Eine neue Mutation als Ursache des Alexander-Syndroms beim Erwachsenen, aufgetreten als Tumor an der Halswirbelsäule

Zusammenfassung

Der vorliegende Fall berichtet über einen Patienten mit im Erwachsenenalter auftretendem Morbus Alexander. Die in diesem Fall festgestellte genetische Mutation war bisher unbekannt. Die Alexander-Krankheit ist eine sehr seltene Leukodystrophie, die durch Mutationen im Gen für das glial fibrillary acidic protein (GFAP) verursacht wird. Die Symptome sind variabel und hängen hauptsächlich von der Lokalisation ab. Primäres Ziel der Therapie ist es, die Symptome zu lindern. Derzeit gibt es keine kausale Therapie.

Abstract

The present report describes a patient with Alexander’s disease occurring in late adulthood. The genetic mutation reported in this case has not been known or reported before. The 47-year-old patient presented in our clinic with various neurological symptoms. A microsurgical partial resection was performed and showed the diagnosis stated above. Postoperatively, the symptoms continued to persist. The patient underwent interdisciplinary rehabilitation.

Schlüsselwörter

Waisman Datenbank - cervicaler Tumor - GFAP - Neurologie - unklare Myelonveränderung - neuartige Mutation

Keywords

GFAP - neurology - Waisman bank - new mutation - cervical tumor - Alexander disease

Publication History

Received: 09 November 2024

Accepted after revision: 09 December 2025

Article published online:
06 February 2026

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