Publications by authors named "D Selcen"
Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).
Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.
Article Synopsis
- The study focuses on a novel variant of the AIFM1 gene linked to early-onset hearing loss and progressive cerebellar ataxia in two siblings.
- Clinical evaluations included brain MRI scans, electromyography (EMG) studies, and whole genome sequencing (WGS), revealing various neurological symptoms and a unique genetic mutation.
- The findings suggest that AIFM1 variants should be considered in hereditary cases of cerebellar ataxia and auditory issues, contributing new insights into the genetic spectrum of related diseases.
Article Synopsis
- - This study introduces a new type of autoimmune myopathy called immune-mediated megaconial myopathy (IMMM), which is recognized by the presence of giant mitochondria in muscle tissue.
- - Researchers analyzed data from the Mayo Clinic to identify five patients with cases of IMMM, who displayed symptoms like progressive muscle weakness, high creatine kinase levels, and specific muscle fiber characteristics.
- - Treatment with immunomodulatory therapy showed improvements in most patients, and interestingly, all of them had simultaneous pancreatic diseases, suggesting a possible link that requires further investigation.
Introduction: Spinal muscular atrophy (SMA) is caused by homozygous loss of the gene with gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other. The pathogenic missense variant c.
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