Summary
Fifteen cases of mitochondrial myopathy, three cases of hereditary motor and sensory neuropathy (HMSN) VI, and 280 cases of neuropathies of different etiologies were examined by electron microscopy for the presence of mitochondrial abnormalities in the sural nerve. Altered mitochondria were found in most cases of mitochondrial myopathy, in all cases of HMSN VI, and in 25 cases out of the series of unselected neuropathies. The mitochondrial changes comprised enlargement with an amorphous matrix and distorted cristae, with hexagonal paracrystalline inclusions, and with prominent cristae containing oblique striations, and a variety of rare changes. Most mitochondrial abnormalities were found in Schwann cells. An increase of the number of mitochondria was noted in smooth muscle and endothelial cells of epineurial arterioles of two cases with mitochondrial encephalomyopathy. Neuropathy was present in all cases of mitochondrial myopathy according to morphometrical analysis. Whether neuropathy is caused directly by mitochondrial dysfunction or by other pathogenetic mechanisms remains to be determined.
Similar content being viewed by others
References
Atsumi T, Yamamura Y, Sato T, Ikuta F (1980) Hirano bodies in the axon of peripheral nerves in a case with progressive external ophthalmoplegia with multisystemic involvement. Acta Neuropathol (Berl) 49:95–100
Bastiaensen LAK, Joosten EMG, De Rooij JAM, Hommes OR, Stadhouders AM, Jaspar HHJ, Veerkamp JH, Bookelman H, van Hinsberg UWM (1978) Ophthalmoplegia plus, a real nosological entity. Acta Neurol Scand 58:9–34
Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, Rowland LP (1977) Lumping or splitting? “Ophthalmoplegia plus” or Kearns-Sayre syndrome? Ann Neurol 1:37–54
Croft PB, Cutting JC, Jewesbury ECO, Blackwood W, Mair WPG (1977) Ocular myopathy (progressive external ophthalmoplegia) with neuropathic complications. Acta Neurol Scand 55:169–197
Drachmann DA (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18:654–674
Fardeau M, Engel KW (1969) Ultrastructural study of a peripheral nerve biopsy in Refsum's disease. J Neuropathol Exp Neurol 28:276–294
Gemigniani F, Juvarra G, Marbini A, Calzetti S, Bragaglia MM, Govoni E (1982) Polyneuropathy in progressive external ophthalmoplegia. Eur Neurol 21:181–188
Goebel HH, Bardosi A, Friede RL (1986) Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy. Muscle Nerve 9:165–173
Goebel HH, Schmidt PF, Bohl J, Tettenborn B, Krämer G, Gutmann L (1990) Polyneuropathy due to acute arsenic intoxication: biopsy studies. J Neuropathol Exp Neurol 49: 137–149
Hall JD, Crane FL (1971) Intracristal rods. J Cell Biol 48: 420–425
Hanzlíková V, Schiaffino S (1977) Mitochondrial changes in ischemic skeletal muscle. J Ultrastruct Res 60:121–133
Heine H, Schaeg G (1979) Origin and function of “rod-like structures” in mitochondria. Acta Anat (Basel) 103:1–10
Lyon G, Evrard P (1970) Sur la présence d'inclusions cristallines dans les cellules de Schwann dans divers neuropathies périphériques. C R Acad Sci (Paris) 271:1000–1002
Markesbery WR (1979) Lactic acidemia, mitochondrial myopathy and basal ganglia calcification. Neurology 29: 1057–1061
Mitsumoto H, Aprille JR, Wray SH, Nemni R, Bradley WG (1983) Chronic progressive external ophthalmoplegia (CPEO): clinical, morphological and biochemical studies. Neurology 33:452–461
Morgan-Hughes JA (1986) Mitochondrial myopathies. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1709–1743
Nikoskelainen E (1984) New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease. Neurology 34: 1482–1484
Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 74:226–233
Okamura K, Santa T, Nagae K, Omae T (1976) Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J Neurol Sci 27:79–91
Parker WD Jr, Oley CA, Parks JK (1989) A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med 320:13331–13333
Peyronnard JM, Charron L, Bellavance A (1980) Neuropathy and mitochondrial myopathy. Ann Neurol 7:262–268
Pezeshkpour G, Krarup C, Buchthal F, DiMauro S, Bresolin N, McBurney J (1987) Peripheral neuropathy in mitochondrial disease. J Neurol Sci 77:285–304
Sakuta R, Nonaka I (1989) Vascular involvement in mitochondrial myopathy. Ann Neurol 25:594–601
Schneck L, Adachi M, Briet P, Wolintz A, Volk BW (1973) Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue. J Neurol Sci 19:37–44
Schröder JM, Krämer KG, Hopf HC (1985) Granular nuclear inclusion body disease: fine structure of tibial muscle and sural nerve. Muscle Nerve 8:52–59
Sommer C, Schröder JM (1989) Hereditary motor and sensory neuropathy with optic atrophy. Arch Neurol 46:973–977
Wallace DC, Zheng X, Lott MT, Schoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell 55:601–610
Wallace DC, Gurparkash S, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas II LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427–1430
Yiannikas C, McLeod JG, Pollard JD, Baverstock J (1985) Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 20:249–257
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schröder, J.M., Sommer, C. Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature. Acta Neuropathol 82, 471–482 (1991). https://doi.org/10.1007/BF00293381
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00293381