High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy

S. Rapuzzi, A. Prelle, M. Moggio, C. Rigoletto, P. Ciscato, G. Comi, F. Francesca, G. Scarlato

Research output: Contribution to journalArticlepeer-review

Abstract

We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are a nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.

Original languageEnglish
Pages (from-to)660-664
Number of pages5
JournalActa Neuropathologica
Volume90
Issue number6
DOIs
Publication statusPublished - Dec 1995

Keywords

  • Cylindrical spirals
  • High serum creatine kinase values

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine
  • Clinical Neurology

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