Year: 2025
Type: article
Study design: Case Report
Abstract: INTRODUCTION: 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. CASE REPORT: 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. CONCLUSION: 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.
Authors: Jan Bernhard Hofmann, Matthias Gautschi, Anja Vossenkaul, Marisa Blanquet, Tatiana Bremova-Ertl
Institutions: University of Bern, University Hospital of Bern
Language: English
Subfield: Neurology
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $2,890
Funder: University of Bern
OpenAlex ID: W4410110767