ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review

Authors

  • Zita Hubler Washington University in St. Louis, Department of Pathology and Immunology, USA
  • Kaleigh Filisa Roberts Washington University in St. Louis, Department of Pathology and Immunology, USA
  • Nima Sharifai University of Maryland, School of Medicine, Department of Pathology, USA
  • Julia Sim Washington University in St. Louis, Department of Neurology, USA
  • Sophia A. Hung Washington University in St. Louis, Department of Biology, USA
  • Grace E. Robvais Washington University in St. Louis, Department of Biology, USA
  • Alan Pestronk Washington University in St. Louis, Department of Neurology, USA
  • Robert E. Schmidt Washington University in St. Louis, Department of Pathology and Immunology, USA
  • Sonika Dahiya Washington University in St. Louis, Department of Pathology and Immunology, USA
  • Robert C. Bucelli Washington University in St. Louis, Department of Neurology, USA

DOI:

https://doi.org/10.17879/freeneuropathology-2025-8894

Keywords:

Mitchell Syndrome, ACOX1, Pseudo-neonatal adrenoleukodystrophy, Case report

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Published

2025-10-10

How to Cite

Hubler, Z., Roberts, K. F., Sharifai, N., Sim, J., Hung, S. A., Robvais, G. E., Pestronk, A., Schmidt, R. E., Dahiya, S., & Bucelli, R. C. (2025). ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review. Free Neuropathology, 6, 19. https://doi.org/10.17879/freeneuropathology-2025-8894

Issue

Vol. 6 (2025)

Section

Letters

License

Copyright (c) 2025 Zita Hubler, Kaleigh Filisa Roberts, Nima Sharifai, Julia Sim, Sophia A. Hung, Grace E. Robvais, Alan Pestronk, Robert E. Schmidt, Sonika Dahiya, Robert C. Bucelli

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Papers are published open access under the Creative Commons BY 4.0 license. This license lets others distribute, remix, adapt, and build upon your work, even commercially, as long as they credit you for the original creation. Data included in the article are made available under the CC0 1.0 Public Domain Dedication waiver, unless otherwise stated, meaning that all copyrights are waived.