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Brain Advance Access published online on May 19, 2006
Brain, doi:10.1093/brain/awl128
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Article

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

Giuliano Tomelleri 1 *, Laura Palmucci 2, Paola Tonin 1, Tiziana Mongini 2, Matteo Marini 1, Roberto L'Erario 3, Nicolò Rizzuto 1, and Gaetano Vattemi 1

1 Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy
2 Center for Neuromuscular Diseases, Department of Neuroscience, University of Torino, Torino, Italy
3 Division of Neurology, San Bortolo Hospital, Vicenza, Italy

* To whom correspondence should be addressed.
Giuliano Tomelleri, E-mail: giuliano.tomelleri{at}univr.it


  Abstract

We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle specimens revealed inclusions of different size and shape. The inclusions did not stain by routine histochemical studies. The sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase and/or calsequestrin reactivity of inclusions, by immunohistochemistry, and the SERCA1- and calsequestrin-increased expression, by immunoblot, suggested that inclusions were constituted by an excess of proteins normally present in the terminal cisternae of sarcoplasmic reticulum. Our cases, both sporadic and familial, represent a new type of surplus protein myopathy.

Keywords: surplus protein myopathy; sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase; calsequestrin; inclusions; vacuolar myopathy.
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