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Neuromuscular
Short report
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6
  1. Anke Rietveld1,
  2. Judith van Gaalen1,
  3. Christiaan Saris1,
  4. Kees Okkersen1,
  5. Benno Küsters2,
  6. Bart van de Warrenburg1,
  7. Baziel van Engelen1,
  8. Sabrina Sacconi3,
  9. Joost Raaphorst4
  1. 1 Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, Gelderland, The Netherlands
  2. 2 Department of Pathology, Radboudumc, Nijmegen, Gelderland, The Netherlands
  3. 3 Université Côté Azure (UCA), FHU Oncoage, Peripheral Nervous System and Muscle Department, University Hospital Centre Nice, Nice, Provence-Alpes-Côte d'Azur, France
  4. 4 Department of Neurology, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Noord-Holland, The Netherlands
  1. Correspondence to Anke Rietveld, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen 6500 HB, The Netherlands; Anke.Rietveld{at}radboudumc.nl

Abstract

Objectives To describe the combination of spinocerebellar ataxia (SCA) types 3 and 6 and sporadic inclusion body myositis (IBM).

Methods A description of five patients with SCA type 3 and 6 who were diagnosed with IBM. We explore possible mechanisms explaining the coexistence of both diseases.

Results The patients with SCA-3 (n=4) and SCA-6 (n=1) developed asymmetric muscle weakness in a pattern suggestive of IBM in the course of their disease. Based on findings of neurological examination and additional investigations (muscle ultrasound, muscle biopsy), the diagnosis of IBM was made in all patients.

Conclusion We report on five patients with concomitant SCA and IBM. Our cases may merely illustrate coincidental co-occurrence of IBM and SCA-3/SCA-6. However, the presence of SCA mutations could predispose to the development of IBM in some SCA patients, or, the presence of toxic aggregates and malfunctioning of cellular quality control processes in both diseases could indicate a convergence of disease mechanisms.

  • cerebellar ataxia
  • incl body myositis

http://dx.doi.org/10.1136/jnnp-2020-323270

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    Footnotes

    • AR and JvG are joint first authors.

    • SS and JR are joint senior authors.

    • Contributors Initiative and first draft of the manuscript: AR, JvG, BPW and JR. Data collection: SS, JR, JvG, KO, CS, BGMvE, BK and AR. All authors contributed to and approved of the final version of the manuscript.

    • Funding Research support was offered by Radboud university medical center.

    • Competing interests AR, JvG, CS, KO, BK, SS and JR have nothing to declare. BPW receives research support from ZonMW, Hersenstichting, Gossweiler Foundation, and Radboud university medical center. BGMvE is one of the inventors of a patent (EP20120740236) licensed to Euroimmun AG, he reports a grant from Prinses Beatrix Spierfonds and personal fees and non-financial support from Fulcrum, personal fees from Facio, and grants from European Union’s Horizon 2020 research and innovation programme (Murab), Netherlands Organisation for Scientific Research (NWO), The Netherlands Organisation for Health Research and Development (ZonMw), Global FSH, Stichting Spieren voor Spieren, Dutch FSHD Foundation, and Association Française contre les Myopathies, outside the submitted work.

    • Patient and public involvement statement All patients gave oral consent to use their anonimysed data.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.