Two-year longitudinal evaluation of ataxia and brain structural changes in RFC1-related disorder
Objective: To describe the evolutionary pattern of brain structural changes in patients with RFC1-related disorder. Background: Specific brain structural changes have been described in patients…Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Movement disorders in Brain Sagging Syndrome- A Systematic Review
Objective: Objective: This study aims to systematically review the array of movement disorders observed in patients diagnosed with brain sagging syndrome (BSS) secondary to spontaneous…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…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…
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