PT  - JOURNAL ARTICLE
AU  - Anke Rietveld
AU  - Judith van Gaalen
AU  - Christiaan Saris
AU  - Kees Okkersen
AU  - Benno Küsters
AU  - Bart van de Warrenburg
AU  - Baziel van Engelen
AU  - Sabrina Sacconi
AU  - Joost Raaphorst
TI  - Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6
AID  - 10.1136/jnnp-2020-323270
DP  - 2020 Jun 23
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - jnnp-2020-323270
4099  - http://jnnp.bmj.com/content/early/2020/06/23/jnnp-2020-323270.short
4100  - http://jnnp.bmj.com/content/early/2020/06/23/jnnp-2020-323270.full
AB  - 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.