Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study (original) (raw)
Summary
The clinical, morphological and biochemical findings of a sporadic case, showing accumulation of desmin-type intermediate filaments in skeletal muscle and myocardium are described. Desmin storage was demonstrated by immunofluorescence, sodium dodecyl sulfate gel electrophoresis and two-dimensional gel electrophoresis. These findings are in agreement with those of Rappaport et al. (FEBS Lett. 231:421–425, 1989). A sensory-motor polyneuropathy was established by electrophysiological studies and, ultrastructurally, intramuscular nerves showed accumulation of neurofilaments and neurotubules with formation of axonal spheroids. These findings are discussed considering all previous reports with related conditions.
Access this article
Subscribe and save
- Get 10 units per month
- Download Article/Chapter or eBook
- 1 Unit = 1 Article or 1 Chapter
- Cancel anytime Subscribe now
Buy Now
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Instant access to the full article PDF.
Similar content being viewed by others
References
- Bertini F, Ricci E, Boldrini R, Servidei S, Fusilli S, Dionisi-Vici C, Bosman C, Bonilla E (1991) Involvement of respiratory muscles in cytoplasmic body myopathy. A pathological study. Brain Dev (in press)
- Calderon A, Becker LE, Murphy EG (1987) Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity. Pediatr Neurosci 13:108–112
Google Scholar - Carpenter S, Karpati G (1984) Pathology of skeletal muscle, 1st edn. Churchill Livingstone, New York, pp 607–613
Google Scholar - Chapon F, Viader F, Fardeau M, Tomé F, Dalunzeau N, Berthelin C, Thénint JP, Le Chevalier B (1989) Myopathie familiale avec inclusions de type “corps cytoplasmatiques” (ou “spheroids”) révélée par un insuffisance respiratoire. Rev Neurol (Paris) 145:460–465
Google Scholar - Dubowitz V (1985) Muscle biopsy. A practical approach, 2nd edn. Bailleire-Tindall, London, pp 3–40
Google Scholar - Edström L, Thornell LE, Eriksson A (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletal) filaments. J Neurol Sci 47:171–190
Google Scholar - Edström L, Thornell LE, Albo J, Landin S, Samuelsson M (1990) Myopathy with respiratory failure and typical myofibrillar lessions. J Neurol Sci 96:211–228
Google Scholar - Fardeau M, Godet-Guillain J, Tomé FMS, Collin H, Godeau S, Boffety C, Vermont P (1978) Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris) 134:411–425
Google Scholar - Faulstich H, Zobeley S, Rinnerthaler G, Small JV (1988) Fluorescent phallotoxins as probes for filamentous actin. J Muscle Res Cell Motil 9:370–383
Google Scholar - Fidzianska A, Goebel HH, Osborn M, Lenard HG, Osse G, Langenbeck U (1983) Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve 6:195–200
Google Scholar - Goebel HH, Lenard HG, Langenbeck U, Mehl B (1980) A form of congenital muscular dystrophy. Brain Dev 2:387–400
Google Scholar - Jerusalem F, Ludin H, Bischoff A, Hartmann G (1979) Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. J Neurol Sci 41:1–9
Google Scholar - Laemmli UK (1970) Cleavage of structural protein during the assembly of the head of bacteriophage T4. Nature 227:680–685
Google Scholar - Liu HM, Gumbinas M (1974) Axonal filamentous spheroids associated with cardiomyopathy with targhetoid fibres. Clinical, histological and electron microscopic studies. Neurology 24:547–554
Google Scholar - Mizuno Y, Nakamura Y, Kamiya K (1989) The spectrum of cytoplasmic body myopathy. Report of a congenital severe case. Brain Dev 11:20–25
Google Scholar - O'Farrell PH (1975) High resolution two-dimensional electrophoresis of protein. J Biol Chem 250:4007–4021
Google Scholar - Osborne M, Goebel HH (1983) The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (Berl) 62:149–152
Google Scholar - Pellissier JF, Pouget J, Charpin C, Figarella D (1989) Myopathy asociated with desmin type intermediate filaments. An immunoelectron microscopic study. J Neurol Sci 89:49–61
Google Scholar - Porte A, Stoeckel ME, Sacrez A, Batzenschlager A (1980) Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch [A] 386:43–58
Google Scholar - Rappaport L, Contard F, Samuel JL, Delcayre C, Marotte F, Tomé FMS, Fardeau M (1989) Storage of phosphorylated desmin in a familial myopathy. FEBS Lett 231:421–425
Google Scholar - Sacrez A, Porte A, Batzenschlager A, De Barsy T, Wolff F, Grison D, Stoeckel L, Ferrière P (1979) Myocardiopathie familiale. Étude de deux familles avec biopsies myocardique et musculaire. Arch Mal Coeur 72:786–792
Google Scholar - Sakakibara S, Sekiguchi M, Konno S, Kusumoto M (1970) Idiopathic postpartum cardiomyopathy: report of a case with special reference to its ultrastructural changes in the myocardium as studied by endomyocardial biopsy. Am Heart J 80:385–395
Google Scholar - Schröder JM, Sommer C, Schmidt B (1990) Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibres: immunocytochemical and fine structure studies, with a note on unusual 18 to 20 nm filaments. Acta Neuropathol 80:406–414
Google Scholar - Stoeckel ME, Osborn M, Porte A, Sacrez A, Batzenschlager A, Weber K (1981) An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch [A] 393:53–60
Google Scholar - Takatsu T, Kawai C, Tsutsumi J, Inoue K (1968) A case of idiopatic myocardiopathy with deposits of a peculiar substance in the myocardium; diagnosis by endomyocardial biopsy. Am Heart J 76:93–104
Google Scholar - Toussaint M, Planche C, Villain E, Kachaner J (1987) Restrictive cardiomyopathy in children. Ultrastructural findings. Virchows Arch [A] 412:27–29
Google Scholar - Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 76:4350–4354
Google Scholar - Wolburg H, Scholte W, Langhor HD, Peiffer J, Reiher KH, Heckel RW (1982) Slowly progressive congenital myopathy with cytoplasmic bodies. Clin Neuropathol 1:55–66
Google Scholar
Author information
Authors and Affiliations
- Department of Neuropediatrics, Bambino Gesu' Hospital, P.za S. Onofrio, 4, I-00165, Rome, Italy
E. Bertini - Department of Pathology, Bambino Gesu' Hospital, P.za S. Onofrio, 4, I-00165, Rome, Italy
R. Boldrini - Human Biopathology Department, University “La Sapienza”, Rome, Italy
C. Bosman - Neurological Institute, Catholic University and UILDM Sez. Laziale, Rome, Italy
E. Ricci, S. Servidei & M. Sabatelli - NRC Unit for Muscle Biology and Physiopathology c/o Institute of General Pathology, University of Padova, Padova, Italy
G. Salviati
Authors
- E. Bertini
You can also search for this author inPubMed Google Scholar - C. Bosman
You can also search for this author inPubMed Google Scholar - E. Ricci
You can also search for this author inPubMed Google Scholar - S. Servidei
You can also search for this author inPubMed Google Scholar - R. Boldrini
You can also search for this author inPubMed Google Scholar - M. Sabatelli
You can also search for this author inPubMed Google Scholar - G. Salviati
You can also search for this author inPubMed Google Scholar
Additional information
Supported by the National Ministry of Health (Ricerca corrente cod. 88/02/P/73B), UILDM sez. Laziale and Institutional funds of the Consiglio Nazionale delle Ricerche and Grant from MPI and MDA
Rights and permissions
About this article
Cite this article
Bertini, E., Bosman, C., Ricci, E. et al. Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.Acta Neuropathol 81, 632–640 (1991). https://doi.org/10.1007/BF00296373
- Received: 27 August 1990
- Revised: 04 December 1990
- Accepted: 04 December 1990
- Issue Date: May 1991
- DOI: https://doi.org/10.1007/BF00296373