Zusammenfassung
Die infantile neuroaxonale Dystrophie (INAD) wurde erstmals 1952 von Seitelberger beschrieben. Es handelt sich um ein seltenes, autosomal-rezessiv erbliches Leiden, das heute als NBIA2A zu den Neurodegenerationen mit Eisenakkumulation im Gehirn gezählt wird. Das verantwortliche Gen wurde als PLA2G6 auf Chromosom 22q13.1 identifiziert. Pathologisch-anatomisch finden sich in der grauen Substanz, vor allem in den Hinterhörnern und Clarke-Säulen des Rückenmarks, in den Hirnstammkernen und in der Substantia nigra große eosinophile Spheroide, die axonalen Anschwellungen entsprechen. Sie stellen vergrößerte präsynaptische Endigungen dar. Elektronenmikroskopisch bestehen die Spheroide und eosinophilen Körperchen aus Aggregaten von glatten Membranen und tubulären Strukturen.
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Korinthenberg, R. (2015). Infantile neuroaxonale Dystrophie Seitelberger und Cockayne-Syndrom. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F. (eds) Pädiatrie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54671-6_259-1
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DOI: https://doi.org/10.1007/978-3-642-54671-6_259-1
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Infantile neuroaxonale Dystrophie Seitelberger und Cockayne-Syndrom- Published:
- 29 December 2018
DOI: https://doi.org/10.1007/978-3-642-54671-6_259-2
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Infantile neuroaxonale Dystrophie Seitelberger und Cockayne-Syndrom- Published:
- 16 September 2015
DOI: https://doi.org/10.1007/978-3-642-54671-6_259-1