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Metabolic Brain Disease

, Volume 20, Issue 1, pp 81–86 | Cite as

Cerebrospinal Fluid Neurone-Specific Enolase in Mitochondrial Encephalomyopathies

  • Josef Finsterer
  • Markus Exner
  • Helmut Rumpold
Article

Abstract

Whether cerebrospinal fluid (CSF) neurone-specific enolase (NSE) contributes to the diagnosis of mitochondrial encephalomyopathies (MEMs) is unknown. Aim of the present study was thus to assess the validity of CSF-NSE in the diagnosis of MEM. CSF-NSE was determined in 24 controls, aged 28–88 years; and 23 MEM patients, aged 47–81 years. In controls, CSF-NSE was independent of sex (p = 0.849) and age (p = 0.346). Twenty-one MEM patients had clinical CNS involvement and two CNS abnormalities on imaging investigations exclusively. CSF cells were increased in 7, CSF protein in 17, CSF glucose in 1, and CSF lactate in 2 MEM patients. The upper reference limit of CSF-NSE was 14.66 ng/mL. CSF-NSE was elevated in 6 (26%) MEM patients. CSF-NSE was increased in a single MEM patient with subclinical CNS involvement. This study shows that CSF-NSE is elevated in only one quarter of the MEM patients. Determination of CSF-NSE appears to be of minor importance for the assessment of clinical or subclinical CNS involvement in MEM.

Keywords

Glycolysis neuronal and glial damage lumbar puncture mitochondriopathy respiratory chain 

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References

  1. Aksamit, A.J., Jr., Preissner, C.M., and Homburger, H.A. (2001). Quantitation of 14-3-3 and neuron-specific enolase proteins in CSF in Creutzfeldt-Jakob disease. Neurology 57:728–730.PubMedGoogle Scholar
  2. Beaudry, P., Cohen, P., Brandel, J.P., Delasnerie-Laupretre, N., Richard, S., Launay, J.M., and Laplanche, J.L. (1999). 14-3-3 Protein, neuron-specific enolase, and S-100 protein in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Dement. Geriatr. Cogn. Disord. 10:40–46.CrossRefPubMedGoogle Scholar
  3. Beems, T., Simons, K.S., Van Geel, W.J., De Reus, H.P., Vos, P.E., and Verbeek, M.M. (2003). Serum- and CSF-concentrations of brain specific proteins in hydrocephalus. Acta Neurochir. (Wien) 145:37–43.CrossRefGoogle Scholar
  4. Brockmann, K., Bjornstad, A., Dechent, P., Korenke, C.G., Smeitink, J., Trijbels, J.M., Athanassopoulos, S., Villagran, R., Skjeldal, O.H., Wilichowski, E., Frahm, J., and Hanefeld, F. (2002). Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann. Neurol. 52:38–46.CrossRefPubMedGoogle Scholar
  5. Finsterer, J. (2004). Mitochondriopathies. Eur. J. Neurol. 11:163–186.CrossRefPubMedGoogle Scholar
  6. Finsterer, J. (2001). Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy. Acta Med. Aust. 28:152–55.CrossRefGoogle Scholar
  7. Finsterer, J. (2001). Visually evoked potentials in respiratory chain disorders. Acta Neurol. Scand. 104:31–35.CrossRefPubMedGoogle Scholar
  8. Leonard, J.V., and Schapira, A.H.V. (2000). Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects. Lancet 355:299–304.CrossRefPubMedGoogle Scholar
  9. Martinez-Fernandez, E., Gil-Peralta, A., Garcia-Lozano, R., Chinchon, I., Aguilera, I., Fernandez-Lopez, O., Arenas, J., Campos, Y., and Bautista, J. (2001). Mitochondrial disease and stroke. Stroke 32:2507–2510.PubMedGoogle Scholar
  10. Musumeci, O., Naini, A., Slonim, A.E., Skavin, N., Hadjigeorgiou, G.L., Krawiecki, N., Weissman, B.M., Tsao, C.Y., Mendell, J.R., Shanske, S., De Vivo, D.C., Hirano, M., and DiMauro, S. (2001). Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 56:849–855.PubMedGoogle Scholar
  11. Ohkoshi, N., Ishii, A., Shiraiwa, N., Shoji, S., and Yoshizawa, K. (1998). Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. J. Med. 29:13–29.PubMedGoogle Scholar
  12. Ohno, K., Isotani, E., and Hirakawa, K. (1997). MELAS presenting as migraine complicated by stroke: Case report. Neuroradiology 39:781–784.CrossRefPubMedGoogle Scholar
  13. Osterlundh, G., Bjure, J., Lannering, B., Kjellmer, I., Uvebrant, P., and Marky, I. (1999). Regional cerebral blood flow and neuron-specific enolase in cerebrospinal fluid in children with acute lymphoblastic leukemia during induction treatment. J. Pediatr. Hematol. Oncol. 21:378–383.CrossRefPubMedGoogle Scholar
  14. Pleines, U.E., Morganti-Kossmann, M.C., Rancan, M., Joller, H., Trentz, O., and Kossmann, T. (2001). S-100 beta reflects the extent of injury and outcome, whereas neuronal specific enolase is a better indicator of neuroinflammation in patients with severe traumatic brain injury. J. Neurotrauma 18:491–498.CrossRefPubMedGoogle Scholar
  15. Steinhoff, B.J., Tumani, H., Otto, M., Mursch, K., Wiltfang, J., Herrendorf, G., Bittermann, H.J., Felgenhauer, K., Paulus, W., and Markakis, E. (1999). Cisternal S100 protein and neuron-specific enolase are elevated and site-specific markers in intractable temporal lobe epilepsy. Epilepsy Res. 36:75–82.CrossRefPubMedGoogle Scholar
  16. Studahl, M., Rosengren, L., Gunther, G., and Hagberg, L. (2000). Difference in pathogenesis between herpes simplex virus type 1 encephalitis and tick-borne encephalitis demonstrated by means of cerebrospinal fluid markers of glial and neuronal destruction. J. Neurol. 247:636–642.CrossRefPubMedGoogle Scholar
  17. Thornberg, E., Thiringer, K., Hagberg, H., and Kjellmer, I. (1995). Neuron specific enolase in asphyxiated newborns: Association with encephalopathy and cerebral function monitor trace. Arch. Dis. Child. Fetal Neonatal. Ed. 72:F39–F42.PubMedGoogle Scholar
  18. Weinstock, A., Giglio, P., Cohen, M.E., Bakshi, R., Januario, J., and Balos, L. (2002). Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. J. Child. Neurol. 17:47–49.PubMedGoogle Scholar
  19. Younes-Mhenni, S., Thobois, S., Streichenberger, N., Giraud, P., Mousson-de-Camaret, B., Montelescaut, M.E., Broussolle, E., and Chazot, G. (2002). Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications. Rev. Med. Int. 23:1027–1029.Google Scholar

Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Josef Finsterer
    • 1
    • 3
  • Markus Exner
    • 2
  • Helmut Rumpold
    • 2
  1. 1.Department of NeurologyKrankenanstalt RudolfstiftungViennaAustria
  2. 2.Clinical Institute for Medical and Chemical Laboratory DiagnosticsUniversity of ViennaViennaAustria
  3. 3.ViennaAustria

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