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February 09, 2021; 96 (6) NeuroImages

Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant

View ORCID ProfileGuillaume Dorcet, View ORCID ProfileVincent Fabry, View ORCID ProfileFabrice Bonneville, View ORCID ProfilePascal Cintas
First published December 22, 2020, DOI: https://doi.org/10.1212/WNL.0000000000011374
Guillaume Dorcet
From the Département de Neurologie (G.D., V.F., P.C.) and Service de Neuroradiologie (F.B.), Hôpital Pierre Paul Riquet, CHU de Toulouse; INSERM U1043–CNRS UMR 5282 (G.D.), Centre de Physiopathologie Toulouse-Purpan; INSERM U1031–CNRS ERL5311 (V.F.), STROMALab, Toulouse; and Université Paul Sabatier–Toulouse III (P.C.), France.
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Vincent Fabry
From the Département de Neurologie (G.D., V.F., P.C.) and Service de Neuroradiologie (F.B.), Hôpital Pierre Paul Riquet, CHU de Toulouse; INSERM U1043–CNRS UMR 5282 (G.D.), Centre de Physiopathologie Toulouse-Purpan; INSERM U1031–CNRS ERL5311 (V.F.), STROMALab, Toulouse; and Université Paul Sabatier–Toulouse III (P.C.), France.
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Fabrice Bonneville
From the Département de Neurologie (G.D., V.F., P.C.) and Service de Neuroradiologie (F.B.), Hôpital Pierre Paul Riquet, CHU de Toulouse; INSERM U1043–CNRS UMR 5282 (G.D.), Centre de Physiopathologie Toulouse-Purpan; INSERM U1031–CNRS ERL5311 (V.F.), STROMALab, Toulouse; and Université Paul Sabatier–Toulouse III (P.C.), France.
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Pascal Cintas
From the Département de Neurologie (G.D., V.F., P.C.) and Service de Neuroradiologie (F.B.), Hôpital Pierre Paul Riquet, CHU de Toulouse; INSERM U1043–CNRS UMR 5282 (G.D.), Centre de Physiopathologie Toulouse-Purpan; INSERM U1031–CNRS ERL5311 (V.F.), STROMALab, Toulouse; and Université Paul Sabatier–Toulouse III (P.C.), France.
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Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant
Guillaume Dorcet, Vincent Fabry, Fabrice Bonneville, Pascal Cintas
Neurology Feb 2021, 96 (6) 288-289; DOI: 10.1212/WNL.0000000000011374

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A 40-year-old woman and her 38-year-old brother developed since childhood optic neuropathy, absence epilepsy, cognitive disability, cerebellar syndrome, hypertrophic cardiomyopathy, and scoliokyphosis, due to a mitochondriopathy associating MTO1 mutation and an MT-FT variant, both genes involved in mitochondrial tRNA modification.1 Brain MRIs were normal during childhood, but cortical, symmetric hyperintensities of precentral gyri on diffusion-weighted imaging (figure) arose apart from any new symptom, different from previously reported MTO1 mitochondriopathies, only noncortical,2 from status epilepticus, generally unilateral and associated with a thalamic or corpus callosum splenium hypersignal, and from Creutzfeldt-Jakob disease, usually more posterior and associated with pulvinar and basal ganglia hyperintensities.

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Figure MRI Presentation of Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant in Adults

Brain MRIs of a sister (upper line, 39 years old) and her brother (lower line, 37 years old) with MTO1 mutation and MT-FT variant showing cortical, bilateral, symmetric, b1000 DWI hypersignal of the precentral gyri (A, E) without ADC restriction (B, F) nor FLAIR (C, G) or T1 abnormality (D, H).

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Centre Hospitalier Universitaire de Toulouse.

Disclosure

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/Nhttps://n.neurology.org/lookup/doi/10.1212/WNL.0000000000011374 for full disclosures.

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Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • ↵* These authors contributed equally to this work.

  • © 2020 American Academy of Neurology

References

  1. 1.↵
    1. Charif M,
    2. Titah SMC,
    3. Roubertie A, et al
    . Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. Am J Med Genet A 2015;167A:2366–2374.
    OpenUrl
  2. 2.↵
    1. O'Byrne JJ,
    2. Tarailo-Graovac M,
    3. Ghani A, et al
    . The genotypic and phenotypic spectrum of MTO1 deficiency. Mol Genet Metab 2018;123:28–42.
    OpenUrlCrossRefPubMed

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