgraphia
Objective: This study aims to evaluate the functional correlates of Parkinson’s disease (PD) dysgraphia from coupled fMRI and kinematic recordings. Background: Beyond the abnormal reduction…3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.
Objective: 1. To study the miRNA binding site variations by direct sequencing of 3’ UTR of ATXN-2gene.2. To check the mRNA expression by using qRT-PCR…
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