# Bilateral vestibulopathy in Alexander disease type II– a case report

## TL;DR

A patient with Alexander disease showed a new symptom of bilateral vestibulopathy, which responded partially to treatment.

## Contribution

This is the first report of bilateral vestibulopathy in Alexander disease type II.

## Key findings

- Bilateral vestibulopathy was identified in a patient with Alexander disease through vestibular testing.
- Treatment with 4-aminopyridine improved some vestibular parameters but not subjective balance.
- Central vestibular symptoms should be assessed early in leukodystrophies like Alexander disease.

## Abstract

Alexander disease (AxD) is rare leukodystrophy caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. Astrocyte dysfunction leads to myelinization disturbances and white matter damage, resulting in distinct neurological symptoms and neuroradiological findings.

Our patient, a 46-year old male, showed typical symptoms of AxD, including myoclonus of the soft palate, nystagmus, and cerebellar ataxia, as well as typical radiological findings found in AxD. The results of a device-based vestibular examination, including a video head-impulse test, showed a bilaterally decreased gain of vestibulo-ocular reflex of all semicircular canals suggestive of a bilateral vestibulopathy (BVP), a novel aspect of AxD. Symptomatic treatment of cerebellar ataxia and BVP with 4-aminopyridine (4-AP) led to an improvement of several device-examined vestibular parameters, but without subjective improvements in balance.

This case report describes BVP in a patient suffering from AxD, a novel phenotype of the disease. In leukodystrophies, such as AxD, central vestibular symptoms should be assessed early on to evaluate the potential use of 4-AP.

The online version contains supplementary material available at 10.1007/s00405-025-09416-7.