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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Adams JH, Duchen LW (eds) (1992) Greenfield’s neuropathology.5th ed. Arnold/Hodder & Stoughton, London
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
Cervós-Navarro J (1991) Pathologie des Nervensystems. Y.Degenerative und metabolische Erkrankungen. Redigiert von H. Berlet. Springer, Berlin Heidelberg New York Tokyo
Friede RL (1989) Developmental neuropathology, part 3: Metabolic diseases. Springer, Berlin Heidelberg New York Tokyo, pp 405–560
Hansen HG, Graucob E (1985) Hematologic cytology of storage diseases. Springer, Berlin Heidelberg New York Tokyo
Janisch W, Schreiber D, Warzog R (1990) Neuropathologie – Pathomorphologie und Pathogenese neurologischer Krankheiten. Fischer, Stuttgart New York
Peiffer J (1984) Angeborene Stoffwechselkrankheiten. Neuropathologischer Teil. In: Remmele W, (Hrsg) Pathologie. Springer, Berlin Heidelberg New York Tokyo, S 479–533
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) (1995) The metabolic basis of inherited disease. 7th ed. McGraw-Hill, New York (in press)
Tada K, Colombo JB, Desnick RJ (1987) Recent advances in inborn errors of metabolism. Enzyme 38: 7–327
Becker LE (1992) Lysosomes, peroxisomes and mitochondria: function and disorder. Am J Neuroradiol 13: 609–620
Blennow G, Jaeken J, Wiklund LM (1991) Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 5 [SuppI375]: 14--20
Breningstall GN (1990) Carnitine deficiency syndromes. Pediatr Neurol 6: 75–81
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
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
Carpenter S (1988) Morphological diagnosis and misdiagnosis in Batten-Kufs disease. Am J Med Genet [SuppI5]: 85–91
Ceuterick C, Martin JJ (1992) Electron microscopic features of skin in neurometabolic disorders. J Neurol Sci 112: 15–29
Dening TR, Berrios GE (1989) Wilson’s disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 46: 1126-1134
DeVivo DC, DiMauro S (1990) Mitochondrial defects of brain and muscle. Bioi Neonate 58 [Suppl1]: 54–69
Goebel HH (1992) Neuronal ceroid-lipofuscinoses: The current status. Brain Dev 14: 203–211
Hagberg B (1990) Polyneuropathies in paediatrics. Eur J Pediatr 149:296--305
Hale DE, Bennett MJ (1992) Fatty acid oxidation disorders: A new class of metabolic diseases. J Pediatr 121: 1–11
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
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
Hoffmann GF, Jakobs C, Rating D, Sweetman L, Trefz FK (1990) Prä- und postnatale Diagnostik der Organoazidopathien. Monatsschr Kinderheilkd 138: 381–388
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
Jellinger K, Armstrong D, Zoghbi HY, Percy AK (1988) Neuropathology of Rett syndrome. Acta Neuropathol 76: 142–158
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
Kendall BE (1992) Disorders of Iysosomes, peroxisomes, and mitochondria. Am J Neuroradiol 13: 621–653
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
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
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
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
Neufeld EF (1991) Lysosomal storage diseases. Ann Rev Biochern 60: 257–280
Nyhan WL (1988) MUltiple carboxylase deficiency. Int J Biochem 20:363–370
Peiffer J (1982) Angeborene StöffwechselstOrungen mit bevorzugter Lokalisation im Zentralnervensystem. Verh Dtsch Ges Pathol 66: 213–233
Reichmann H, Gold R (1992) Metabolische Myopathien und Enzephalomyopathien. Dt Ärztebl Al 89: 1862–1866
Rizzo WB, Craft DA (1991) Sjögren-Larsson syndrome. J Clin Invest 88: 1643–1648
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
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
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
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
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
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
Walter S, Goebel HH (1988) Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases. Acta Neuropathol 76:489–495
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
Editor information
Editors and Affiliations
Rights 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