Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP

J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):1022-1024. doi: 10.1136/jnnp-2020-325803. Epub 2021 Mar 16.

Authors

Matthew Nolan¹, Paola Barbagallo¹, Martin R Turner¹, Michael John Keogh², Patrick F Chinnery³, Kevin Talbot¹, Olaf Ansorge⁴

Affiliations

¹ Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
² Biosciences Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
³ Department of Clinical Neurosciences, MRC Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK.
⁴ Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK olaf.ansorge@ndcn.ox.ac.uk.

No abstract available

Keywords: ALS; genetics; neuropathology.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / pathology
Cell Cycle Proteins / genetics*
Humans
Membrane Transport Proteins / genetics*
Motor Cortex / pathology
Mutation*
Oligodendroglia / pathology

Substances

Cell Cycle Proteins
Membrane Transport Proteins
OPTN protein, human

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