Abstract
We performed electroencephalography (EEG) and multimodal evoked potential (EP) studies in 16 patients with various forms of mitochondrial encephalomyopathy (ME). The electrophysiological investigations revealed signs of involvement of the peripheral and central nervous system (CNS) in 14 patients, with a high incidence of visual-EP (VEP) alterations, indicative of visual pathway vulnerability in mitochondrial diseases. No specific pattern of abnormalities emerged and, in particular, clinical and laboratory findings did not correlate with each other. EP (particularly VEP and electroretinogram) investigations should be part of the diagnostic work-up of patients with mitochondrial disorders in order to better characterize the clinical picture, disclose involvement of specific sensory systems of the CNS, and assess patients with atypical clinical presentations.
Sommario
Uno studio neurofisiologico (elettroencefalogramma, potenziali evocati multimodali) è stato effettuato in un gruppo di 16 pazienti affetti da encefalopatia mitocondriale. I risultati neurofisiologici hanno permesso di evidenziare anomalie funzionali a carico del sistema nervoso periferico e centrale in 14 dei pazienti esaminati, con una più alta incidenza di alterazioni allo studio dei potenizali evocati visivi, quesai ultimi esprimendo una particolare vulnerabilita della via ottica centrale in questa categoria di malattie neuromuscolari. Non è stato tuttavia identificato uno specifico pattern di alterazione neurofisiologica e non è stata riscontrata nessuna correlazione tra i dati laboratoristici, genetici e le alterazioni funzionali. Sulla base dei dati da not ottenuti emerge come to studio neurofisiologico, e dei potenziali evocati visivi in particolare, debba essere inserito in un protocollo di studio di pazienti sospetti per malattia mitocondriale, in particolare per le forme con più atipica presentazione clinica.
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References
DiMauro S, Moraes CT (1993) Mitochondrial encephalopathies. Arch Neurol 40:1197–1208
Zeviani M, Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2:121–132
Zeviani M, Servidei S, Gellera C et al (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339:309–31
Pavlakis SG, Philips PC, DiMauro S et al (1984) Mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol 16:481–488
Wallace DC, Zeng X, Lott MT et al (1988) Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell 55:601–610
Neuromuscular disorders: Gene location, mitochondrial encephalomyopathies, gene mutation. Neuromuscul Disord 5:V–VI
Moraes CT, DiMauro S, Zeviani M et al (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearn-Sayre syndrome. N Engl J Med 320:1293–1299
Zeviani M, Moraes CT, DiMauro S et al (1988) Deletion of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339–1346
Zeviani M, Bresolin N, Gellera C et al (1990) Nucleous driven multiple large-scale deletions of the human mitochondrial genome: A new auosomal dominant disease. Am J Hum Genet 47:904–914
Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathy. Nature 348:653
Shoffer JM, Lott MT, Lezza AMS et al (1990) Myoclonus epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA Lys mutation. Cell 61:931–937
Seibel P, Degoul F, Bonne G et al (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci 105:217–224
Darley-Usmar VM, Watanabe M, Uchiyama Y et al (1986) Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinoal-cytochrome c reductase. Clin Chim Acta 1158:253–261
Zeviani M, Amati P, Bresolin N et al (1991) Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged red fibers (MERRF). Am J Hum Genet 48:203–211
Zeviani M, Gellera C, Antozzi C et al (1991) Maternally inherited myopathy and cardiomyopathy: Association with mutation in mitochondrial DNA tRNA Leu(UUR). Lancet 338:143–147
Papakostopoulos D (1982) Clinical electrophysiology of the human visual system in children. In: Chiarenza GA, Papakostopoulos D (eds) Clinical application of cerebral evoked potentials in pediatric medicine. Excerpta Medica, Amsterdam, pp 115–142
Dubowitz V (1985) Muscle biopsy: A practical approach, 2nd edn. Balliere Tindal, London
Smith SJ, Herding AE (1993) EEG and evoked potentials findings in mitochondrial myopathies. J Neurol 240:367–372
Harden A, Pampiglione G, Battaglia A (1982) Mitochondrial myopathy or mitochondrial disease? EEG, ERG and VEP studies in 13 children. J Neurol Neurosurg Psychiatry 45:627–632
Tartara A, Manni R, Scelsi R et al (1983) Electroencephalography findings in patients with chronic progressive external ophthalmoplegia. Ital J Neurol Sci 4:459–462
So N, Barkovic S, Andermann F et al (1989) Myoclonus epilepsy and ragged-red fibers (MERRF) 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain 112:1261–1276
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C (1996) Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev 18(3):185–191
Tsuji S, Uozumi T, Nakano S et al (1990) Evoked potential studies in mitochondrial encephalomyopathy. Arch Neurol 47:465–467
Berkovic SF, Carpenter S, Evans A et al (1989) Myoclonus epilepsy and ragged red fibers (MERRF) 1. A clinical, pathophysiological, biochemical, magnetic resonance spectro graphic and positron emission tomography study. Brain 112:1231–1260
Yiannikas C, McLoad JC, Pollard JD et al (1986) Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 20:249–257
Sartucci F, Rossi B, Tognoni G et al (1993) Evoked potentials in the evaluation of patients with mitochondrial myopathy. Eur Neurol 33:428–435
Rigaudiere F, Manderieux N, LeGargasson JF, Guez JE, Grall Y (1995) Electrophysiological exploration of visual function in mitochondrial diseases. Electroencephalogr Clin Neurophysiol 96(6):495–501
Berson EL, Gouras P, Gunkel RD (1968) Rod responses in retinitis pigmentosa, dominant inherited. Arch Ophthalmol 80:58–67
Krauss GL, Johnson MA, Miller NR (1998) Vigabatrin-associated retinal cone system dysfunction. Electroretinogram and ophthalmological findings. Neurology 50:614–618
Sherman J (1986) ERG and VEP as supplemental aids in the differential diagnosis of retinal versus optic nerve disease. In: Cracco RG, Bodis-Wollner I (eds) Evoked potentials. Alan R Liss, pp 343–353
Ohara S, Ohama E, Takahashi H et al (1988) Alterations of oligodendrocytes and demyelination in the spinal cord of patients with mitochondrial encephalomyopathy. J Neurol Sci 86:19–29
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Scaioli, V., Antozzi, C., Villani, F. et al. Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy. Ital J Neuro Sci 19, 291–300 (1998). https://doi.org/10.1007/BF00713855
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DOI: https://doi.org/10.1007/BF00713855