Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome

COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the

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Copyright © 2023 Chapleau, Boucher, Pastinen, Thiffault, Gould and Bernard.

Déclaration de conflit d'intérêts

GB was a consultant for Passage Bio Inc., (2020-2022) and Ionis (2019). She is/was a site investigator for the AlexanderŠs disease trial of Ionis (2021-present), Metachromatic leukodystrophy of Shire/Takeda (2020-2021), Krabbe and GM1 gene therapy trials of Passage Bio (2021-present), GM1 natural history study from the University of Pennsylvania sponsored by Passage Bio (2021-present) and Adrenoleukodystrophy/Hematopoietic stem cell transplantation natural history study of Bluebird Bio (2019), a site sub-investigator for the MPS II gene therapy trial of Regenxbio (2021-present), and the MPS II clinical trial of Denali (2022-present). She has received an unrestricted educational grant from Takeda (2021-2022). She serves on the scientific advisory board of the Pelizaeus-Merzbacher Foundation, the Yaya Foundation Scientific and Clinical Advisory Council and the Chair of the Medical and Scientific Advisory Board of the United Leukodystrophy Foundation. She is a member of the Vanishing White Matter Consortium, the H-ABC Clinical Advisory Board, MLC Clinical Expert Consortium and the Chair of the POLR3-related (4H) Leukodystrophy Consortium. She is on the editorial boards of Neurology Genetics, Frontiers in Neurology – Neurogenetics, and Journal of Medical Genetics. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.