Bilateral vestibulopathy in Alexander disease type II- a case report

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Alexander disease (AxD) is a rare leukodystrophy linked to glial fibrillary acidic protein (GFAP) gene mutations.
• It causes astrocyte dysfunction, leading to myelinization issues and white matter damage.

Purpose of the Study:

• To report a novel phenotype of Alexander disease (AxD).
• To investigate the potential of 4-aminopyridine (4-AP) in managing vestibular dysfunction in AxD.

Main Methods:

• Case report of a 46-year-old male with typical AxD symptoms and radiological findings.
• Device-based vestibular examination, including video head-impulse test, to assess vestibulo-ocular reflex.
• Symptomatic treatment with 4-aminopyridine (4-AP) for cerebellar ataxia and bilateral vestibulopathy (BVP).

Main Results:

• The patient presented with myoclonus, nystagmus, cerebellar ataxia, and characteristic AxD radiological findings.
• Vestibular examination revealed a bilaterally decreased vestibulo-ocular reflex gain, indicating bilateral vestibulopathy (BVP), a novel finding in AxD.
• 4-aminopyridine (4-AP) treatment improved objective vestibular parameters but not subjective balance.

Conclusions:

• Bilateral vestibulopathy (BVP) is a newly described phenotype in Alexander disease (AxD).
• Early assessment of central vestibular symptoms in leukodystrophies like AxD is recommended.
• Investigating 4-aminopyridine (4-AP) for managing vestibular dysfunction in AxD warrants further consideration.