• J. Neurol. Neurosurg. Psychiatr. · Aug 2020

    Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6.

    • Anke Rietveld, Judith van Gaalen, Christiaan Saris, Kees Okkersen, Benno Küsters, Bart van de Warrenburg, Baziel van Engelen, Sabrina Sacconi, and Joost Raaphorst.
    • Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, Gelderland, The Netherlands Anke.Rietveld@radboudumc.nl.
    • J. Neurol. Neurosurg. Psychiatr. 2020 Aug 1; 91 (8): 876-878.

    ObjectivesTo describe the combination of spinocerebellar ataxia (SCA) types 3 and 6 and sporadic inclusion body myositis (IBM).MethodsA 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.ResultsThe 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.ConclusionWe 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.© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

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