Annals of Clinical Neurophysiology 2025;27(2):67-70

doi:10.14253/acn.25007

A Korean adult with genetically confirmed Alexander disease presenting with palatal tremor

Roudha ALMUQAHWI 1 ; Chong Hyun SUH ; Miseon KWON ; Hyunjin KIM

Affiliations

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Country

Republic of Korea

Language

English

Abstract

We report a genetically confirmed case of adult-onset Alexander disease (AOAD) presenting with progressive dysarthria and palatal tremor. Brain magnetic resonance imaging revealed medullary atrophy and olivary hyperintensities. A pathogenic variant of the glial fibrillary acidic protein gene (p.R416W) was identified. The palatal tremor indicated involvement of the Guillain-Mollaret triangle. This case underscores the diagnostic value of bulbar signs and neuroimaging in AOAD and highlights the importance of integrating clinical, radiological, and genetic findings for early definitive diagnosis.