Der Nervenarzt

, Volume 81, Issue 4, pp 471–496

Entmarkungserkrankungen

CME Weiterbildung · Zertifizierte Fortbildung

Zusammenfassung

Leukenzephalopathische Erkrankungen des Erwachsenenalters sind ätiologisch heterogen und entsprechend differenzialdiagnostisch umfangreich. Die wichtigsten Ursachen sind entzündlich oder vaskulär bedingt, aber auch toxische und neoplastische Erkrankungen müssen mit bedacht werden.

Leukodystrophien sind demgegenüber genetisch determinierte, in der Regel chronisch progrediente Erkrankungen des Myelins mit variablem pathogenetischem Hintergrund, klinischem Verlauf und paraklinischem Befundmuster. Einige Erkrankungen sind behandelbar. Vor diesem Hintergrund und im Licht der besonderen Bedeutung einer humangenetischen Beratung betroffener Familien, erscheint die differenzialdiagnostische Aufklärung und Abgrenzung der Erkrankungen gegenüber erworbenen Leukenzephalopathien des Erwachsenenalters besonders bedeutsam. Es werden die klinischen und neuroradiologischen Befunde der wichtigsten Leukodystrophien des Erwachsenenalters sowie deren biochemische und molekulargenetische Diagnosemöglichkeiten dargestellt.

Schlüsselwörter

Leukenzephalopathie Multiple Sklerose Leukodystrophie Angeborene Stoffwechselstörung Hypomyelinisierung Demyelinisierung MRT 

Demyelinating disorders

Summary

Leukoencephalopathies in adults are frequent and exhibit highly variable aetiology, including multiple acquired causes such as inflammatory, vascular or toxic diseases and neoplasias.

In contrast leukodystrophies are genetically determined, chronic progressive myelin disorders with a variable pathogenetic background and a great diversity of clinical and paraclinical findings. Some diseases, namely those with an additional inborn error of metabolism, are treatable. Genetic counselling appears to be of major importance for patients and their families. In the light of numerous acquired adulthood leukoencephalopathies a clear delineation of late-onset genetic leukodystrophies is necessary. Clinical symptoms and MRI patterns of some of the major leukodystrophies are reported, including possibilities of biochemical and genetic testing.

Keywords

Leukoencephalopathy Multiple sclerosis Leukodystrophy Inborn errors of metabolism Hypomyelination Demyelination MRI 

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Klinik für NeurologieMarienkrankenhaus HamburgHamburgDeutschland
  2. 2.Klinik für Neurologie und neurologische IntensivmedizinFachkrankenhaus HubertusburgWermsdorfDeutschland

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