Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

ABSTRACT: Background: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improveme

SUBMITTER: Kokaly N 

PROVIDER: S-EPMC12524457 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature