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…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…Metabolic profile in the brain with Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Objective: We analyzed changes in the concentration of primary metabolites in post-mortem brain samples from FXTAS cases. We also investigated how these changes relate to…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…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…
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