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.
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References
Askanas V, Engel WK (1992) Cultured normal and genetically abnormal human muscle. Handb Clin Neurol 18:85–116
Bove KE, Jannaccone ST, Hilton PK, Samaha F (1980) Cylindrical spirals in a familial neuromuscular disorders. Ann Neurol 7:550–556
Carpenter S, Karpati G, Robitaille Y, Melmed C (1979) Cylindrical spirals in human skeletal muscle. Muscle Nerve 2:282–287
Danon MJ, Carpenter S, Harati Y (1989) Muscle pain associated with tubular aggregates and structures resembling cylindrical spirals. Muscle Nerve 12:265–272
Davis LG, Dibner MD, Battej JF (1986) Rapid DNA preparation. In: Davis LG (ed) Basic methods in molecular biology. Elsevier, New York, pp 42–50
Dubowitz V (1985) Muscle biopsy: a practical approach, 2nd edn. Ballière Tindall, London
Engel AG, Banker BQ (1994) Ultrastructural changes in diseased muscle. In: Engel AG, Franzini-Armstrong C (eds) Myology, 2nd edn. McGraw-Hill, New York, pp 944–946
Engel AG, Dale AJD (1968) Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observation. Mayo Clin Proc 43:233–279
Gibbels E, Henke U, Schädlich HJ, Haupt WF, Fiehn W (1983) Cylindrical spirals in skeletal muscle: further observation with clinical morphological and biochemical analysis. Muscle Nerve 6:646–655
McDougall J, Wiles CM, Edwards RHT (1980) Spiral membrane cylinders in the skeletal muscle of a patient with melorheostosis. Neuropathol Appl Neurobiol 6:69–74
Mita S, Schidt B, Schon EA, DiMauro S, Bonilla E (1989) Detection of “deleted” mitochondrial genomes in cytochrome c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Med Sci 86:9509–9513
Nicholson LV, Davison K, Johnson MA, Slater CR, Young C, Bhattacharya S, Gardner-Medwin D, Harris JB (1989) Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci 94:137–146
Nicholson LV, Davison K, Falkous G, Harwood C, O'Donnel E, Slater CR, Harris JB (1989) Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J Neurol Sci 94:125–136
Ohno K, Tanaka M, Sahashi K, Ibi T, Sato W, Yamamoto T, Takahasi A, Ozawa T (1991) Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 29:364–369
Ording H (1988) Diagnosis of susceptibility to malignant hyperthermia in man. Br J Anaesth 60:287–302
Pavla TK, Pavla ET (1985) Rapid isolation of animal mitochondrial DNA by alcaline extraction. FFBS Lett 192:267–270
Scholte HR, Jennekens FGI, Bouvy JJBJ (1979) Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. J Neurol Sci 40:39–51
Selignan AM, Karnowski MJ, Wassrekrug HL, Hanker JS (1968) Non droplet ultrastructural demonstration of cytochrome c oxidase activity with a polimerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol 38:1–14
Taratuto AL, Matteucci M, Barreiro C, Saccolitti M, Sevlever G (1991) Autosomal dominant neuromuscular disease with cylindrical spirals. Neuromuscul Disord 1:433–441
Thomas PK, Workman JM, Thage O (1984) Behr's syndrome. A family exhibiting pseudodominant inheritance. J Neurol Sci 64:137–148
Yamamoto H, Sahashi K, Mitzuno Y, Ibi T, Sobue G (1982) A case of a mitochondrial myopathy with cylindrical spirals. Clin Neurol 22:224–250
Zeviani M, Moraes CT, Di Mauro S, Nakase H, Bonilla E, Schon EA, Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339–1346
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Rapuzzi, S., Prelle, A., Moggio, M. et al. High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy. Acta Neuropathol 90, 660–664 (1995). https://doi.org/10.1007/BF00318582
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DOI: https://doi.org/10.1007/BF00318582