Skip to main content

Spongiöse Dystrophien und mitochondriale Enzephalopathien

  • Chapter
Neuropathologie
  • 127 Accesses

Zusammenfassung

Unter Spongiose versteht man eine lichtmikroskopisch erkennbare vakuoläre Auflockerung der grauen oder weißen Substanz des Zentralnervensystems. Es handelt sich dabei um eine sehr weit verbreitete Reaktionsform des Gewebes unterschiedlicher Pathogenese, die bei zahlreichen degenerativen, metabolischen, toxischen und traumatischen Läsionen beobachtet werden kann.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Agapitos E, Pavlopoulos P M, Patsouris E, Davaris P (1997) Subacute necrotizing encephalomyelopathy (Leigh’s disease): a clinicopathologic study of ten cases. Gen Diagn Pathol 142: 335–341

    PubMed  CAS  Google Scholar 

  • Albrecht J, Jones E A (1999) Hepatic encephalopathy: molecular mechanisms underlying the clinical syndrome. J Neurol Sci 170: 138–146

    Article  PubMed  CAS  Google Scholar 

  • Altmann H W (1972) Glycogenhaltige Karyosphäriden in Gliakernen bei hepatogener Encephalopathie. Virchows Arch Cell Pathol 11: 263–267

    CAS  Google Scholar 

  • Bardosi A, Creutzfeldt W, DiMauro S et al. (1987) Myo-,neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74: 248–258

    Article  PubMed  CAS  Google Scholar 

  • Baslow M H, Suckow R F, Sapirstein V, Hungund B L (1999) Expression of aspartoacylase activity in cultured rat macroglial cells is limited to oligodendrocytes. J Mol Neurosci 13: 47–53

    Article  PubMed  CAS  Google Scholar 

  • Berkovic S F, Carpenter S, Evans A et al. (1989) Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112: 1231–1260

    Article  PubMed  Google Scholar 

  • Bleggi-Torres L F, de Medeiros B C, Werner B et al. (2000) Neuropathological findings after bone marrow transplantation: an autopsy study of 180 cases. Bone Marrow Transplant 25: 301–307

    Article  PubMed  CAS  Google Scholar 

  • Burn D J, Bates D (1998) Neurology and the kidney. J Neurol Neurosurg Psychiatry 65: 810–821

    Article  PubMed  CAS  Google Scholar 

  • Castro-Gago M, Gonzalez-Conde V, Fernandez-Seara M J, (1999) Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases. Rev Neurol 29: 912– 917

    Google Scholar 

  • Chinnery P F, Howell N, Lightowlers R N, Turnbull D M (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120: 1713–1721

    Article  PubMed  Google Scholar 

  • Chu C C, Huang C C, Fang W, Chu N S, Pang CY, Wei Y H (1997) Peripheral neuropathy in mitochondrial encephalomyopathies. Eur Neurol 37: 110–115

    Article  PubMed  CAS  Google Scholar 

  • Diemer N K, Klee J, Schröder H, Klinken L (1977) Glial and nerve cell changes in rats with portocaval anastomosis. Acta Neuropathol 39: 59–68

    Article  PubMed  CAS  Google Scholar 

  • DiMauro S (2000) Mitochondrial encephalomyopathies (symposium). Brain Pathol 10: 419–472

    Article  PubMed  CAS  Google Scholar 

  • Elpeleg O N, Shaag A (1999) The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inherit Metab Dis 22: 531–534

    Article  PubMed  CAS  Google Scholar 

  • Erbslöh F (1958) Funikuläre Spinalerkrankung. In: Scholz W, Lubarsch O, Henke F, Rössle R (Hrsg) Handbuch der speziellen pathologischen Anatomie und Histologie. Bd XIII/ 2B, Springer, Berlin Göttingen Heidelberg, S 1526–1601

    Google Scholar 

  • Farkas G, Marton J, Nagy Z et al. (1998) Experimental acute pancreatitis results in increased blood-brain barrier permeability in the rat: a potential role for tumor necrosis factor and interleukin 6. Neurosci Lett 242: 147–150

    Article  PubMed  CAS  Google Scholar 

  • Gambetti P, Mellman W J, Gonatas N K (1969) Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease). An ultrastructural study. Acta Neuropathol 12: 103–115

    Article  PubMed  CAS  Google Scholar 

  • Gascon G G, Ozand P T, Mahdi A et al. (1990) Infantile CNS spongy degeneration — 14 cases: clinical update. Neurology 40: 1876–1882

    PubMed  CAS  Google Scholar 

  • Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651–653

    Article  PubMed  CAS  Google Scholar 

  • Goto Y, Horai S, Matsuoka T et al. (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. A correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42: 545–550

    PubMed  CAS  Google Scholar 

  • Haltia M, Suomalainen A, Majander A, Somer H (1992) Disorders associated with multiple deletions of mitochondrial DNA. Brain Pathol 2: 133–139

    Article  PubMed  CAS  Google Scholar 

  • Harding B N (1990) Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review. J Child Neurol 5: 273–287

    Article  PubMed  CAS  Google Scholar 

  • Hazell A S, Butterworth R F (1999) Hepatic encephalopathy: An update of pathophysiologic mechanisms. Proc Soc Exp Biol Med 222: 99–112

    Article  PubMed  CAS  Google Scholar 

  • Jellinger K, Seitelberger F (1977) Spongy encephalopathies in infancy: spongy degeneration of CNS and progressive infantile poliodystrophy. In: Goldensohn ES, Appel SH (eds) Scientific approaches to clinical neurology. Lea & Febiger, Philadelphia, pp 363–386

    Google Scholar 

  • Kageyama Y, Ichikawa K, Fujioka A et al. (1991) An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. Acta Neuropathol 83: 99–103

    Article  PubMed  CAS  Google Scholar 

  • Kaul R, Gao G P, Aloya M et al. (1994) Canavan disease: mutations among Jewish and non-jewish patients. Am J Hum Genet 55: 34–41

    PubMed  CAS  Google Scholar 

  • Kimura T, Budka H (1986) Glial fibrillary acidic protein and S-100 protein in human hepatic encephalopathy: immunocytochemical demonstration of dissociation of two glia-associated proteins. Acta Neuropathol 70: 17–21

    Article  PubMed  CAS  Google Scholar 

  • Makino M, Horai S, Goto Y, Nonaka I (1998) Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh’s syndrome. Neuromuscul Disord 8: 149–151

    Article  PubMed  CAS  Google Scholar 

  • Manuelidis E E, Rorke L B (1989) Transmission of Alper’s disease (chronic progressive encephalopathy) produces experimental Creutzfeldt-Jakob disease in hamsters. Neurology 39: 615–621

    PubMed  CAS  Google Scholar 

  • Martinez A J (1998) The neuropathology of organ transplantation: comparison and contrast in 500 patients. Pathol Res Pract 194: 473–486

    PubMed  CAS  Google Scholar 

  • Masters C L, Richardson E P Jr (1978) Subacute spongiform encephalopathy (Creutzfeldt-Jakob disease). The nature and progression of spongiform change. Brain 101: 333–344

    Article  PubMed  CAS  Google Scholar 

  • Matalon R, Michals K, Sebesta D et al. (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29: 463–471

    Article  PubMed  CAS  Google Scholar 

  • McShane M A, Hammans S R, Sweeney M et al. (1991) Pearson syndrome and mitochondrial encephalomyopathy in a patient with deletion of mtDNA. Am J Hum Genet 48: 39–42

    PubMed  CAS  Google Scholar 

  • Mohrmann R L, Mah V, Vinters H V (1990) Neuropathologic findings after bone marrow transplantation: an autopsy study. Hum Pathol 21: 630–639

    Article  PubMed  CAS  Google Scholar 

  • Naito E, Ito M, Yokota I et al. (1997) Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. J Inherit Metab Dis 20: 539–548

    Article  PubMed  CAS  Google Scholar 

  • Naviaux R K, Nyhan W L, Barshop B A et al. (1999) Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers’ syndrome. Ann Neurol 45: 54–8

    Article  PubMed  CAS  Google Scholar 

  • Nishino I, Spinazzola A, Hirano M (1999) Thymidine Phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689–692

    Article  PubMed  CAS  Google Scholar 

  • Ohama E, Ikuta F (1987) Involvement of choroid plexus in mitochondrial encephalomyopathy ( MELAS ). Acta Neuropathol 75: 1–7

    Article  PubMed  CAS  Google Scholar 

  • Ohama E, Ohara S, Ikuta F et al. (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol 74: 226–233

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Oldfors A, Fyhr I M, Holme E, Larsson N G, Tulinius M (1990) Neuropathology in Kearns-Sayre syndrome. Acta Neuropathol 80: 541–546

    Article  PubMed  CAS  Google Scholar 

  • Papadopoulou L C, Sue C M, Davidson M M et al. (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 23: 333–337

    Article  PubMed  CAS  Google Scholar 

  • Paulus W, Peiffer J (1990) Intracerebral distribution of mitochondrial abnormalities in 21 cases of infantile spongy dystrophy. J Neurol Sci 95: 49–62

    Article  PubMed  CAS  Google Scholar 

  • Peiffer J, Kustermann-Kuhn B, Mortier W et al. (1988) Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type. Pathol Res Pract 183: 706–716

    PubMed  CAS  Google Scholar 

  • Porteous W K, James A M, Sheard P W et al. (1998) Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 257: 192–201

    Article  PubMed  CAS  Google Scholar 

  • Reusche E, Koch V, Friedrich H J, Nunninghoff D, Stein P, Rob P M (1996) Correlation of drug-related aluminum intake and dialysis treatment with deposition of argyrophilic aluminum-containing inclusions in CNS and in organ systems of patients with dialysis-associated encephalopathy. Clin Neuropathol 15: 342–347

    PubMed  CAS  Google Scholar 

  • Scalabrino G (2001) Subacute combined degeneration one century later. The neurotrophic action of cobalamin (vitamin B12) revisited. J Neuropathol Exp Neurol 60: 109–120

    PubMed  CAS  Google Scholar 

  • Schachenmayr W (1987) Pankreatitis-assoziierte Hirnbefunde: gibt es eine pankreatische Encephalopathie? Verh Dtsch Ges Pathol 71: 280–283

    PubMed  CAS  Google Scholar 

  • Scholtz C L, Swash M, Gray A, Kogeorgos J, Marsh F (1987) Neurofibrillary neuronal degeneration in dialysis dementia: a feature of aluminium toxicity. Clin Neuropathol 6: 93–97

    PubMed  CAS  Google Scholar 

  • Schwechheimer K, Hashemian A (1995) Neuropathologic findings after organ transplantation. An autopsy study. Gen Diagn Pathol 141: 35–39

    PubMed  CAS  Google Scholar 

  • Shoffner J M, Lott M T, Lezza A M S et al. (1990) Myoclonic epilepsy and ragged-red fiber disease ( MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61: 931–937

    Article  PubMed  CAS  Google Scholar 

  • Sparaco M, Bonilla E, DiMauro S, Powers J M (1993) Neuro-pathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 52: 1–10

    Article  PubMed  CAS  Google Scholar 

  • Takeda S, Wakabayashi K, Ohama E, Ikuta F (1988) Neuro-pathology of myoclonus epilepsy associated with ragged- red fibers ( Fukuhara’s disease ). Acta Neuropathol 75: 433–440

    Article  PubMed  CAS  Google Scholar 

  • Tanahashi C, Nakayama A, Yoshida M, Ito M, Mori N, Hashizume Y (2000) MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study. Acta Neuropathol 99: 31–38

    Article  PubMed  CAS  Google Scholar 

  • Tiranti V, Jaksch M, Hofmann S et al. (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46: 161–166

    Article  PubMed  CAS  Google Scholar 

  • Tredici G, Buccellato F R, Cavaletti G, Scalabrino G (1998) Subacute combined degeneration in totally gastrectomized rats: an ultrastructural study. J Submicrosc Cytol Pathol 30: 165–173

    PubMed  CAS  Google Scholar 

  • Van Erven P M M, Cillessen J P M, Eekhoff E M W et al. (1987) Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg 89: 217–230

    Article  PubMed  Google Scholar 

  • Watanabe A, Shiota T, Tsuji T (1992) Cerebral edema during hepatic encephalopathy in fulminant hepatic failure. J Med 23: 29–38

    PubMed  CAS  Google Scholar 

  • Winkelman M D, Ricanati E S (1986) Dialysis encephalopathy: neuropathological aspects. Hum Pathol 17: 823–833

    Article  PubMed  CAS  Google Scholar 

  • Wittsack H J, Kugel H, Roth B, Heindel W (1996) Quantitative measurements with localized 1H MR spectroscopy in children with Canavan’s disease. J Magn Reson Imaging 6: 889–893

    Article  PubMed  CAS  Google Scholar 

  • Zafeiriou D I, Kleijer W J, Maroupoulos G et al. (1999) Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. Brain Dev 21: 205–208

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2002 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Paulus, W. (2002). Spongiöse Dystrophien und mitochondriale Enzephalopathien. In: Peiffer, J., Schröder, J.M., Paulus, W. (eds) Neuropathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59371-0_20

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-59371-0_20

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-63951-7

  • Online ISBN: 978-3-642-59371-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics