Department of Neurology, Chonnam National University Hwasun Hospital, Hwasun; Department of Neurology, Chonnam National University Medical Schoola, Gwangju, Korea
Alexander disease (AxD) has been grouped as the leukodystrophy that affects the white matter of
central nervous system, and is caused by the mutation of glial fibrillary acidic protein gene.
Adult-onset AxD manifests pseudobulbar signs, palatal myoclonus, spastic paralysis, or ataxia by
the involvement of medulla or spinal cord. Adult-onset AxD can be initially misdiagnosed as multiple
sclerosis or tumor of brainstem and spinal cord. We report a case of genetically-proven adult-onset
AxD initially mimicking neuromyelitis optica.
Journal of Multiple Sclerosis 3(1):26-29, 2012
keyword : Alexander disease, Glial fibrillary acidic protein, Neuromyelitis optica