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Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation

Journal of Human Genetics volume 66, pages 1035–1037 (2021)Cite this article

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Abstract

Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named “infantile-onset transient hypomyelination”. Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time was surprisingly benign with a progressive spontaneous improving course. We report on a new TMEM63A-mutated girl. The clinical picture was similar to the one already described except for the presence of recurrent episodes of unilateral eyelid twitching, and for the evidence of spinal cord involvement on MRI. These are interesting findings helping in distinguishing this condition from classic PMD since early disease stages. However, additional observations are needed to confirm if these are common features of this condition.

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Authors and Affiliations

  1. Child Neurology Unit,V. Buzzi Children’s Hospital, Milano, Italy

    Davide Tonduti, Eleonora Mura, Silvia Masnada & Pierangelo Veggiotti

  2. COALA (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children’s Hospital, Milano, Italy

    Davide Tonduti, Eleonora Mura, Silvia Masnada, Pierangelo Veggiotti, Luigina Spaccini & Cecilia Parazzini

  3. Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Enrico Bertini & Chiara Aiello

  4. Child Neurorehabilitation Service, Regional Hospital of Bressanone, Bressanone, Italy

    Daniela Zini

  5. Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy

    Lucio Parmeggiani

  6. Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy

    Gaetano Cantalupo

  7. Department of Diagnostics and Pathology, Neuroradiology Unit, Verona University Hospital, Verona, Italy

    Giacomo Talenti

  8. Department of Biomedical and Clinical Sciences, L. Sacco, Università di Milano, Milano, Italy

    Pierangelo Veggiotti

  9. Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children’s Hospital, University of Milan, Milan, Italy

    Luigina Spaccini

  10. Molecular Genetics Section, Medical Genetics Laboratory, Papa Giovanni XXIII Hospital, Bergamo, Italy

    Maria Iascone

  11. Paediatric Radiology and Neuroradiology Department, V. Buzzi Children’s Hospital, Milano, Italy

    Cecilia Parazzini

Authors
  1. Davide Tonduti
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  2. Eleonora Mura
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  3. Silvia Masnada
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  4. Enrico Bertini
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  5. Chiara Aiello
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  6. Daniela Zini
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  7. Lucio Parmeggiani
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  8. Gaetano Cantalupo
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  9. Giacomo Talenti
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  10. Pierangelo Veggiotti
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  11. Luigina Spaccini
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  12. Maria Iascone
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  13. Cecilia Parazzini
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Corresponding author

Correspondence to Davide Tonduti.

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Tonduti, D., Mura, E., Masnada, S. et al. Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation. J Hum Genet 66, 1035–1037 (2021). https://doi.org/10.1038/s10038-021-00921-1

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  • DOI: https://doi.org/10.1038/s10038-021-00921-1

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