Systemic and intracellular iron starvation response in Friedreich´s Ataxia
Objective: To investigate the hepcidin-ferroportin mediated iron metabolism regulation in Friedreich´s Ataxia (FA). Background: FA is a devastating neurogenetic disorder caused by biallelic GAA expansions…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…Detection of specific antigens in immune-mediated cerebellar ataxias
Objective: We aimed to clarify biomarkers and pathogenic autoantibodies in cerebellar ataxia, especially multiple system atrophy (MSA) and immune-mediated cerebellar ataxias (IMCAs), by detection of…Japanese cases of Sez6l2 autoimmunity
Objective: We aimed to establish a method for measuring anti-Sez6l2 antibody and to clarify how many patients with anti-Sez6l2 antibody-associated cerebellar ataxia (CA) exist in…Aberrant Volume-wise and Voxel-wise Concordance among Dynamic Intrinsic Brain Activity Indices in Parkinson’s Disease
Objective: We sought to explore the concordance between the dynamics of different rs-fMRI regional indices in order to better understand intrinsic brain activity (IBA) alterations and…Tullio phenomenon in CANVAS Syndrome
Objective: To describe Tullio phenomenon in a patient with CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome). Background: CANVAS is a progressive ataxia syndrome…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…
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