Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals. Our findings support the notion that cylindrical spirals, like tubular aggregates, derive primarily from the sarcoplasmic reticulum; however, immunohistochemistry indicates that different molecular components of the sarcoplasmic reticulum may be involved and can be used to distinguish between these different inclusions. The immunohistochemical differences may also help to guide genetic testing.

Source: Journal of Neuropathology and Experimental Neurology - December 7, 2016 Category: Neurology Authors: Brady, S., Healy, E. G., Gang, Q., Parton, M., Quinlivan, R., Jacob, S., Curtis, E., Al-Sarraj, S., Sewry, C. A., Hanna, M. G., Houlden, H., Beeson, D., Holton, J. L. Tags: Original Articles Source Type: research