Adulte hereditäre Leukenzephalopathien

 

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Zusammenfassung

Leukodystrophien sind hereditäre Erkrankungen des Myelins, die in der Regel progredient verlaufen. (1) und vorwiegend das Myelin des zentralen, häufig aber auch das des peripheren Nervensystems betreffen. (2) Unter Leukenzephalopathien werden alle Erkrankungen mit selektivem oder bevorzugtem Befall der weißen Gehirnsubstanz verstanden, also sowohl die primären Leukodystrophien als auch Erkrankungen mit sekundärem Myelinbefall. (3) Hereditäre Leukenzephalopathien galten lange Zeit als sehr selten, heute weiß man, dass sie in ihrer Gesamtheit ähnlich häufig wie Multiple Sklerose sind. (4) Die Ursachen dieser oft komplexen Erkrankungen zu entschlüsseln stellt eine diagnostische Herausforderung dar. Differenzialdiagnostisch muss an entzündliche, vaskuläre, toxische und neoplastische Schädigungen der weißen Substanz gedacht werden. Hereditäre Leukenzephalopathien sind insbesondere im Erwachsenenalter wenig bekannt und daher oft unterdiagnostiziert. Die Diagnosestellung ist aber für eine genetische Beratung, Abschätzung der Prognose und immer häufiger auch für den Beginn einer pharmakologischen Therapie unerlässlich.

Abstract

Leukodystrophies are hereditary disorders of myelin that generally have a progressive course. (1) They affect mainly the myelin of the central, but often also the peripheral nervous system. (2) Leukoencephalopathy refers to all diseases with selective or preferential involvement of the white matter, that is, both the primary leukodystrophies as well as disorders with secondary myelin involvement. (3) Hereditary leukoencephalopathies were long considered very rare, but today we know that over their whole range, they are as frequent as multiple sclerosis. (4) Uncovering the causes of these often complex diseases represents a diagnostic challenge. The differential diagnosis must take into consideration inflammatory, vascular, toxic and neoplastic lesions of the white matter. Hereditary leukoencephalopathies, especially in adulthood, are little known and therefore often under-diagnosed. However, the diagnosis is essential for genetic counseling, assessment of prognosis, and increasingly also for the start of a pharmacological therapy.

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