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Brain Advance Access originally published online on May 19, 2006
Brain 2006 129(8):2085-2092; 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

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

Giuliano Tomelleri1, Laura Palmucci2, Paola Tonin1, Tiziana Mongini2, Matteo Marini1, Roberto L'Erario3, Nicolò Rizzuto1 and Gaetano Vattemi1

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

Correspondence to: Giuliano Tomelleri, MD, Department of Neurological Sciences and Vision, Section of Clinical Neurology, Piazzale L.A. Scuro 10, 37134 Verona, Italy E-mail: giuliano.tomelleri{at}univr.it.

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.

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

Abbreviations: ATPase, adenosine triphosphatase; CK, creatine kinase; H&E, haematoxylin and eosin; PAS, periodicacid – Schiff; SERCA1, sarcoplasmic or endoplasmic reticulum calcium 1; SR, sarcoplasmic reticulum

Received January 4, 2006. Revised March 8, 2006. Accepted April 12, 2006.


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