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Nervenheilkunde 2018; 37(03): 176-184
DOI: 10.1055/s-0038-1642092
Seltene Erkrankungen
Schattauer GmbH

Leukodystrophien und Neurotransmitterstörungen

Leukodystrophies and neurotransmitter disorders
B. Assmann
1   Zentrum für Kinder- und Jugendmedizin Heidelberg, Sektion für Neuropädiatrie & Stoffwechselmedizin, Heidelberg
,
K. Brockmann
2   Sozialpädiatrisches Zentrum, Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Göttingen
,
E. Bültmann
3   Institut für Diagnostische und Interventionelle Neuroradiologie, Medizinische Hochschule Hannover
,
I. Krägeloh-Mann
4   Abteilung III für Neuropädiatrie, Entwicklungsneurologie, Sozialpädiatrie, Universitätsklinik für Kinder- und Jugendmedizin Tübingen
,
T. Opladen
1   Zentrum für Kinder- und Jugendmedizin Heidelberg, Sektion für Neuropädiatrie & Stoffwechselmedizin, Heidelberg
› Institutsangaben
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Publikationsverlauf

eingegangen am: 20. Dezember 2017

angenommen am: 05. Januar 2018

Publikationsdatum:
02. April 2018 (online)

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Zusammenfassung

In diesem Artikel werden beispielhaft zwei Gruppen von angeborenen Erkrankungen dargestellt, die sich vom Säuglingsalter bis zum Erwachsenenalter hin manifestieren können. Die Leukodystrophien sind neurodegenerative Erkrankungen, für die zum Teil experimentelle Therapieansätze entwickelt werden. Für die Gruppe der angeborenen Störungen im Stoffwechsel der biogenen Amine steht bei einigen Defekten mit L-Dopa eine effiziente Therapie zur Verfügung, deren Einsatz so früh wie möglich und lebenslang erfolgen sollte, um irreversible Entwicklungsstörungen und Bewegungsstörungen zu vermeiden.

Summary

In this chapter of a special edition Nervenheilkunde we will describe two illustrative groups of congenital disorders which usually manifest in infancy or childhood but with a range far into adulthood. The first part will describe the group of leukodystrophies which usually follow a neurodegenerative course. Experimental therapies are developed for some of them. In the second part we will describe congenital disorders of neurotransmission concerning the biogenic amines. In most of these L-dopa is a highly efficient therapy which should be started as soon as possible and given life-long in order to avoid irreversible damage to mental and motor development.

Schlüsselwörter

Leukodystrophien - angeborene Neurotransmitterstörungen - L-Dopa-responsive Dystonie

Keywords

Leukodystrophies - congenital neurotransmitter disorders - L-Dopa responsive dystonia
 

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