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
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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.
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