A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L‐serine completely resolved the ichthyosis. Consideration of this diagnosis is important because early treatment with L‐serine repletion can halt progression of neurodegeneration and potentially improve neurological disabilities. As exome sequencing becomes more widely implemented in the diagnostic evaluation of progressive neurodegenerative phenotypes, adult neurologists and geneticists will increasingly encounter later onset manifestations of inborn errors of metabolism classically considered in infancy and early childhood.

Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the peripheral nervous system and central nervous system. The disease is caused by biallelic mutations in the GAN gene located on 16q23.2, leading to loss of functional gigaxonin, a substrate specific ubiquitin ligase adapter protein necessary for the regulation of intermediate filament turnover. Here, we report on cross-sectional data from the first study visit of a prospectively collected natural history study of 45 individuals, age range 3–21 years with genetically confirmed giant axonal neuropathy to describe and cross-correlate baseline clinical and functional cohort characteristics. We review causative variants distributed throughout the GAN gene in this cohort and identify a recurrent founder mutation in individuals with giant axonal neuropathy of Mexican descent as well as cases of recurrent uniparental isodisomy. Through cross correlation analysis of measures of strength, motor function, and electrophysiologic markers of disease severity, we identified the Motor Function Measure 32 (MFM-32) to have the strongest correlation across measures and age in individuals with giant axonal neuropathy. We analysed the Motor Function Measure 32 scores as they correspond to age and ambulatory status. Importantly, we identified and characterized a sub cohort of individuals with a milder form of giant axonal neuropathy and with a presentation similar to Charcot-Marie-Tooth disease. Such a clinical presentation is distinct from the classic presentation of giant axonal neuropathy, and we demonstrate how the two groups diverge in performance on the Motor Function Measure 32 and other functional motor scales. We further present data on the first systematic clinical analysis of autonomic impairment in giant axonal neuropathy as performed on a subset of the natural history cohort. Our cohort of individuals with genetically confirmed giant axonal neuropathy is the largest reported to date and highlights the clinical heterogeneity and the unique phenotypic and functional characteristics of giant axonal neuropathy in relation to disease state. The present work is designed to serve as a foundation for a prospective natural history study and functions in concert with the ongoing gene therapy trial for children with giant axonal neuropathy.

Objective To review changes made by otolaryngology residency program directors (PDs) during the 2020-2021 National Resident Matching Program (NRMP) match cycle and describe their attitudes toward the 2021-2022 match cycle. Methods Cross-sectional study using an anonymous 31-item online survey in Research Electronic Data Capture (REDCap) with questions regarding the 2020-2021 NRMP match. This survey was distributed to 125 PDs from Accreditation Council for Graduate Medical Education (ACGME)-accredited otolaryngology residency programs. Results Thirty-three PDs responded (26.4%). Of the PDs, 78.8% had an online info-session prior to the start of the cycle, and 30.3% reported that an increased number of applicants contacted them compared to the prior cycle. There were no changes made in Step 1 criteria (72.7%), and 81.8% reported no changes in interview selection. Of the PDs, 54.5% reported interviewing more candidates. Respondents reported a decreased cancellation rate (66.7%) and cost of recruiting (87.9%); 87.9% said that they did not change the way they developed their rank order list (ROL), and 84.8% reported matching at their usual level compared to prior years. Of the respondents, 42.4% reported making a change that was an overall improvement for their program. Of the PDs, 34.4% were unsure whether they would sustain virtual interviews in 2021-2022, 25% stated that they would not incorporate virtual interviews, and 40.7% stated that they would incorporate a virtual interview in some part of the cycle. Conclusion Otolaryngology PDs approached virtual interviewing in different ways. Despite the changes made, applicants can find comfort in knowing that match outcomes were perceived as typical by a majority of PDs.