Ataxia, deafness, aphonia associated with ANNA-1/ /”anti-Hu” and LUZP4 antibodies
Objective: To describe the first case of primary mediastinal seminoma resulting in paraneoplastic syndrome (rhombencephalitis) secondary to two antibodies ANNA-1 and LZUP4. Background: Paraneoplastic neurological…Network localization of limb ataxia
Objective: To identify the neural substrates of limb ataxia caused by stroke lesions. Background: Ataxia is a neurological sign defined by incoordination of voluntary movements.…Targeted sequencing of regulatory regions shows potential SNVs affecting FXN gene expression in Friedreich’s ataxia patients
Objective: To investigate variations in regulatory regions of the FXN gene hampering its expression in Friedreich’s Ataxia (FRDA) patients. To investigate variations in regulatory regions…Cognitive flexibility associates with atrophy and disrupted connectivity of the cognitive cerebellum in degenerative cerebellar ataxia
Objective: This study was to investigate the features of cognitive flexibility in patients with degenerative cerebellar ataxia, and to identify the pathophysiological correlates of cognitive…Evaluation of rapid eye movement behavioral disorder (RBD) in sporadic adult onset ataxia (SAOA)- A prospective observational study
Objective: 1. To evaluate the presence of RBD in patients with SAOA2. To follow up patients of SAOA with RBD whether they develop multiple system…Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration
Objective: Anti-ZIC4 antibodies have recently been associated with paraneoplastic cerebellar degeneration (PCD) and are usually associated with small cell carcinoma lung. However, most of the…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…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…Cortical Correlates of Gait in Pre-Manifest And Early Spinocerebellar Ataxia
Objective: We investigated whether prefrontal cortex activity is increased during walking in pre-manifest and early spinocerebellar ataxia (SCA) compared to healthy controls. Background: Spinocerebellar ataxia…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…
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