Summary
Mitochondrial abnormalities are reported in some type I fibers, characterized by their oxydative hyperactivity and increased amount of blood vessels. These changes, generally described in “ocular myopathy” are here observed in an adult pelvic dystrophy associated with bilateral ptosis and pharyngeal impairment, without external ophthalmoplegia. A pathogenic approach, in connection with mitochondrial inclusions, is proposed.
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Adachi, M., Torii, J., Volk, B. W., Briet, P., Wolintz, A., Schneck, L.: Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar Ataxia. Acta neuropath. (Berl.)23, 300–312 (1973)
Afifi, A. K., Ibrahim, M. Z., Bergman, R. A., Haydar, N. A., Mire, J., Banuth, N., Kaylani, F.: Morphologic features of hypermetabolic mitochondrial disease. J. neurol. Sci.15, 271–290 (1972)
Barbeau, A.: The syndrome of hereditary late onset ptosis and dysphagia in french Canada. Symposium über progressive Muskeldystrophie, pp. 102–109. Berlin: Springer 1966
Bray, G. M., Kaarsoo, M., Ross, R. T.: Ocular myopathy with dysphagia. Neurology (Minneap.)15, 678–684 (1965)
Bressler, R.: Fatty acid oxydation. In: Comprehensive biochemistry. M., Forkin, E. H. Stotz, (eds.) vol. 18, pp. 331–359. Amsterdam: Elsevier 1970
Buscaino, G. A., de Giacomo, P., Perniola, T., Labianca, O.: Su due casi di miopatia mitochondriale: Aspetti clinici, istologici, istochemici. Bell. Soc. ital. Biol. sper.45, 221–224 (1969)
Castaigne, P., Laplane, D., Fardeau, M., Dordain, G., Autret, A., Hirt, L.: Myopathie avec anomalies mitochondriales localisées aux fibres de type I. Documents cliniques, histochimiques et ultrastructuraux concernant une forme atrophique diffuse à début oculaire. Rev. neurol.126, 81–86 (1972)
Chou, S. M.: “Megaconial” mitochondria observed in a case of chronic polymyositis. Acta neuropath. (Berl.)12, 68–89 (1969)
Coleman, R. F., Nienhuis, A. W., Brown, W. J., Munsat, T. L., Pearson, C. M.: New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration. J. Amer. med. Ass.199, 624–630 (1967)
D'Agostino, A. N., Ziter, A., Rallison, M. L., Bray, P. F.: Familial myopathy with abnormal muscle mitochondria. Arch. Neurol. (Chic.)18, 388–401 (1968)
Daroff, R. B.: Chronic progressive external ophthalmoplegia. A critical review. Arch. Ophthal.82, 845–850 (1969)
Di Mauro, S., Schotland, D. S., Bonilla, E., Lee, C. P., Gambetti, P., Rowland, L. P.: Progressive ophthalmoplegia, glycogen storage and abnormal mitochondria. Arch. Neurol. (Chic.)29, 170–179 (1973)
Drachman, D. D.: Ophthalmoplegia plus: The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch. Neurol. (Chic.)18, 657–674 (1968)
Engel, W. K.: “Ragged-red-fibers” in ophthalmoplegia syndromes and their differential diagnosis. Abstracts of 2nd Int. Congress on muscle diseases (Perth. Nov. 1971) International congress series no 237, p. 28, Excerpta med. (Amst.) (1972)
Fardeau, M.: Ultrastructural lesions in progressive muscular dystrophy. A critical study of their specificity. Proceedings of the international congress on muscle diseases, Milan 1969, pp. 98–108. Excerpta med. Amst. 1970
Fisher, E. R., Danowski, T. S.: Mitochondrial myopathy. Amer. J. clin. Path.51, 619–630 (1969)
Gruner, J. E.: Sur quelques anomalies mitochondriales observées au cours d'affections musculaires variées. C. R. Soc. Biol. (Paris)157, 181–182 (1963)
Haydar, N. A., Conn, H. L., Afifi, A., Wakid, N., Ballas, S., Fawaz, K.: Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria. Functional and therapeutic effects of chloramphenicol treatment. Ann. intern. Med.74, 548–559 (1971)
Hugues, A. M., Mair, W. G. P.: Atypical muscle mitochondria in oculoskeletal myopathy. Brain.96, 215–224 (1973)
Hulsman, W. P., Bethlem, J., Meijer, A. E., Fleury, P., Schellens, J. P.: Myopathy with abnormal structure and fonction of muscle mitochondria. J. Neurol. Neurosurg. Psychiat.30, 519–525 (1967)
Karpati, G., Carpentier, S., Larbrisseau, A., Lafontaine, R.: The Kearn-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. J. neurol. Sci.19, 133–151 (1973)
Kearns, T. P.: External ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy: A newly recognized syndrome. Trans. Amer. ophthal. Soc.63, 559–625 (1965)
Kearns, T. P., Sayre, G. P.: Retinis pigmentosa, external ophthalmoplegia and complete heart block: Unusual syndrome with biologic study in one of two cases. Arch. Ophthal.60, 280–289 (1958)
Kiloh, L. G., Nevin, S.: Progressive dystrophy of the external ocular muscles (ocular myopathy) Brain74, 115–143 (1951)
Lee, F., Liversedge, A.: Descending ocular myopathy. Brain85, 701–709 (1962)
Luft, R., Ikkos, D., Palmieri, G., Ernster, L., Afzelius, B. A.: A case of severe hypermetabolism of non thyroïd origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical and morphological study. J. clin. Invest.41, 1776–1804 (1962)
Manigand, G., Lucsko, M., Deparis, M.: Les myopathies oculaires. Sem. Hôp. Paris.45, 2803–2808 (1969)
Matsunaga, M., Inokuchi, T., Ohnishi, A., Kuroiwa, Y.: Oculopharyngeal involvement in familial neurogenic muscular atrophy. J. Neurol. Neurosurg. Psychiat.36, 104–111 (1973)
Murphy, S. F., Drachman, D. B.: The oculopharyngeal syndrome. J. Amer. med. Ass.203, 1003–1008 (1968)
Nass, N. N., Nass, S., Afzelius, B. A.: The general occurence of mitochondrial DNA. Exp. Cell Res.37, 516–539 (1965)
Olson, W., Engel, W. K., Walsh, G. O., Einaugler, R.: Oculocraniosomatic neuromuscular disease with “Ragged-Red-Fibers”. Arch. Neurol. (Chic.)26, 193–211 (1972)
Price, H. M., Gordon, G. B., Munsat, T. L., Pearson, C. M.: Myopathy with atypical mitochondria in type I skeletal muscle fibers. A histochemical and ultrastructural study. J. Neuropath. exp. Neurol.26, 474–497 (1967)
Prineas, J., Ng, R. C.: Ultrastructural features of intercellular lipids in normal human muscle. Neurology (Minneap.)17, 1092–1098 (1967)
Roberts, A. H., Bamforth, J.: The pharynx and oesophagus in ocular muscular dystrophy. Neurology (Minneap.)18, 645–652 (1968)
Rosenberg, R., Schotland, D. L., Levelace, R. E., Rowland, L. P.: Progressive ophthalmoplegia. Arch. Neurol. (Chic.)19, 362–376 (1968)
Schellens, J. P., Ossentjuk, E.: Mitochondrial ultrastructure with crystalloïd inclusions in an unusual type of human myopathy. Virchows Arch., Abt. B, Zell path.4, 21–29 (1969)
Shibasaki, H., Santa, T., Kuroiwa, Y.: Late onset mitochondrial myopathy. J. neurol. Sci.18, 301–310 (1973)
Shy, G. M., Gonatas, M. K., Perez, M.: Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain89, 133–158 (1966)
Shy, G. M., Silberberg, A. H., Appel, S. H., Mishkin, M. M., Godfrey, E. H.: A generalized disorder of nervous system, skeletal muscle and heart ressembling Refsum's disease and Hurler's syndrome. Part. I: Clinical, pathological and biochemical characteristics. Amer. J. Med.42, 163–178 (1967)
Sluga, E., Monneron, A.: Über die Feinstruktur und Topochemie von Riesenmitochondrien und deren Einlagerungen bei Myopathien. Virchows Arch., Abt. A, path. Anat.350, 250–260 (1970)
Spiro, A. J., Prineas, J. W., Moore, C. L.: A new mitochondrial myopathy in a patient with salt crawing. Arch. Neurol. (Chic.)22, 259–269 (1970)
Swift, H., Wolstenholme, D. R.: Genetics of mitochondria and chloroplasts: Nucleics acids and the problem of biogenesis. Handbook of molecular cytology. Lima de Faria, 972, Neuburger and Tatum (eds.). Amsterdam: North Holland publ. Co. 1969
Vallat, J. M., Aubertin, J., Julien, J., Vital, Cl., Leng, B., Boget, J.-C.: A propos d'un cas de myopathie congénitale avex anomalies mitochondriales (Etude clinique et ultrastructurale). Sem. Hôp. Paris49, 2475–2482 (1973)
Van Wijngaarden, G. K.: Bethlem, J., Meijer, A. E., Hulsman, W. Ch., Feltkamp, C. A.: Skeletal muscle disease with abnormal mitochondria. Brain90, 577–592 (1967)
Victor, M., Hayes, R., Adams, R. D.: Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelid. New Engl. J. Med.267, 1267–1272 (1962)
Zintz, R.: Neue elektronmikroskopische Befunde bei der chronischen progressiven oculären Muskeldystrophie. Zbl. ges. Neurol. Psychiat.188, 112 (1967)
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Carrier, H., Garde, A., Tommasi, M. et al. Anomalies mitochondriales à répartition particulière observées au cours d'une dystrophie musculaire à début pelvien. Acta Neuropathol 30, 295–303 (1974). https://doi.org/10.1007/BF00697012
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DOI: https://doi.org/10.1007/BF00697012