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…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…
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