Skip to main content

Genetische Stoffwechselerkrankungen mit neuropathologischer Bedeutung

  • Chapter
Pathologie
  • 87 Accesses

Zusammenfassung

Es ist unmöglich, in einem kurzen Beitrag alle beschriebenen, neurologisch oder neuropathologisch bedeutsamen Krankheiten mit gesicherter oder vermuteter genetischer Ursache zu berücksichtigen oder auch nur zu streifen. Vereinfachend gesagt, wirkt sich jede genetische Störung, soweit sie in den überregionalen Stoffwechsel eingreift (und das ist eher die Regel als die Ausnahme), auf das Nervensystem aus, ganz abgesehen von der großen Zahl genetischer Störungen, öie schon primär im Nervengewebe wichtige Stoffwechselschritte betreffen.

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 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
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.

References

  1. Adams JH, Duchen LW (eds) (1992) Greenfield’s neuropathology.5th ed. Arnold/Hodder & Stoughton, London

    Google Scholar 

  2. Baumann N, Federico A, Suzuki K (eds) (1991) Late onset neurometabolic genetic disorders. From clinical to molecular aspects of lysosomal and peroxisomal disease. Dev Neurosci 13: 185–376

    Article  Google Scholar 

  3. Cervós-Navarro J (1991) Pathologie des Nervensystems. Y.Degenerative und metabolische Erkrankungen. Redigiert von H. Berlet. Springer, Berlin Heidelberg New York Tokyo

    Google Scholar 

  4. Friede RL (1989) Developmental neuropathology, part 3: Metabolic diseases. Springer, Berlin Heidelberg New York Tokyo, pp 405–560

    Google Scholar 

  5. Hansen HG, Graucob E (1985) Hematologic cytology of storage diseases. Springer, Berlin Heidelberg New York Tokyo

    Book  Google Scholar 

  6. Janisch W, Schreiber D, Warzog R (1990) Neuropathologie – Pathomorphologie und Pathogenese neurologischer Krankheiten. Fischer, Stuttgart New York

    Google Scholar 

  7. Peiffer J (1984) Angeborene Stoffwechselkrankheiten. Neuropathologischer Teil. In: Remmele W, (Hrsg) Pathologie. Springer, Berlin Heidelberg New York Tokyo, S 479–533

    Google Scholar 

  8. Scriver CR, Beaudet AL, Sly WS, Valle D (eds) (1995) The metabolic basis of inherited disease. 7th ed. McGraw-Hill, New York (in press)

    Google Scholar 

  9. Tada K, Colombo JB, Desnick RJ (1987) Recent advances in inborn errors of metabolism. Enzyme 38: 7–327

    Google Scholar 

  10. Becker LE (1992) Lysosomes, peroxisomes and mitochondria: function and disorder. Am J Neuroradiol 13: 609–620

    PubMed  CAS  Google Scholar 

  11. Blennow G, Jaeken J, Wiklund LM (1991) Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 5 [SuppI375]: 14--20

    Article  Google Scholar 

  12. Breningstall GN (1990) Carnitine deficiency syndromes. Pediatr Neurol 6: 75–81

    Article  PubMed  CAS  Google Scholar 

  13. Bu X, Rotter JI (1991) X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 88: 8198–8202

    Article  PubMed  CAS  Google Scholar 

  14. Byrd DJ, Krohn HP, Winkler L, Steinborn C, Hadam M, Brodehl J, Hunneman DH (1989) Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr 148: 543–547

    Article  PubMed  CAS  Google Scholar 

  15. Carpenter S (1988) Morphological diagnosis and misdiagnosis in Batten-Kufs disease. Am J Med Genet [SuppI5]: 85–91

    Google Scholar 

  16. Ceuterick C, Martin JJ (1992) Electron microscopic features of skin in neurometabolic disorders. J Neurol Sci 112: 15–29

    Article  PubMed  CAS  Google Scholar 

  17. Dening TR, Berrios GE (1989) Wilson’s disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 46: 1126-1134

    Article  PubMed  CAS  Google Scholar 

  18. DeVivo DC, DiMauro S (1990) Mitochondrial defects of brain and muscle. Bioi Neonate 58 [Suppl1]: 54–69

    Article  Google Scholar 

  19. Goebel HH (1992) Neuronal ceroid-lipofuscinoses: The current status. Brain Dev 14: 203–211

    PubMed  CAS  Google Scholar 

  20. Hagberg B (1990) Polyneuropathies in paediatrics. Eur J Pediatr 149:296--305

    Article  PubMed  CAS  Google Scholar 

  21. Hale DE, Bennett MJ (1992) Fatty acid oxidation disorders: A new class of metabolic diseases. J Pediatr 121: 1–11

    Article  PubMed  CAS  Google Scholar 

  22. Harpey JP, Charpentier C, Paturneau-Jouas L (1990) Sudden infant death syndrome and inherited disordes of fatty acid β-oxidation. Bioi Neonate 58 [Suppll]: 70–80

    Article  Google Scholar 

  23. Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M (1989) Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr 149: 31–39

    Article  PubMed  CAS  Google Scholar 

  24. Hoffmann GF, Jakobs C, Rating D, Sweetman L, Trefz FK (1990) Prä- und postnatale Diagnostik der Organoazidopathien. Monatsschr Kinderheilkd 138: 381–388

    PubMed  CAS  Google Scholar 

  25. Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kaufmann M, Schweiger M (1989) Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet 83: 339–346

    Article  PubMed  CAS  Google Scholar 

  26. Jellinger K, Armstrong D, Zoghbi HY, Percy AK (1988) Neuropathology of Rett syndrome. Acta Neuropathol 76: 142–158

    Article  PubMed  CAS  Google Scholar 

  27. Johnson VP, Carpenter NJ, Kelts KA (1991) Pelizaeus-Merzbacher disease:clinical and DNA-linkage study of an extended family. Am J Med Genet 41:355–361

    Article  PubMed  CAS  Google Scholar 

  28. Kendall BE (1992) Disorders of Iysosomes, peroxisomes, and mitochondria. Am J Neuroradiol 13: 621–653

    PubMed  CAS  Google Scholar 

  29. Kennaway NG, Stankova L, Wirtz MK, Weleber RG (1989) Gyrate atrophy of the choroid and retina: characterization of mutantornithine aminotransferase and mechanism of response to vit amin B6. Am J Hum Genet 44: 344–352

    PubMed  CAS  Google Scholar 

  30. Lichter-Konecki U, Schlotter M, Trefz FK, Konecki DS (1989) Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany. Eur J Pediatr 149: 120–123

    Article  PubMed  CAS  Google Scholar 

  31. Moizer B, Stöckier S, Bernheimer H (1992) Peroxisomale neurologische Krankheiten und M. Refsum: Überlangkettige Fettsauren und Phytänsaure als diagnostische Marker. Wien Klin Wochenschr 104: 665–670

    Google Scholar 

  32. Mühlendahl KE von, Lehnert W, Mönch E (1990) MediumChain- Acyl-CoA-Dehydrogenase (MCAD)-Defekt. Akute zerebrale Episoden und nicht-ketotische Hypoglykämien bei Kindem. Dtsch Med Wochenschr 115: 1235–1238

    Article  Google Scholar 

  33. Neufeld EF (1991) Lysosomal storage diseases. Ann Rev Biochern 60: 257–280

    Article  CAS  Google Scholar 

  34. Nyhan WL (1988) MUltiple carboxylase deficiency. Int J Biochem 20:363–370

    Article  PubMed  CAS  Google Scholar 

  35. Peiffer J (1982) Angeborene StöffwechselstOrungen mit bevorzugter Lokalisation im Zentralnervensystem. Verh Dtsch Ges Pathol 66: 213–233

    PubMed  CAS  Google Scholar 

  36. Reichmann H, Gold R (1992) Metabolische Myopathien und Enzephalomyopathien. Dt Ärztebl Al 89: 1862–1866

    Google Scholar 

  37. Rizzo WB, Craft DA (1991) Sjögren-Larsson syndrome. J Clin Invest 88: 1643–1648

    Article  PubMed  CAS  Google Scholar 

  38. Royce PM, Steinmann B (1990) Markedly reduced activity of Iysyl oxidase in skin and aorta from a patient with Menkes’ disease showing unusually severe connective tissue manifestations. Pediatr Res 28: 137–141

    PubMed  CAS  Google Scholar 

  39. Schneider A, Montague P, Griffiths I, Fanarraga M, Kennedy P, Brophy P, Nave KA (1992) Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 358: 758–761

    Article  PubMed  CAS  Google Scholar 

  40. Servidei S, Bonilla E, Diedrich RG, Kornfeld M, Oates JD, Davidson M, Vora S, DiMauro S (1986) Fatal infantile form of muscle phosphofructokinase deficiency. Neurology 36: 1465–1470

    PubMed  CAS  Google Scholar 

  41. Tanaka K, Koyama A, Koike R, Ohno T, Atsumi T, Miyatake T(1985) Adrenomyeloneuropathy: report of a family and electron microscopical findings in peripheral nerve. J Neuro1 232: 73–78

    CAS  Google Scholar 

  42. Tanaka K, Yamano T, Shimada M, Ohno M, Onaga A, Saeki Y, Kodama S, Nishio H (1987) Electronmicroscopic study on biopsied rectal mucosa in adrenoleukodystrophy. Neurology 37: 1012–1015

    PubMed  CAS  Google Scholar 

  43. Taniike M, Fujimura H, Kogaki S, Tsukamoto H, Inui K, Midorikawa M, Nishimoto J, Okada S (1992) A case of pigmentary type of orthochromatic leUkodystrophy with early onset and globoid cells. Acta Neuropathol 83: 427–433

    Article  PubMed  CAS  Google Scholar 

  44. Walter S, Goebel HH (1988) Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases. Acta Neuropathol 76:489–495

    Article  PubMed  CAS  Google Scholar 

  45. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology. J Neurol Sci 88: 1–39

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1995 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Harzer, K., Breitbach, N. (1995). Genetische Stoffwechselerkrankungen mit neuropathologischer Bedeutung. In: Remmele, W., Peiffer, J., Schröder, J.M. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-85179-7_20

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-85179-7_20

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-85180-3

  • Online ISBN: 978-3-642-85179-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics